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Background Metastatic RCC with sarcomatoid and/or rhabdoid (S/R) dedifferentiation is an aggressive disease associated with improved response to immune checkpoint therapy (ICT). The outcomes of patients treated with VEGFR-targeted therapies (TT) following ICT progression have not been investigated. Patients and Methods Retrospective review of 57 patients with sarcomatoid (S), rhabdoid (R), or sarcomatoid plus rhabdoid (S + R) dedifferentiation who received any TT after progression on ICT at an academic cancer center. Clinical endpoints of interest included time on TT, overall survival (OS) from initiation of TT, and objective response rate (ORR) by RECIST version 1.1. Multivariable models adjusted for epithelial histology, IMDC risk, prior VEGFR TT, and inclusion of cabozantinib in the post-ICT TT regimen. Results 29/57 patients had S dedifferentiation and 19 had R dedifferentiation. The most frequently used TT was cabozantinib (43.9%) followed by selective VEGFR TT (22.8%). The median time on TT was 6.4 months for all, 6.1 months for those with S dedifferentiation, 15.6 months for R dedifferentiation, and 6.1 months for S + R dedifferentiation. Median OS from initiation of TT was 24.9 months for the entire cohort, and the ORR was 20.0%. Patients with R dedifferentiation had significantly longer time on TT than those with S dedifferentiation (HR 0.44, 95% CI, 0.21-0.94). IMDC risk was associated with OS. Conclusions A subset of patients with S/R dedifferentiation derive clinical benefit from TT after they have progressive disease on ICT. Patients with R dedifferentiation appeared to derive more benefit from TT than those with S dedifferentiation. [ABSTRACT FROM AUTHOR]

Small cell undifferentiated (SCU) histology and alpha-fetoprotein (AFP) levels below 100 ng/mL have been reported as poor prognostic factors in hepatoblastoma (HB); subsequent studies reported SMARCB1 mutations in some SCU HBs confirming the diagnosis of rhabdoid tumor. The Children's Hepatic tumors International Collaboration (CHIC) database was queried for patients with HB who had AFP levels less than 100 ng/mL at diagnosis or were historically diagnosed as SCU HBs. Seventy-three of 1605 patients in the CHIC database were originally identified as SCU HB, HB with SCU component, or HB with low AFP levels. Upon retrospective review, they were re-classified as rhabdoid tumors (n = 11), HB with SCU component (n = 41), and HB with low AFP (n = 14). Seven were excluded for erroneously low AFP levels. Overall survival was 0% for patients with rhabdoid tumors, 76% for patients with HB with SCU component, and 64% for patients with HB with AFP less than 100 ng/mL. Patients with HB with SCU component or low AFP should be assessed for SMARCB1 mutations and, if confirmed, treated as rhabdoid tumors. When rhabdoid tumors are excluded, the presence of SCU component and low AFP at diagnosis were not associated with poor prognosis in patients diagnosed with HB.

Introduction: This investigation assessed whether the following factors were associated with radiographic local progression in bone metastases from renal cell carcinoma (RCC): (1) high-risk histologic features (2) lesional surgery (3) biologically effective dose (BED) of radiation therapy. Methods and materials: A single-institution database identified all patients who underwent surgery and radiation therapy for bone metastases from RCC to the appendicular skeleton and pelvis from 2006 to 2016. Thirty-six patients underwent radiotherapy for 80 metastases. While all patients had surgical stabilization, 17/36 also had lesional surgery to address the metastatic lesion. Progression of each individual lesion was determined using the application of RECIST criteria to imaging at last follow-up. Results: The rate of progressive disease was 8/25 (32%) in the high-risk group versus 5/55 (9%) in the standard-risk group (p ​= ​0.019). The rate of progression among high-risk metastases undergoing lesional surgery was 0/9 versus 8/16 (50%) having non-lesional surgery (p ​= ​0.0218). The rate of progression among standard-risk metastases undergoing lesional surgery was 1/16 (6%) versus 4/39 (10%) with non-lesional surgery (p ​= ​1.00). High-risk histologic features (OR: 10.592, 95% confidence interval: 1.347–83.271, p ​= ​0.025) and as well as a reduction in risk with every additional Gray of BED (OR: 0.902, 95% confidence interval: 0.827–0.984, p ​= ​0.021) were found to predict progressive disease. Conclusions: Bone metastases from renal cell carcinoma with high-risk histologic features are associated with less favorable response to radiotherapy than those with standard-risk histology. Delivery of a higher BED was associated with lower odds of progression.

Extrarenal malignant rhabdoid tumors are rare, aggressive lesions that primarily affect infants and children with characteristic SMARCB1/INI1 mutations. While rhabdoid tumors are most commonly found in the kidneys and central nervous system, they have been reported in virtually every soft tissue in the body. A 20-year-old previously healthy male presented with a 4-month history of left upper extremity weakness and pain and a 1-week history of lower extremity weakness. MRI showed a combined intradural and extradural mass arising from the C8 root and involving the lower trunk of the brachial plexus. CT guided biopsy followed with onsite cytologic analysis initially concerning for plasma cell etiology. Full body PET/CT showed no evidence of metastases. The tumor was surgically resected and debulked. Extensive immunohistochemical testing on the resected specimen revealed a diagnosis of extrarenal malignant rhabdoid tumor. Recurrence invading paraspinous muscles, left lateral paravertebral space, left apical lung, and brachial plexus was noted within 2 months. Radiation and chemotherapy were initiated. Here we present imaging findings, image-guided biopsy, surgical management, and pathologic diagnosis of a rare case of extrarenal, extracranial malignant rhabdoid tumor of the brachial plexus and surrounding paraspinous muscles in a young adult male. [ABSTRACT FROM AUTHOR]

We present a rare case of rhabdoid squamous cell carcinoma (RSCC) on the scalp of a non-immunosuppressed male patient in his late 60s. This aggressive variant of squamous cell carcinoma (SCC) is characterized by tumor cells with eccentrically located nuclei and abundant eosinophilic cytoplasm, as observed on histopathological examination. While rhabdoid morphology has been reported in various anatomical sites, its occurrence in primary cutaneous tumors is exceptionally uncommon, with fewer than 10 cases documented to date. Immunohistochemically, the neoplasm demonstrated positivity for p40, cytokeratin 5/6 (CK5/6), and vimentin, while retaining integrase interactor 1 (INI1) expression and showing negativity for muscle differentiation markers. Loss of p53 staining suggested its role in the progression to a more aggressive phenotype. The DecisionDx-SCC assay (Castle Biosciences, Friendswood, TX, US) classified the tumor as Class 2B, indicating the highest biological risk for metastasis and poor outcomes. Despite the limited number of reported cutaneous RSCC cases, this variant appears to exhibit high aggressiveness, mirroring other visceral tumors with rhabdoid features. We discuss potential molecular events underlying this transformation. This case highlights the importance of recognizing this rare variant and its implications for patient management and prognosis., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: Dr. Gomez has served as a consultant and speaker for Castle Biosciences. Castle Biosciences laboratory services were used for tumor prognostication in this study. However, Castle Biosciences had no role in the study design, data interpretation, or manuscript preparation. No financial or other incentives were received from Castle Biosciences in connection with this study., (Copyright © 2024, Bobkova et al.)

Rhabdoid meningioma is a rare type of meningeal neoplasm in humans. This study reports the clinical, pathological, and ultrastructural features of 4 cases of canine meningioma with rhabdoid features. The cases were female and 8 to 12 years of age. Biopsies from complete surgical resections were examined for all cases. The whole brain with tumor recurrence was collected at necropsy in 2 dogs. Histologically, the tumors consisted of discohesive sheets of oval-polygonal cells with abundant eosinophilic cytoplasm and occasional paranuclear hyaline-like inclusions. Cells were intensely immunopositive for vimentin, negative for melan A and S100 protein in all cases, and showed variable immunolabeling for cytokeratin in 2 cases. Focal glial fibrillary acidic protein (GFAP)-immunopositive cells were present in 1 case. Ultrastructurally, the rhabdoid cells in case 1 contained prominent cytoplasmic whorls of intermediate filaments, recapitulating the ultrastructural features of rhabdoid meningioma in humans. In cases 2 and 3, the meningioma cells contained interdigitating cell processes folded in a maze-like fashion resembling rhabdoid-like meningioma in humans. In case 4, the voluminous cytoplasm contained many round-to-flattened mitochondria admixed with rough endoplasmic reticulum, indicating a predominant oncocytic differentiation and not the rhabdoid differentiation suggested by light microscopy. Thus, rhabdoid morphology occurs in different types of meningiomas, and ultrastructural findings are essential for a correct diagnosis. [ABSTRACT FROM AUTHOR]

Abstract Background Undifferentiated carcinoma of the biliary tract are highly aggressive malignancies. In other organs, a subgroup of undifferentiated carcinoma related to SWI/SNF complex–deficiency have been described. Case presentation A 30-year-old woman presented with rising inflammatory markers (C-reactive protein (CRP)). Ultrasound examination revealed a large tumor of the liver. A computed tomography scan was performed and was primarily interpreted as a tumor-forming liver abscess, possibly caused by gallbladder perforation. Subsequent liver segment resection was performed. Microscopic examination showed an undifferentiated carcinoma with rhabdoid morphology and prominent inflammatory infiltrate in the gallbladder base. With SWI/SNF immunohistochemistry, intact expression of SMARCB1, SMARCA4, ARID1A, but loss of SMARCA2 and PBRM1 was detected. Next-generation-sequencing detected KRAS, PBRM1 and ARID1B mutations, a deleterious splice-site mutation in the POLE-gene and a mutation in the TP53-gene. Conclusions We were able to demonstrate loss of SMARCA2 expression and mutations characteristic of an SWI/SNF-deficient carcinoma in a tumor derived from the gallbladder. This is the first reported case of an undifferentiated carcinoma with rhabdoid features in the gallbladder carrying a POLE mutation and SWI/SNF-deficiency of PBRM1 and SMARCA2.

Abstract Background Renal Cell Carcinoma (RCC) metastasizes in approximately 20–30% cases. The most common sites for metastases are the lungs, bones, liver, and brain. Metastases of RCC in the gastrointestinal tract (GIT) are very rare. Metastatic RCC has a poor prognosis. We herein present a case series of three patients with metastatic disease in the colon, duodenum, and pancreas following complete resection of RCC. Methods Hematoxylin and Eosin and immunohistochemical slides of 3 cases of RCC metastatic to GIT were reviewed. These cases were diagnosed between 2002 and 2019 at French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan, and Aga Khan University Hospital (AKUH), Karachi, Pakistan. We also present a detailed review of published literature. Results We reviewed cases of three patients, two females and one male, with a mean age of 57.3 years (range 40–67 years) who underwent nephrectomy for RCC. They developed metastases in the colon, pancreas, and duodenum, respectively 12–168 months (median time 156 months) following primary tumor resection. The patient with metastatic RCC in colon presented with abdominal pain and constipation. An ulcerated mass was found on colonoscopy 30 cm from the anal verge. Diagnosis of RCC with rhabdoid features was confirmed in both primary and metastatic tumors. The second patient developed a metastatic nodule in the head of pancreatic while the third patient developed metastatic nodules in the duodenum and pancreas which were detected by Computed Tomography (CT) scanning. Histopathological examination confirmed the presence of clear cell RCC in the metastatic nodules in both cases. Conclusion Metastatic RCC should be considered in the differential diagnosis of mass in the gastrointestinal (including pancreaticobiliary) tract especially in presence of a past history of RCC. These patients should be screened thoroughly by physical examination and appropriate imaging studies.

Abstract Background Sarcomatoid differentiation in renal cell carcinoma (RCC) with vena caval tumour thrombus has been shown to be associated with aggressive behaviours and poor prognosis; however, evidence of the impact of rhabdoid differentiation on prognosis is lacking. This study evaluated the impact of sarcomatoid differentiation and rhabdoid differentiation on oncological outcomes for RCC with vena caval tumour thrombus treated surgically. Methods We retrospectively analysed patients treated surgically for RCC with vena caval tumour thrombus at our institute from Jan 2015 to Nov 2018. Prognostic variables were evaluated for associations with progression-free survival (PFS) and cancer-specific survival (CSS) by Kaplan–Meier survival analysis and log-rank test. Univariate and multivariate analyses were performed to determine independent prognostic variables. Results We identified 125 patients with RCC and vena caval tumour thrombus, including 17 (13.6%) with sarcomatoid differentiation alone, 8 (6.4%) with rhabdoid differentiation alone and 3 (2.4%) with both sarcomatoid and rhabdoid differentiation. Compared to pure RCC, patients with sarcomatoid differentiation but not rhabdoid differentiation have worse PFS (p = 0.018 and p = 0.095, respectively). The univariate and multivariate analyses both showed sarcomatoid differentiation as a significant predictor of PFS. Compared to pure RCC, patients with sarcomatoid differentiation (p = 0.002) and rhabdoid differentiation (p = 0.001) both had significantly worse CSS. The univariate analysis showed sarcomatoid differentiation, rhabdoid differentiation, metastasis and blood transfusion as significant predictors of CSS (All, p

Dedifferentiation in renal cell carcinoma (RCC), either sarcomatoid or rhabdoid, is an infrequent event that may occur heterogeneously in the setting of any RCC histology and is associated with poor outcomes. Sarcomatoid dedifferentiation is associated with inferior survival with angiogenesis targeted therapy and infrequent responses to cytotoxic chemotherapy. However, immune checkpoint therapy has significantly improved outcomes for patients with sarcomatoid dedifferentiation. Biologically, sarcomatoid dedifferentiation has increased programmed death-ligand 1 (PD-L1) expression and an inflamed tumor microenvironment, in addition to other distinct molecular alterations. Less is known about rhabdoid dedifferentiation from either a clinical, biological, or therapeutic perspective. In this focused review, we will discuss the prognostic implications, outcomes with systemic therapy, and underlying biology in RCC with either sarcomatoid or rhabdoid dedifferentiation present.

Integrase interactor 1 (INI1)-deficient carcinomas, recently described in several sites including the head and neck, are associated with basaloid or rhabdoid histology and aggressive behavior irrespective of origin. INI1-deficient thyroid carcinoma is extremely rare. We present here the phenotype and genotype of an INI1-deficient thyroid carcinoma and report on the INI1 protein expression in various thyroid lesions. Case report with clinicopathologic and molecular characterization and INI1 assessment in 184 thyroid lesions. A 67-year-old woman presented with globus sensation due to a large thyroid mass with extrathyroid extension, focal necrosis and cervical and mediastinal nodal involvement. Histologically, tumor cells had a solid, alveolar and pseudopapillary architecture in a myxoid stroma, exhibited monomorphic epithelioid and focal rhabdoid/plasmacytoid morphology and lacked glandular, squamous or follicular cell differentiation. Tumor cells were positive for AE1/AE3 and CK18 but negative for TTF1, thyroglobulin and PAX8. INI1 nuclear expression was absent. A frameshift SMARCB1/INI1 mutation was detected. In addition, TET2 and Notch1 mutations were present but alterations of BRAF, RET, PAX8/PPAR8 or RAS were not identified. Patient death occurred 14 months after diagnosis from post-therapeutic complications. None of the 184 benign and malignant thyroid lesions tested, including 12 poorly and undifferentiated thyroid carcinomas, were INI1-deficient. INI1-deficient thyroid carcinoma shares the phenotype, genotype and biology of other INI1-deficient tumors. Epithelioid and plasmacytoid/rhabdoid changes are most frequent whereas basaloid morphology is not reported, in contrast with sinonasal tumors. Poorly differentiated and undifferentiated thyroid tumors with epithelioid or rhabdoid morphology should be tested for INI1 protein expression to better characterize these aggressive neoplasms and identify patients eligible for targeted therapy. [ABSTRACT FROM AUTHOR]

Background: Undifferentiated carcinoma of the biliary tract are highly aggressive malignancies. In other organs, a subgroup of undifferentiated carcinoma related to SWI/SNF complex–deficiency have been described. Case presentation: A 30-year-old woman presented with rising inflammatory markers (C-reactive protein (CRP)). Ultrasound examination revealed a large tumor of the liver. A computed tomography scan was performed and was primarily interpreted as a tumor-forming liver abscess, possibly caused by gallbladder perforation. Subsequent liver segment resection was performed. Microscopic examination showed an undifferentiated carcinoma with rhabdoid morphology and prominent inflammatory infiltrate in the gallbladder base. With SWI/SNF immunohistochemistry, intact expression of SMARCB1, SMARCA4, ARID1A, but loss of SMARCA2 and PBRM1 was detected. Next-generation-sequencing detected KRAS, PBRM1 and ARID1B mutations, a deleterious splice-site mutation in the POLE-gene and a mutation in the TP53-gene. Conclusions: We were able to demonstrate loss of SMARCA2 expression and mutations characteristic of an SWI/SNF-deficient carcinoma in a tumor derived from the gallbladder. This is the first reported case of an undifferentiated carcinoma with rhabdoid features in the gallbladder carrying a POLE mutation and SWI/SNF-deficiency of PBRM1 and SMARCA2. [ABSTRACT FROM AUTHOR]

Background: Renal Cell Carcinoma (RCC) metastasizes in approximately 20-30% cases. The most common sites for metastases are the lungs, bones, liver, and brain. Metastases of RCC in the gastrointestinal tract (GIT) are very rare. Metastatic RCC has a poor prognosis. We herein present a case series of three patients with metastatic disease in the colon, duodenum, and pancreas following complete resection of RCC.Methods: Hematoxylin and Eosin and immunohistochemical slides of 3 cases of RCC metastatic to GIT were reviewed. These cases were diagnosed between 2002 and 2019 at French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan, and Aga Khan University Hospital (AKUH), Karachi, Pakistan. We also present a detailed review of published literature.Results: We reviewed cases of three patients, two females and one male, with a mean age of 57.3 years (range 40-67 years) who underwent nephrectomy for RCC. They developed metastases in the colon, pancreas, and duodenum, respectively 12-168 months (median time 156 months) following primary tumor resection. The patient with metastatic RCC in colon presented with abdominal pain and constipation. An ulcerated mass was found on colonoscopy 30 cm from the anal verge. Diagnosis of RCC with rhabdoid features was confirmed in both primary and metastatic tumors. The second patient developed a metastatic nodule in the head of pancreatic while the third patient developed metastatic nodules in the duodenum and pancreas which were detected by Computed Tomography (CT) scanning. Histopathological examination confirmed the presence of clear cell RCC in the metastatic nodules in both cases.Conclusion: Metastatic RCC should be considered in the differential diagnosis of mass in the gastrointestinal (including pancreaticobiliary) tract especially in presence of a past history of RCC. These patients should be screened thoroughly by physical examination and appropriate imaging studies. [ABSTRACT FROM AUTHOR]

Malignant rhabdoid tumor (MRT) is one of very aggressive neoplasm commonly seen in kidney. An 8 months old boy presented with fever, abdominal distension, multiple vomiting and reduced oral intake. CT Angiography revealed a hyper dense mass involving multiple segments of the liver and associated rupture. He had near normal Sr. AFP (Alpha-Feto protein) levels. An emergent laparotomy revealed a tumour arising from the left lobe of liver which had ruptured already and the surface was bleeding. There was a large haemoperitoneum. A left hemi-hepatectomy was done. Post operative course was turbulent. He never recovered enough to be given chemotherapy. Prognosis was explained, the parents took the child home against medical advice. He died at home a few weeks later. Histopathological examination (HPE) revealed to be malignant rhabdoid tumour of the liver.

The SMARCB1/INI1 gene was first discovered in the mid-1990s, and since then it has been revealed that loss of function mutations in this gene result in aggressive rhabdoid tumors. Recently, the term “rhabdoid tumor” has become synonymous with decreased SMARCB1/INI1 expression. When genetic aberrations in the SMARCB1/INI1 gene occur, the result can cause complete loss of expression, decreased expression, and mosaic expression. Although SMARCB1/INI1-deficient tumors are predominantly sarcomas, this is a diverse group of tumors with mixed phenotypes, which can often make the diagnosis challenging. Prognosis for these aggressive tumors is often poor. Moreover, refractory and relapsing progressive disease is common. As a result, accurate and timely diagnosis is imperative. Despite the SMARCB1/INI1 gene itself and its implications in tumorigenesis being discovered over two decades ago, there is a paucity of rhabdoid tumor cases reported in the literature that detail SMARCB1/INI1 expression. Much work remains if we hope to provide additional therapeutic strategies for patients with aggressive SMARCB1/INI1-deficient tumors.

The SMARCB1/INI1 gene was first discovered in the mid-1990’s, and since then it has been revealed that loss of function mutations in this gene result in aggressive rhabdoid tumors. Recently, the term “rhabdoid tumor” has become synonymous with decreased SMARCB1/INI1 expression. When genetic aberrations in the SMARCB1/INI1 gene occur, the result can cause reduced, complete loss, and mosaic expression. Although SMARCB1/INI1-deficient tumors are predominantly sarcomas, this is a diverse group of tumors with mixed phenotypes, which can often make the diagnosis challenging. Prognosis for these aggressive tumors is often poor. Moreover, refractory and relapsing progressive disease is common. As a result, accurate and timely diagnosis is imperative. Despite the SMARCB1/INI1 gene itself and its implications in tumorigenesis being discovered over two decades ago, there is a paucity of rhabdoid tumor cases reported in the literature that detail SMARCB1/INI1 expression. Much work remains if we hope to provide additional therapeutic strategies for patients with aggressive SMARCB1/INI1-deficient tumors.

Abstract The case of a heavy ex‐smoking man in his early 70s who presented with haemoptysis and died following rapid progression is presented. The tumour excised by surgery was mostly composed of monotonous large rhabdoid cells showing prominent nucleoli and eosinophilic cytoplasm. On immunohistochemistry with SMARCA4 (BRG‐1), the tumour cells showed significant loss of expression. The tumour was diagnosed as a SMARCA4‐deficient thoracic sarcoma. This is a disease that progresses rapidly and has a poor prognosis. However, the search for specific treatments using synthetic lethality is underway. Clinical and pathological characteristics can be identified with examination of more cases, and when the tumour is suspected, it is necessary to actively perform immunohistochemical examination.

Renal cell carcinoma with rhabdoid features is a rare histopathologic variant recently documented. It is a very aggressive tumor and associated with a higher mortality rate and poor prognosis. A 22 years old female patient presents with a rare case of clear cell renal cell carcinoma with rhabdoid features successfully managed with right radical nephrectomy and paracaval lymph node excision. The patient was alive, healthy and three years of flow up for the patient was free from metastasis. Despite rhabdoid features are lethal tumors and are associated with higher grades, radical nephrectomy with lymph node dissection increases survival rate.

The case of a heavy ex‐smoking man in his early 70s who presented with haemoptysis and died following rapid progression is presented. The tumour excised by surgery was mostly composed of monotonous large rhabdoid cells showing prominent nucleoli and eosinophilic cytoplasm. On immunohistochemistry with SMARCA4 (BRG‐1), the tumour cells showed significant loss of expression. The tumour was diagnosed as a SMARCA4‐deficient thoracic sarcoma. This is a disease that progresses rapidly and has a poor prognosis. However, the search for specific treatments using synthetic lethality is underway. Clinical and pathological characteristics can be identified with examination of more cases, and when the tumour is suspected, it is necessary to actively perform immunohistochemical examination.We present the case of a heavy ex‐smoking man in his early 70s who presented with haemoptysis and died following rapid progression. The excised tumour was diagnosed as a SMARCA4‐deficient thoracic sarcoma. This is a disease that progresses rapidly and has a poor prognosis. [ABSTRACT FROM AUTHOR]

Background: Sarcomatoid differentiation in renal cell carcinoma (RCC) with vena caval tumour thrombus has been shown to be associated with aggressive behaviours and poor prognosis; however, evidence of the impact of rhabdoid differentiation on prognosis is lacking. This study evaluated the impact of sarcomatoid differentiation and rhabdoid differentiation on oncological outcomes for RCC with vena caval tumour thrombus treated surgically.Methods: We retrospectively analysed patients treated surgically for RCC with vena caval tumour thrombus at our institute from Jan 2015 to Nov 2018. Prognostic variables were evaluated for associations with progression-free survival (PFS) and cancer-specific survival (CSS) by Kaplan-Meier survival analysis and log-rank test. Univariate and multivariate analyses were performed to determine independent prognostic variables.Results: We identified 125 patients with RCC and vena caval tumour thrombus, including 17 (13.6%) with sarcomatoid differentiation alone, 8 (6.4%) with rhabdoid differentiation alone and 3 (2.4%) with both sarcomatoid and rhabdoid differentiation. Compared to pure RCC, patients with sarcomatoid differentiation but not rhabdoid differentiation have worse PFS (p = 0.018 and p = 0.095, respectively). The univariate and multivariate analyses both showed sarcomatoid differentiation as a significant predictor of PFS. Compared to pure RCC, patients with sarcomatoid differentiation (p = 0.002) and rhabdoid differentiation (p = 0.001) both had significantly worse CSS. The univariate analysis showed sarcomatoid differentiation, rhabdoid differentiation, metastasis and blood transfusion as significant predictors of CSS (All, p < 0.05). In the multivariate analysis, sarcomatoid differentiation (HR 3.90, p = 0.008), rhabdoid differentiation (HR 3.01, p = 0.042), metastasis (HR 3.87, p = 0.004) and blood transfusion (HR 1.34, p = 0.041) all remained independent predictors of CSS.Conclusions: Sarcomatoid differentiation and rhabdoid differentiation are both independent predictors of poor prognosis in RCC with vena caval tumour thrombus treated surgically. [ABSTRACT FROM AUTHOR]

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare CNS cancer that typically occurs in children younger than 3 years of age. Histologically, AT/RTs are embryonal tumors that contain a rhabdoid component as well as areas with primitive neuroectodermal, mesenchymal, and epithelial features. Compared to other CNS tumors of childhood, AT/RTs are characterized by their rapid growth, short symptomatic prodrome, and large size upon presentation, often leading to brain compression and intracranial hypertension requiring urgent intervention. For decades, the mainstay of care has been a combination of maximal safe surgical resection followed by adjuvant chemotherapy and radiotherapy. Despite advances in each of these modalities, the relative paucity of data on these tumors, their inherently aggressive course, and a lack of molecular data have limited advances in treatment over the past 3 decades. Recent large-scale, multicenter interdisciplinary studies, however, have significantly advanced our understanding of the molecular pathogenesis of these tumors. Multiple clinical trials testing molecularly targeted therapies are underway, offering hope for patients with AT/RT and their families. [ABSTRACT FROM AUTHOR]

Rhabdoid tumor commonly occurs in the kidney and has an aggressive clinical course with high mortality. Extrarenal rhabdoid tumours can involve a number of organs, but poorly differentiated follicular carcinoma with rhabdoid phenotype is an extremely rare clinical entity. The 18F-FDG PET feature of this thyroid malignancy is not available in the literature to the best of our knowledge. But, this feature has significant clinical relevance in management of such patients. We present such a case. [ABSTRACT FROM AUTHOR]

Neuroblastoma (NB) is the most common extracranial solid tumor in pediatrics, with rare occurrences of primary and metastatic tumors in the central nervous system (CNS). We previously reported the overexpression of the polo-like kinase 4 (PLK4) in embryonal brain tumors. PLK4 has also been found to be overexpressed in a variety of peripheral adult tumors and recently in peripheral NB. Here, we investigated PLK4 expression in NBs of the CNS (CNS-NB) and validated our findings by performing a multi-platform transcriptomic meta-analysis using publicly available data. We evaluated the PLK4 expression by quantitative real-time PCR (qRT-PCR) on the CNS-NB samples and compared the relative expression levels among other embryonal and non-embryonal brain tumors. The relative PLK4 expression levels of the NB samples were found to be significantly higher than the non-embryonal brain tumors (p-value < 0.0001 in both our samples and in public databases). Here, we expand upon our previous work that detected PLK4 overexpression in pediatric embryonal tumors to include CNS-NB. As we previously reported, inhibiting PLK4 in embryonal tumors led to decreased tumor cell proliferation, survival, invasion and migration in vitro and tumor growth in vivo, and therefore PLK4 may be a potential new therapeutic approach to CNS-NB. [ABSTRACT FROM AUTHOR]

Glioblastoma multiforme (GBM) is a high-grade glioma that may develop from several other central nervous system tumors after radiation therapy. We herein report a case of GBM occurring 8 years after radiation therapy for medulloblastoma. The secondary tumor was histologically distinctly different from the primary tumor. Previously reported cases indicate that GBM induced by radiation therapy is associated with a highly aggressive clinical course with a high risk of early recurrence and poor prognosis. In addition, histological examination revealed that the tumor cells exhibited characteristics of both GBM and rhabdoid tumor cells. The diverse pathological characteristics of GBM may reflect the potential effects of radiation therapy on the tumor. [ABSTRACT FROM AUTHOR]

Plasmacytoid and rhabdoid variants of urothelial carcinomas (UCs) of the urinary bladder have been described in humans with plasma cell–like or rhabdoid cellular appearance and aggressive clinical outcome. Canine UC of the bladder is generally classified as papillary/nonpapillary and infiltrating/noninfiltrating with limited information regarding other histological patterns. We report 3 cases of UC of the urinary bladder showing a unique discohesive cellular morphology with malignant behavior resembling the human plasmacytoid and rhabdoid variants of UC, which may raise some difficulties in diagnosis. Epithelial-mesenchymal transition and reduced E-cadherin expression were revealed by immunohistochemistry in 2 cases, possibly explaining the discohesive and invasive behavior of the tumor cells. The findings broaden the morphological spectrum as well as the distinct clinical features of canine UC of the urinary bladder. [ABSTRACT FROM AUTHOR]

Rhabdoid meningioma is an infrequent variant of meningioma, introduced for the first time in the 2000 World Health Organization’s classification of tumors of the nervous system. Owing to its aggressive clinical course and high proliferative index, it has been classified as a grade III neoplasm. We describe a fifty-year-old male with headache, weakness of limbs, and altered sensorium. CT showed hetero-dense enhancing mass lesions in both right and left parietal areas raising suspicion of high grade glioma. Histopathologic and immunohistochemical examination revealed a tumor with features of rhabdoid meningioma. A review of literature did not reveal any bilateral occurrence of this tumor.

Intra-abdominal metastasis (IAM) of central nervous system (CNS) tumors via ventriculoperitoneal shunt (VPS) is rare but has been previously reported (e.g., germinomas and medulloblastomas). However, there has been no previous report in the literature involving meningiomas. A case of primary rhabdoid meningioma with widespread intra-abdominal carcinomatosis after placement of a VPS in a 36-year-old man is described. The patient underwent preoperative angioembolization of the tumor, craniotomy, and surgical excision, followed by postoperative gamma knife radiosurgery. Five months later, he underwent a decompressive craniectomy and surgical excision for tumor recurrence causing raised intracranial pressure and communicating hydrocephalus, necessitating placement of a VPS. One month after placement of the VPS, the patient developed abdominal distension and confusion. He was treated for a VPS infection, and the shunt was explanted. He continued to deteriorate with high output from the peritoneal drain placed at the time of shunt explantation. An exploratory laparotomy revealed multiple diffuse peritoneal and omental nodules which had the same histopathological and immunohistochemical morphology as the primary tumor. We reviewed the current literature on IAM of primary CNS tumors via VPS, which revealed that patients belonging in the pediatric age group, of the male gender, and with a primary intracranial germinoma or medulloblastoma have a higher incidence of IAM. Majority of IAM occurred within 2 years of VPS placement, and patients most commonly present with abdominal distension and ascites. Treatment after diagnosis is varied and the prognosis is poor, with more than half of the patients dying within a year. It is vital for clinicians to maintain a high index of suspicion for similar patients, as early intervention could potentially improve patient outcomes and patient expectations managed more effectively. [ABSTRACT FROM AUTHOR]

Objective: Small cell carcinoma of ovary, hypercalcemic type is a rare malignancy with a dismal prognosis. The diagnosis is often confused with many other tumors.Case Report: We describe a rare case of ovarian small cell carcinoma of hypercalcemic type in an adolescent. She presented with abdominal pain, awareness of mass and vomiting. She underwent exploratory laparotomy and right ovarian excision. The detailed histopathological examination including immunohistochemistry was suggestive of ovarian small cell carcinoma of hypercalcemic type. She had progressive disease on chemotherapy and ultimately died within 2 years of diagnosis. Due to rarity of this neoplasm and its aggressive nature, the optimal treatment regimen has not been established.Conclusion: We report this case because of its rare occurrence leading to clinical and diagnostic challenges and need to explore effective treatment options to improve survival in these patients. [ABSTRACT FROM AUTHOR]

Neuroblastoma (NB) is the most common extracranial solid tumor in pediatrics, with rare occurrences of primary and metastatic tumors in the central nervous system (CNS). We previously reported the overexpression of the polo-like kinase 4 (PLK4) in embryonal brain tumors. PLK4 has also been found to be overexpressed in a variety of peripheral adult tumors and recently in peripheral NB. Here, we investigated PLK4 expression in NBs of the CNS (CNS-NB) and validated our findings by performing a multi-platform transcriptomic meta-analysis using publicly available data. We evaluated the PLK4 expression by quantitative real-time PCR (qRT-PCR) on the CNS-NB samples and compared the relative expression levels among other embryonal and non-embryonal brain tumors. The relative PLK4 expression levels of the NB samples were found to be significantly higher than the non-embryonal brain tumors (p-value < 0.0001 in both our samples and in public databases). Here, we expand upon our previous work that detected PLK4 overexpression in pediatric embryonal tumors to include CNS-NB. As we previously reported, inhibiting PLK4 in embryonal tumors led to decreased tumor cell proliferation, survival, invasion and migration in vitro and tumor growth in vivo, and therefore PLK4 may be a potential new therapeutic approach to CNS-NB.

Primary central nervous system atypical teratoid/rhabdoid tumors mostly occur during early childhood and are almost invariably fatal. These tumors show similar histological and radiological features to primitive neuroectodermal tumor, meduloblastoma and choroid plexus carcinoma, but present different biological behaviors. We present the case of an 18 year-old man who presented headache, vomiting and ataxia. CT-scan and MRI revealed a posterior fossa tumor. A gross total resection was performed. An intraoperative study showed papillary-like tumors with large cells and mitotic features. Histological examination showed two different main growth patterns: solid sheets of undifferentiated polygonal cells with papillary features and rhabdoid cells. Immunohistochemically, these rhabdoid cells were positive for vimentin, epithelial membrane antigen, smooth-muscle actin, cytokeratin, S-100 protein, and glial fibrillary acidic protein. Electro-microscopically, the typical rhabdoid cells contained whorled bundles of intermediate filaments in their cytoplasm. A rhabdoid tumor is a clinicalpathological entity and emphasizes the necessity to distinguish this unique tumor from other pediatric central nervous system neoplasms. Cytopathological features, immunohistochemistry and electro-microscopy differential diagnoses are discussed.Los tumores de tipo rabdoide primarios en cualquier sitio son raros y en el sistema nervioso central son extremadamente raros y ocurren principalmente en niños, el tumor teratoide/rabdoide es el tumor más frecuente dentro de este grupo y de evolución clínica fatal. El tumor neuroectodermico primitivo, medulobalstoma y al carcinoma de plexos coroides son tumores generalmente muestran aspectos clínicos radiológicos e histológicos similares, con evolución diferente. Presentamos el caso de un hombre joven de 18 años que inició con cefalea vómitos y ataxia. La imagen de TC muestra tumor en fosa posterior. Se realizó resección total del tumor. En el estudio transoperatorio se observó neoplasia maligna de células grandes con mitosis y que formaba estructuras papilares. Histológicamente se observaron dos patrones diferentes, uno formado por nidos sólidos de células poligonales indiferenciadas con formación de estructuras papilares y el otro con abundantes células grandes de aspecto rabdoide. Por inmunohistoquímica las células de aspecto rabdoide fueron positivas para vimentina, antigeno de membrana epitelial, actina de músculo liso, citoqueratina, y proteína S-100, La PGAF fue focalmente positiva. Se realizó microscopía electrónica de las células rabdoides que mostraban nidos irregulares de filamentos intermedios intracitoplasmicos y lamina basal. El tumor rabdoide cerebral es clínica como histológicamente una rara entidad en la población pediátrica. Se discute el aspecto citopatológicas de inmunohistoquímica y de microscopia electrónica y sus diagnósticos diferenciales.

Rhabdoid meningioma is an uncommon anaplastic variant of meningioma. We describe the clinicoradiological and histomorphological features of two such cases of meningioma, with a brief review of literature. One case in a 9-year-old girl, presented initially as an atypical meningioma in the right fronto-parietal region, which on recurrence 18 months later, evolved into a rhabdoid meningioma. The second case in a 33-year-old male was located in the right parieto-occipital region.

Papillary and rhabdoid meningiomas are pathologically World Health Organization (WHO) grade III. Any correlation between clinical prognosis and pathologic component is not clear. We analyzed the prognoses of patients with meningiomas with a rhabdoid or papillary component compared to those of patients with anaplastic meningiomas. From 1994 to June 2013, 14 anaplastic meningiomas, 6 meningiomas with a rhabdoid component, and 5 meningiomas with papillary component were pathologically diagnosed. We analyzed magnetic resonance imaging (MRI) findings, extent of removal, adjuvant treatment, progression-free survival (PFS), overall survival (OS), and pathologic features of 14 anaplastic meningiomas (group A), 5 meningiomas with a predominant (≥50%) papillary or rhabdoid component (group B1), and 6 meningiomas without a predominant (<50%) rhabdoid or papillary component (group B2). Homogeneous enhancement on MRI was associated with improved PFS compared to heterogeneous enhancement (p=0.025). Depending on pathology, the mean PFS was 134.9±31.6 months for group A, 46.6±13.4 months for group B1, and 118.7±19.2 months for group B2. The mean OS was 138.5±24.6 months for group A and 59.7±16.8 months for group B1. All recurrent tumors were of the previously diagnosed pathology, except for one tumor from group B1, which recurred as an atypical meningioma without a papillary component. Group B1 tumors showed a more aggressive behavior than group B2 tumors. In group B2 cases, the pathologic findings of non-rhabdoid/papillary portion could be considered for further adjuvant treatment. [ABSTRACT FROM AUTHOR]

The term “synovial sarcoma (SS)” is a histological error, a misnomer as it neither arises from nor differentiates toward synovium. Head and neck region is the most commonly affected region after extremities, representing 5% of all cases. This case report focuses to discuss a case of a SS that was diagnosed after an inadvertent root canal therapy. A 46-year-old male came to the outpatient department with a chief complaint of pain and swelling in his upper right back tooth region since 15 days. An ulceroproliferative mass of was observed protruding from the gingivobuccal sulcus from 11 to 15 tooth region obliterating the vestibule. [ABSTRACT FROM AUTHOR]

Extrarenal rhabdoid tumor (ERRT) is a rare, aggressive tumor with extremely poor prognosis. We report a case of ERRT with intraspinal extension in a 1.5-year-old child diagnosed by fine needle aspiration cytology (FNAC) and immunohistochemistry. The child presented with a right lumbar region lump of two months duration. Ultrasound guided FNAC was performed and cell block was prepared. Smears were highly cellular and showed a dispersed population of large round cells having abundant pale eosinophillic cytoplasm, centrally to eccentrically placed nucleus with large prominent nucleoli. Immunohistochemistry was carried out on cell block which was positive for epithelial membrane antigen EMA and Vimentin. It was negative for leucocyte common antigen [LCA], wilms tumor 1, WT1, desmin and neuron specific enolaseNSE, thus ruling out other tumors like lymphoma, Wilms tumor, rhabdomyosarcoma, and neuroblastoma. A final diagnosis of ERRT was given. ERRT is an extremely rare tumor of retroperitoneal area; it should be included in the differential diagnosis of malignant round cell tumor in children. Cell block in this case is mandatory for putting up the panel of immunohistochemistry which can clinch the diagnosis of rhabdoid tumor and treatment can be started as early as possible.

Rhabdoid tumor, first described in kidneys of infants and children, is an aggressive tumor that has been reported in several extrarenal locations. In this report, we describe the case of a 40-year-old patient with gastric adenocarcinoma composed of histologically well-differentiated glandular areas and focal rhabdoid zones. The rhabdoid component showed typical features such as abundant eosinophilic cytoplasm, eccentric nuclei, prominent nucleoli and intense focal positive immunohistochemical cytoplasmic reaction for vimentin. Recognition of the rhabdoid phenotype in gastrointestinal tract neoplasms is important because this feature is associated with poor prognosis and unresponsiveness to conventional therapy.

Background: The SWI/SNF ATP dependent chromatin remodeling complex is a multi-subunit complex, conserved in eukaryotic evolution that facilitates nucleosomal re-positioning relative to the DNA sequence. In recent years the SWI/SNF complex has emerged to play a role in cancer development as various sub-units of the complex are found to be mutated in a variety of tumors. One core-subunit of the complex, which has been well established as a tumor suppressor gene is SMARCB1 (SNF5/INI1/BAF47). Mutation and inactivation of have been identified as the underlying mechanism SMARCB1 leading to Malignant Rhabdoid Tumors (MRT) and Atypical Teratoid/Rhabdoid Tumors (AT/RT), two highly aggressive forms of pediatric neoplasms. Methods: We present a phosphoproteomic study of dependent changes in signaling networks. The SILAC Smarcb1 (Stable Isotopic Labeling of Amino Acids in Cell Culture) protocol was used to quantify in an unbiased manner any changes in the phosphoproteomic profile of deficient murine rhabdoid tumor cell lines following Smarcb1 Smarcb1 stable re-expression and under different serum conditions. Results: This study illustrates broad changes in the regulation of multiple biological networks including cell cycle progression, chromatin remodeling, cytoskeletal regulation and focal adhesion. Specifically, we identify Smarcb1 dependent changes in phosphorylation and expression of the EGF receptor, demonstrate downstream signaling and show that inhibition of EGFR signaling specifically hinders the proliferation of deficient cells. Smarcb1 Conclusions: These results support recent findings regarding the effectivity of EGFR inhibitors in hindering the proliferation of human MRT cells and demonstrate that activation of EGFR signaling in Rhabdoid tumors is SMARCB1 dependent. [ABSTRACT FROM AUTHOR]

Atypical teratoid/rhabdoid tumors are rare and highly malignant central nervous system tumors. They have no specific radiological features and often present several histological components that make a problem in differential diagnosis with medulloblastoma and primitive neuroectodermal tumors. We present the case of a newborn girl complained of a gradual proptosis of the left eye secondary to an expansive lesional process of the optic nerve. The location at the optic nerve, reported only twice in the literature, and an exclusive rhabdoid appearance on biopsy added additional differential diagnosis problems. The proptosis worsened and the infant died few days after two cycles of chemotherapy. [ABSTRACT FROM AUTHOR]

Extrarenal rhabdoid tumors (ERRTs) are extremely rare neoplasms; of these, colorectal ERRTs are the most rare, and only nine cases have been previously described in the English language literature. The current study reports the pathological features of a case of poorly differentiated cecal adenocarcinoma with prominent rhabdoid feature, which was combined with mucinous cystadenoma of the appendix in a 73-year-old male, and additionally reviews the previously reported cases. Microscopically, the majority of tumor cells were non-cohesive or loosely cohesive, with a polygonal morphology and prominent rhabdoid feature, showing eccentric vesicular nuclei, prominent nucleoli and abundant eosinophilic cytoplasm. Immunohistochemically, the tumor cells were positive for cytokeratin (CK) and vimentin, but negative for CK20, CK7, desmin and smooth muscle actin. This indicated a diagnosis of poorly differentiated adenocarcinoma with prominent rhabdoid features, combined with appendiceal mucinous cystadenoma. At two months following surgery the patient succumbed to peritoneal seeding and metastasis of liver and bone The emergence of the rhabdoid phenotype is invariably associated with an aggressive and almost always fatal clinical course. The present case is the 10th example of such a tumor in the colon, and to the best of our knowledge, this is the first case of colonic rhabdoid tumor coinciding with appendiceal benign mucinous neoplasm. [ABSTRACT FROM AUTHOR]

The broad morphologic spectrum, inherent immunophenotypic heterogeneity of malignant melanoma and its rarity in the sinonasal tract are major challenges in eliciting the correct diagnosis, which may lead to misclassification and inadequate medical management. Herein, we describe a single case of a 70 year-old male with sinonasal mucosal melanoma, exhibiting varying histologic phenotypes including small round blue cell morphology, epithelioid and focal rhabdoid morphology and strong, diffuse desmin immunoreactivity. These constellation of features initially prompted the diagnosis of rhabdomyosarcoma. The differential diagnosis in this anatomic area includes other malignant small round blue cell tumors of the sinonasal mucosa such as rhabdomyosarcoma, olfactory neuroblastoma, sinonasal undifferentiated carcinoma, and lymphoma. We reviewed precedent literature and further discuss the potential pitfalls to which pathologists may be prone. [ABSTRACT FROM AUTHOR]

Background: Rhabdoid tumors are malignant neoplasms of low prevalence, aggressive behavior, and high mortality. They were initially described as renal tumors, although tumors with the same histopathological and immunohistochemical characteristics have been discovered in other locations, mainly in the central nervous system. Few cases of mediastinal location have been reported internationally. This work aimed to describe the case of a mediastinal rhabdoid tumor., Case Report: We describe the case of an 8-month-old male patient admitted to the pediatric department with dysphonia and laryngeal stridor progressing to severe respiratory distress. Contrast-enhanced computed tomography of the thorax showed a large mass with homogeneous soft tissue density, and smooth and well-defined borders, with suspicion of malignant neoplasm. Due to the oncological emergency compressing the airway, empirical chemotherapy was initiated. Subsequently, the patient underwent incomplete tumor resection due to its invasive nature. The pathology report showed morphology compatible with a rhabdoid tumor, which immunohistochemical and genetic studies corroborated. Chemotherapy and radiotherapy to the mediastinum were administered. However, the patient died three months after the initial treatment due to the aggressive behavior of the tumor., Conclusions: Rhabdoid tumors are aggressive and malignant entities difficult to control and have poor survival. Early diagnosis and aggressive treatment are required, although the 5-year survival does not exceed 40%. It is necessary to analyze and report more similar cases to establish specific treatment guidelines., (Copyright: © 2023 Permanyer.)