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The histological similarities between pleomorphic adenomas (PAs) and cutaneous mixed tumors (CMTs) found in certain facial regions can create a diagnostic challenge. Molecular findings reveal common genetic profiles, particularly PLAG1 rearrangements in both PA and CMT. Although molecular distinctions have received limited attention, our observations indicate multiple cases of CMTs carrying the TRPS1::PLAG1 fusion. This clinical experience has driven our investigation into the potential diagnostic utility of TRPS1::PLAG1 fusions for determining tumor origin. Two cohorts consisting of 46 cases of CMT and 45 cases of PA of the salivary glands were obtained from French institutions and reviewed by specialists in each subspecialty. RNA sequencing analysis was conducted to identify the molecular features of cases harboring PLAG1. Clinical, pathological, and molecular data were collected. In this study, cases of CMT exhibited recurrent gene fusions, primarily TRPS1::PLAG1 (74%). These tumors shared characteristic histological features, including tubuloductal differentiation in 55% of cases and squamous metaplasia in varying proportions. In contrast, cases of PA had gene fusions involving PLAG1 with various gene partners, with only one case in which TRPS1::PLAG1 was identified. This disparity was also observed at the transcriptomic level between TRPS1::PLAG1 CMTs and other tumors. However, TRPS1 immunostaining did not correlate with TRPS1::PLAG1 fusion. In conclusion, we report that recurrent TRPS1::PLAG1 fusion CMTs exhibit similar characteristic histological features, including tubuloductal differentiation that is associated with squamous metaplasia in around half of cases. Detection of this fusion could be valuable in correctly identifying the origin of these tumors. © 2024 The Pathological Society of Great Britain and Ireland. [ABSTRACT FROM AUTHOR]

Introduction: Cutaneous chondroid syringoma (CS) is a rare benign mixed skin tumor originating from sweat glands. Despite its rarity, accurate diagnosis and management are crucial due to its potential for malignant transformation. Objective: This study aims to provide comprehensive insights into the main features of cutaneous CS, encompassing its epidemiology, clinical presentation, and particularly, dermoscopic findings. Methods: A systematic review was conducted to identify relevant literature on CS up to November 2023. Data extraction included clinical and histopathological characteristics from case reports and small case series. Results: The systematic review identified 347 unique CS cases, predominantly benign. Clinical features included a predilection for the head and neck region, with variations in morphology observed. Dermoscopic patterns, although limited, revealed recurrent features aiding diagnosis. Malignant CS cases constituted a notable subset, exhibiting distinct clinical and histopathological features. Conclusion: Cutaneous chondroid syringoma presents with characteristic clinical and histopathological features, necessitating comprehensive diagnostic approaches. Dermoscopy emerges as a valuable tool, although further research is needed to establish definitive patterns. Treatment primarily involves wide local excision, with collaboration among clinicians essential for optimal management. Future studies are warranted to address existing knowledge gaps and enhance understanding of this rare skin neoplasm.

Chondroid syringoma of the skin is a rare, benign skin adnexal tumor, usually exhibited as a slowly growing intradermal or subcutaneous nodule, typically located in the head-and-neck region. Chondroid syringoma usually appears on the face, the medial canthus being a rare site of predilection. The diagnosis is usually made retrospectively based on histological features of the surgically excised mass, which is usually asymptomatic. We present a rare case of an 18-year-old man who presented with a painless, subcutaneous nodule medial to the medial canthus of the left eye. The diagnosis of chondroid syringoma was rendered. To the best of our knowledge, only one case of chondroid syringoma of the medial canthus has been documented in the literature. A histopathological examination is mandatory for arriving at the diagnosis. It should be considered in the differential diagnosis of all the slowly growing nodular lesions in the face.

Key Clinical Message: Subcutaneous tumors of the head and neck resembling cutaneous mixed tumors may be misdiagnosed pleomorphic adenomas of salivary gland origin. Physicians should consider salivary mixed tumors in the differential diagnosis for suspected cutaneous tumors. [ABSTRACT FROM AUTHOR]

Key Clinical Message Subcutaneous tumors of the head and neck resembling cutaneous mixed tumors may be misdiagnosed pleomorphic adenomas of salivary gland origin. Physicians should consider salivary mixed tumors in the differential diagnosis for suspected cutaneous tumors.

Chondroid syringoma is a rare tumor of sweat gland origin. Usually benign, malignant transformation is more commonly seen in tumors of pedal origin, making this a concerning clinical finding. This case study reviews the identification, diagnosis and treatment of a benign chondroid syringoma in the right second toe of a patient.

Chondroid syringoma is a benign, rare, asymptomatic, slow-growing mixed tumor. Tumors larger than 3cm are considered giant and may be malignant. We present a 65-year-old man with a chronic, indolent, subcutaneous tumor with upper lip deformity. An excisional biopsy was performed under local anesthesia. Based on histopathological analysis, the resected lesion was identified as a chondroid syringoma of the apocrine type. There was no recurrence during the one-year follow-up after surgery. The occurrence of a large chondroid syringoma in the upper lip is rare.

Mixed tumour of the skin is a rare adnexal tumour of sweat gland origin, which can be benign or malignant. Histologically, it is defined by the presence of epithelial, myoepithelial and mesenchymal elements. The latter can take several forms, but both bone formation and cartilage formation are independently rare features. We present three rare cases of mixed tumour of the skin. Two of these displayed both mature bone and cartilaginous mesenchymal elements, while the third displayed mature bone formation without cartilage. [ABSTRACT FROM AUTHOR]

Objective To investigate the clinicopathological features, diagnosis and differential diagnosis of mixed skin tumor. Methods We retrospectively analyzed the data of 18 patients with mixed skin tumors from our department from March 2017 to September 2021. Results The male to female ratio of the 18 cases was 1 ∶1, with the onset age of 24 to 64 years. All patients had facial involvement (most common on the nose), and exhibited asymptomatic singular nodule in light red or skin color. The histological findings revealed mixed skin tumor, including differentiation toward eccrine glands in 3 cases and apocrine glands in 15 cases. None of the 18 patients was clinically diagnosed as mixed skin tumor. All 18 patients underwent surgical resection and were followed up for 2 months to 1 year without recurrence. Conclusions Mixed skin tumor is a rare benign tumor. The diagnosis of the disease is mainly dependent on histopathological examination.

Chondroid Syringoma is a rare benign mixed tumor characterized by gland elements in a cartilaginous stroma. These tumors most commonly occur in the skin of the head and neck district, affecting only rarely the periorbital area.Below we present two cases of Chondroid Syringoma, the first on the upper lip, and the second in the orbital cavity. Both are characterized by an epithelial component in a cartilaginous stroma.

Background: The axilla, a triangular area which is located between the upper arm and thorax, contains blood vessels, nerves, lymph nodes, and fat. Axillary swellings can arise from these various mesenchymal tissues present in the axillary area. The most common palpable axillary masses are usually lymph nodes. Fine needle aspiration cytology (FNAC) is the first line investigative technique with differential diagnosis includes reactive hyperplasia, inflammatory conditions, granulomatous disorders and malignancy. FNAC is a rapid, less invasive, less traumatic, and easily accessible and a cheap diagnostic tool to differentiate the benign or the malignant nature of the swelling. Aims and Objectives: Study is undertaken to document the spectrum of axillary lesions. Value of FNAC as a rapid diagnostic tool in diagnosing the axillary lesions. Materials and Methods: Present study is an 18 months cross-sectional study carried out in department of pathology, tertiary care hospital. Patients demographic and clinical data were collected from request forms. Slides were reviewed and analyzed. Data were entered in microsoft excel and analyzed. Results: Out of total 110 cases analyzed, ratio of female to male is 3.07. There were 41.8% benign and 13.6% malignant cases. 42.7% were inflammatory and 1.9% congenital lesions (ectopic breast). The most common lesions encountered are from lymph node (51.8%) (lymphadenitis-most common) followed by soft tissue tumor (Lipoma – most common). Rare lesions include nonhodgkin lymphoma, hodgkin lymphoma, neurofibroma, and chondroid syringoma. Conclusion: FNAC is an outpatient-based accurate, rapid procedure helps in timely diagnosis of various axillary lesions including clinically and radiologically ambiguous cases. It also helps to discriminate benign and malignant lesions with less chances of false negative results.

Background: Cutaneous mixed tumors (CMTs) include benign, atypical, and malignant chondroid syringomas. This spectrum of entities is known to be a part of myoepithelial neoplasms, which display considerable genetic heterogeneity. In a previous report, a malignant chondroid syringoma (MCS) demonstrated PHF1-TFE3 gene fusion and strong TFE3 immunohistochemical (IHC) staining. The authors suggested that the MCS is genetically related to tumors with TFE3 rearrangements such as renal cell carcinoma and might have genetic heterogeneity. In this study, we aim to investigate potential TFE3 gene fusions with TFE3 IHC stain in a spectrum of CMTs. Materials: Eleven benign chondroid syringoma (BCS), one atypical chondroid syringoma (ACS), and one malignant chondroid syringoma cases were identified, stained with TFE3 IHC stain, and interpreted based on preset criteria. Results: ACS and MCS cases did not show any staining. In 7 of 11 BCS cases, weak (1+) staining was observed in less than 20% of the tumor cells and were considered negative. Additionally, in one BCS case, weak (1+) and (2+) staining was shown in approximately 15% and less than 1% of the tumor cells, respectively. Based on our positivity criteria, this case was also interpreted as negative. Conclusions: Our study failed to reveal possible TFE3 gene fusion by IHC staining in benign, atypical, and malignant chondroid syringomas. Although the negative staining in MCS suggests a genetic heterogeneity in this entity, further studies with larger case groups are needed for a more definitive conclusion.

Chondroid syringoma is a rare benign tumor of the skin appendages. Chondroid syringoma is mostly manifested by a slow-growing, painless, well defined subcutaneous or intradermal nodule. A 43-year-old man presented to our clinic with the complaint of an asymptomatic nodule on the dorsum of the nose for 8 months. The lesion was totally excised. Histopathological examination was notable for epithelial islets embedded in the chondroid matrix in the dermis. The patient was diagnosed with chondroid syringoma in light of the clinical and histopathological findings.

Chondroid syringomas are rare, benign tumors originating from sweat glands occurring as singular lesions of the head and neck. This case report presents a patient in whom multiple chondroid syringoma lesions were found. Thus illuminating the possibility for such occurrences in the future of which physicians should be aware. [ABSTRACT FROM AUTHOR]

Introduction: Soft-tissue chondromas are rare, benign cartilaginous tumors predominantly affecting the extremities, often diagnosed in middle-aged individuals without a clear sex predilection. Despite their benign nature, these tumors can pose significant diagnostic challenges due to their slow growth, asymptomatic nature, and potential for mimicking other soft-tissue tumors., Case Report: We report a case of a 27-year-old male with an 8-year history of a progressively enlarging mass on the dorsal aspect of the second toe of the left foot, leading to pain, difficulty in walking, and wearing shoes. Initial clinical examination revealed a firm, non-tender swelling with hypoesthesia over the affected area. Radiographic findings suggested a soft-tissue mass with stippled calcification, while magnetic resonance imaging indicated a large altered signal intensity lesion abutting but not arising from the bone. Fine needle aspiration cytology hinted at a benign mixed tumor/chondroid syringoma. An excisional biopsy was performed, revealing a well-circumscribed tumor with lobules of mature hyaline cartilage, consistent with a diagnosis of soft-tissue chondroma. Post-operative period recovery was uneventful except for local flap necrosis which was managed with skin grafting. There was no recurrence at the 1-year follow-up., Conclusion: Soft-tissue chondromas, while rare and benign, can significantly impact patients' quality of life. Correct diagnosis, involving a comprehensive evaluation and histopathological confirmation, is crucial for effective management and prevention of unnecessary interventions. This case adds valuable insight into the clinical presentation, diagnostic challenges, and management strategies for soft-tissue chondromas., Competing Interests: Conflict of Interest: Nil, (Copyright: © Indian Orthopaedic Research Group.)

Mixed tumour of the skin is a rare entity also known as chondroid syringoma and pleomorphic adenoma. These usually present as slow-growing skin nodules with a smooth surface, clear boundaries, and no ulceration. Case series exist describing pleomorphic adenomas in the periocular region including the lids and orbit, separate to the more familiar lacrimal gland pleomorphic adenoma. These may arise from accessory or ectopic lacrimal gland tissue but in the eyelids are more likely to arise from sweat glands in the skin. Histopathological analysis of these lesions is important to identify complete excision, minimising recurrences and in identifying rare but potential malignant transformation. We describe the clinical features and outcomes in three cases of pleomorphic adenoma with two at the medial canthus (including one recurrence) and one in the brow region. [ABSTRACT FROM AUTHOR]

Chondroid syringoma was seen in 44 years old male patient that was located on the mustache area of the left side of the upper lip. The clinical picture and the duration of the disease was very suggestive of keratoacanthoma, hence was treated with topical podophyllin for two months but there was no response. The tumor was extracted completely and histopathological assessment showed a picture of chondroid syringoma rather than keratoacanthoma. The clinical presentation of this case is very interesting and strange, accordingly, it deserves reporting and reviewing the literature. [ABSTRACT FROM AUTHOR]

Chondroid syringomas (CSs) are benign adnexal skin tumors usually affecting adolescent females in the periorbital region, and may have calcifications. Malignant transformation is very rarely encountered. There is a tendency to either medical treatment or intralesional injection of these lesions when confirmed benign especially if multiple. We herein describe a female with a periorbital benign CS. The presurgery cytology failed to predict the diagnosis, but surgical excision was attempted with good result. Both pathologists and surgeons are encouraged to add this differential in their diagnostic package of facial subcutaneous swellings.

Background: The axilla, a triangular area which is located between the upper arm and thorax, contains blood vessels, nerves, lymph nodes, and fat. Axillary swellings can arise from these various mesenchymal tissues present in the axillary area. The most common palpable axillary masses are usually lymph nodes. Fine needle aspiration cytology (FNAC) is the first line investigative technique with differential diagnosis includes reactive hyperplasia, inflammatory conditions, granulomatous disorders and malignancy. FNAC is a rapid, less invasive, less traumatic, and easily accessible and a cheap diagnostic tool to differentiate the benign or the malignant nature of the swelling. Aims and Objectives: Study is undertaken to document the spectrum of axillary lesions. Value of FNAC as a rapid diagnostic tool in diagnosing the axillary lesions. Materials and Methods: Present study is an 18 months cross-sectional study carried out in department of pathology, tertiary care hospital. Patients demographic and clinical data were collected from request forms. Slides were reviewed and analyzed. Data were entered in microsoft excel and analyzed. Results: Out of total 110 cases analyzed, ratio of female to male is 3.07. There were 41.8% benign and 13.6% malignant cases. 42.7% were inflammatory and 1.9% congenital lesions (ectopic breast). The most common lesions encountered are from lymph node (51.8%) (lymphadenitis-most common) followed by soft tissue tumor (Lipoma - most common). Rare lesions include nonhodgkin lymphoma, hodgkin lymphoma, neurofibroma, and chondroid syringoma. Conclusion: FNAC is an outpatient-based accurate, rapid procedure helps in timely diagnosis of various axillary lesions including clinically and radiologically ambiguous cases. It also helps to discriminate benign and malignant lesions with less chances of false negative results. [ABSTRACT FROM AUTHOR]

Background: Cutaneous mixed tumors (CMTs) include benign, atypical, and malignant chondroid syringomas. This spectrum of entities is known to be a part of myoepithelial neoplasms, which display considerable genetic heterogeneity. In a previous report, a malignant chondroid syringoma (MCS) demonstrated PHF1-TFE3 gene fusion and strong TFE3 immunohistochemical (IHC) staining. The authors suggested that the MCS is genetically related to tumors with TFE3 rearrangements such as renal cell carcinoma and might have genetic heterogeneity. In this study, we aim to investigate potential TFE3 gene fusions with TFE3 IHC stain in a spectrum of CMTs. Materials: Eleven benign chondroid syringoma (BCS), one atypical chondroid syringoma (ACS), and one malignant chondroid syringoma cases were identified, stained with TFE3 IHC stain, and interpreted based on preset criteria. Results: ACS and MCS cases did not show any staining. In 7 of 11 BCS cases, weak (1+) staining was observed in less than 20% of the tumor cells and were considered negative. Additionally, in one BCS case, weak (1+) and (2+) staining was shown in approximately 15% and less than 1% of the tumor cells, respectively. Based on our positivity criteria, this case was also interpreted as negative. Conclusions: Our study failed to reveal possible TFE3 gene fusion by IHC staining in benign, atypical, and malignant chondroid syringomas. Although the negative staining in MCS suggests a genetic heterogeneity in this entity, further studies with larger case groups are needed for a more definitive conclusion. [ABSTRACT FROM AUTHOR]

A 74 year-old woman presented with a 9 month history of a slowly enlarging exophytic lesion over her left nasal alar. Examination revealed a firm, cystic mass fixed to underlying skin. It was pedunculated with occasional superficial telangiectasia and a violaceous hue. A differential diagnosis of dermoid or sebaceous cyst, dermatofibroma, and neurofibroma was considered. Histopathological examination confirmed the rare diagnosis of chondroid syringoma (CS), which has a reported incidence of 0.01- 0.098% of excised skin tumors. It is unusual for CS to present in an elderly woman, as these benign primary skin tumors normally present in adult males. Dermoscopy does not reveal any specific features and the diagnosis is difficult to make based on clinical examination alone.

Lacrimal gland chondroid syringoma is a very rare tumor with classic clinico-radiological symptoms that should be familiar to clinicians for appropriate patients' management as the tumor has potential for recurrence and malignant transformation. We report herein a case of chondroid syringoma in a 35-year-old patient presenting with progressive painless proptosis for 2 years. He underwent complete surgical removal of the tumor, with subsequent clinical improvement of his symptoms. [ABSTRACT FROM AUTHOR]

Cutaneous mixed tumor or chondroid syringoma is a rare benign, skin appendageal tumor prevalent in areas of the head and neck. It represents the cutaneous counterpart of the pleomorphic adenoma of salivary glands. Its clinical presentation often misguides the clinician to underdiagnose it as a reactive lesion. We report the case of a 94-year-old male admitted for excision of cutaneous carcinoma concurrently with a chondroid syringoma of the pinna provisionally misdiagnosed as a keloid., Competing Interests: Human subjects: Consent 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: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Vijayakumar et al.)

Chondroid syringomas (CSs) are benign adnexal skin tumors usually affecting adolescent females in the periorbital region, and may have calcifications. Malignant transformation is very rarely encountered. There is a tendency to either medical treatment or intralesional injection of these lesions when confirmed benign especially if multiple. We herein describe a female with a periorbital benign CS. The presurgery cytology failed to predict the diagnosis, but surgical excision was attempted with good result. Both pathologists and surgeons are encouraged to add this differential in their diagnostic package of facial subcutaneous swellings. [ABSTRACT FROM AUTHOR]

Chondroid syringoma (CS) represents the cutaneous counterpart of mixed tumor (pleomorphic adenoma) of salivary glands. Definitive diagnosis is made on histopathology and is based on the presence of characteristic epithelial and stromal components. We report a case of an atypical CS arising on the extremity of an elderly male patient. Histomorphologic features of necrosis and cellular atypia raised suspicion for malignant degeneration, an exceptionally rare circumstance in this context. To further support the diagnosis of malignancy, array comparative genomic hybridization was performed from both low and higher grade areas of the tumor. Both regions demonstrated multiple copy number gains and losses, with additional loss of q7p (TP53), loss of 19p, and loss of heterozygosity on16q demonstrated in the more atypical foci. To our knowledge, this is the first case description of malignant degeneration of a CS with correlative microarray analysis. The findings in this case may prove useful in confirming the diagnosis in future ambiguous cases. [ABSTRACT FROM AUTHOR]

Malignant chondroid syringoma (MCS; malignant mixed tumour) is a rare neoplasm typically arising on the extremities and trunk. We are report 2 unique cases of MCS, one occurring on the scalp of a 78-year-old man and the other on the trunk of a 72-year-old woman. Both tumours harboured malignant epithelial and malignant mesenchymal components. The latter was represented by liposarcoma in the first case. The malignant components of the second tumour comprised spindle cell squamous cell carcinoma (SCC) and osteosarcoma. Origin from a pre-existing benign chondroid syringoma was clearly evident in both neoplasms. The presence of heterologous malignant mesenchymal components, however, is hitherto unreported in the context of MCS, while a spindle cell SCC component is exceptionally rare. The 2 cases presented herein highlight an expanded morphological spectrum of MCS, with resultant blurring of the boundaries between MCS and cutaneous carcinosarcoma.

MM Aarif Syed,1 Upama Paudel,1 Aasiya Rajbhandari,2 Dinesh Binod Pokhrel,1 Ram Chandra Adhikari,2 Sudip Parajuli11Department of Dermatology and Venereology, Institute of Medicine, Tribhuvan University, Kathmandu, Nepal; 2Department of Pathology, Institute of Medicine, Tribhuvan University, Kathmandu, NepalAbstract: We report a case of chondroid syringoma (CS) in a 44-year-old male. He presented with a firm asymptomatic nodule in his left upper lip of 2-year duration. The initial clue to the diagnosis was made on fine needle aspiration cytology (FNAC), and a final diagnosis was based on histopathological examination. The case highlights the importance of FNAC in providing clues to the diagnosis of suspected cases of chondroid syringoma before performing large excisions and repair, which would require more skill and time. We have also reviewed the cytological findings of all the cases of benign CS reported until the current date.Keywords: chondroid syringoma, pleomorphic adenoma, adnexal tumours, fine needle aspiration cytology

This case report describes a pleomorphic adenoma in an unusual location. A 47-year-old man presented with a painless, slow growing tumor in his upper lip. An interview and physical examination were the basis for an initial diagnosis of a benign tumor. The lesion was removed entirely under local anesthesia using the trans-mucosal route. Histopathological examination revealed pleomorphic adenoma. The patient remains under constant outpatient control. [ABSTRACT FROM AUTHOR]

BACKGROUND: The chondroid syringoma is a slow-growing benign epithelial tumor derived from the eccrine or apocrine sweat glands of the skin. It is characterized by the presence of epithelial and myoepithelial structures within a cartilaginous and myxoid stroma. The incidence is low and is observed more frequently in men, with a characteristic topography of the head and face. They are classified into myoepithelial neoplasms of skin and soft tissues. The risk of malignancy is extremely rare, but follow-up is recommended. CLINICAL CASE: We report the case of a man in his fifth decade of life, with chondroid syringoma in the left nasal wing who was treated with surgical excision. CONCLUSIONS: The importance of reporting this case lies in the fact that it is a rare benign neoplasm, which should be suspected when we have a nodular appearance of new growth in the nose; however, for its diagnosis a histopathological study is necessary, and the treatment of choice is surgical excision. [ABSTRACT FROM AUTHOR]

Cutaneous mixed tumors exhibit a wide morphologic diversity and are currently classified into apocrine and eccrine types based on their morphologic differentiation. Some cases of apocrine-type cutaneous mixed tumors (ACMT), namely, hyaline cell-rich apocrine cutaneous mixed tumors (HCR-ACMT) show a prominent or exclusive plasmacytoid myoepithelial component. Although recurrent fusions of PLAG1 have been observed in ACMT, the oncogenic driver of eccrine-type cutaneous mixed tumors (ECMT) is still unknown. The aim of the study was to provide a comprehensive morphologic, immunohistochemical, and molecular characterization of these tumors. Forty-one cases were included in this study: 28 cases of ACMT/HCR-ACMT and 13 cases of ECMT. After morphologic and immunohistochemical characterization, all specimens were analyzed by RNA sequencing. By immunohistochemistry, all cases showed expression of SOX10, but only ACMT/HCR-ACMT showed expression of PLAG1 and HMGA2. RNA sequencing confirmed the presence of recurrent fusion of PLAG1 or HMGA2 in all cases of ACMT/HCR-ACMT, with a perfect correlation with PLAG1/HMGA2 immunohistochemical status, and revealed internal tandem duplications of SOX10 (SOX10-ITD) in all cases of ECMT. Although TRPS1::PLAG1 was the most frequent fusion, HMGA2::WIF1 and HMGA2::NFIB were detected in ACMT cases. Clustering analysis based on gene expression profiling of 110 tumors, including numerous histotypes, showed that ECMT formed a distinct group compared with all other tumors. ACMT, HCR-ACMT, and salivary gland pleomorphic adenoma clustered together, whereas myoepithelioma with fusions of EWSR1, FUS, PBX1, PBX3, POU5F1, and KLF17 formed another cluster. Follow-up showed no evidence of disease in 23 cases across all 3 tumor types. In conclusion, our study demonstrated for the first time SOX10-ITD in ECMT and HMGA2 fusions in ACMT and further refined the prevalence of PLAG1 fusions in ACMT. Clustering analyses revealed the transcriptomic distance between these different tumors, especially in the heterogenous group of myoepitheliomas., (Copyright © 2024 United States & Canadian Academy of Pathology. Published by Elsevier Inc. All rights reserved.)

IntroductionChondroid syrigomas are rare, usually benign tumors occurring predominantly in the head and neck area. These are also known as mixed tumors of skin. Preoperative diagnosis is difficult and generally histopathology examination confirms the diagnosis. The usual presentation is that of a slowly growing mass.Case ReportA rare case of chondroid syringoma on dorsum of external nose in 30 year old female patient is presented.DiscussionChondroid syringoma presents as slow‐growing, painless, subcutaneous or intracutaneous nodule in middle‐aged adult males. The tumor is often initially confused with more common dermatologic skin disorders such as sebaceous cysts, dermoid cysts, neurofibromas, dermatofibromas, basal cell carcinoma, histiocytoma and seborrheic keratosis. The treatment of choice is surgical excision with negative margins with follow-up to detect recurrences.

Mixed tumour of the skin is a rare entity that was initially described over a century ago. Its terminology has been discussed several times. Other commonly used names are chondroid syringoma or pleomorphic adenoma of the skin. It generally presents as a slow-growing subcutaneous mass and it is most commonly seen on the nose or scalp.Whilst its clinical course is most often uneventful, careful histopathological analysis of these lesions is of importance to monitor possible recurrences and identify possible pre-malignant features. The variability of histopathological findings in mixed tumours of the skin may represent a source of conflict amongst pathologist and other specialists, thus explaining the different terminology for this entity (cutaneous mixed tumour, chondroid syringoma and pleomorphic adenoma of the skin) and it’s probable under-representation in the litterature.Herein, we provide a short review on the nomenclature of this disease and describe three cases of mixed tumour of the skin with distinctive histopathological patterns; one vascular, one recurrent and one with atypical cytological features.

Hyaline cell-rich apocrine mixed tumor is relatively rare, and it often possesses atypical cells. Despite the presence of atypical cells, other histopathological features such as well circumscription, smooth border, predominance of bland cells, and no mitotic figures lead to classify these tumors as benign. In addition, no recurrence or metastasis has been reported even when cytologic atypia is identified. Here we report a case of hyaline cell-rich apocrine mixed tumor with cytologic atypia, which did not recur for 14 months after excision.

Chondroid syringoma (CS) is a rare mixed tumor of sweat gland origin with a reported incidence of less than 0.1%. The tumor is mostly benign and usually seen in males. It comprises of both epithelial and mesenchymal elements. The usual presentation and clinical course of this condition makes it liable to be confused with other commoner skin conditions. We hereby present a case of facial CS in a young female patient. [ABSTRACT FROM AUTHOR]

Background/Aim: Chondroid syringoma is a rare benign tumor emanating from sweat glands. Although rearrangements of the pleomorphic adenoma gene 1 (PLAG1) have been reported in such tumors, information on PLAG1 fusion genes is very limited. Materials and Methods: Cytogenetic, fluorescence in situ hybridization, RNA sequencing, array comparative genomic hybridization, reverse transcription polymerase chain reaction, and Sanger sequencing analyses were performed on two chondroid syringoma cases. Results: Both tumors had structural rearrangements of chromosome 8. An NDRG1-PLAG1 transcript was found in the first tumor in which exon 3 of PLAG1 was fused with exon 1 of NDRG1. A TRPS1-PLAG1 chimeric transcript was detected in the second chondroid syringoma in which exon 2 or exon 3 of PLAG1 was fused with exon 1 of TRPS1. Conclusion: The NDRG1-PLAG1 and TRPS1-PLAG1 resemble other PLAG1 fusion genes inasmuch as the expression of PLAG1 comes under the control of the NDRG1 or TRPS1 promoter. [ABSTRACT FROM AUTHOR]

IntroductionChondroid syrigomas are rare, usually benign tumors occurring predominantly in the head and neck area. These are also known as mixed tumors of skin. Preoperative diagnosis is difficult and generally histopathology examination confirms the diagnosis. The usual presentation is that of a slowly growing mass.Case ReportA rare case of chondroid syringoma on dorsum of external nose in 30 year old female patient is presented.DiscussionChondroid syringoma presents as slow‐growing, painless, subcutaneous or intracutaneous nodule in middle‐aged adult males. The tumor is often initially confused with more common dermatologic skin disorders such as sebaceous cysts, dermoid cysts, neurofibromas, dermatofibromas, basal cell carcinoma, histiocytoma and seborrheic keratosis. The treatment of choice is surgical excision with negative margins with follow-up to detect recurrences.

A chondroid syringoma is an exceptionally rare benign lesion of the sweat glands also known as mixed tumor of the skin (MTS). It can occur in different areas of the head and neck such as the lips, cheek, nose and scalp (Gotoh et al., 2022 [1]). It is usually painless and grows slowly. Based on pathological features it can be differentiated into apocrine or eccrine (Mixed cutaneous tumor: chondroid syringoma a case report , 2019 [2]). Our patient presented with a nasal lesion in the left soft triangle, progressively increasing in size. He did not undergo any surgeries to the nose or any history of trauma. Due to the COVID-19 lockdown our patient did not seek early medical advice. In addition, the implementation of facemasks enabled for the concealment of the abnormality, which reduced the need of seeking treatment. Chondroid syringoma is a non-ulcerative tumor that grows slowly with an average diameter between 0.5 and 3 cm, however lesions reaching 9 cm have been also seen (Wan et al., 2018 [4]). The mainstay method of management is surgical excision while maintaining the aesthetic appearance of the patient. Owing to its rarity, clinical misdiagnosis is common, however absolute diagnosis is achieved by histopathology. This case delineates the rarity of this lesion and the mainstay method of management, which is surgical excision. • A chondroid syringoma is a very rare benign tumor of the sweat glands also known as mixed tumor of the skin (MTS). • It's considered extremely rare, and according to literature the incidence is really low ranging between 0.01%-0.098% with a male predominance • Definite diagnosis is done by histopathology results of the excised mass • The mainstay method of management is surgical excision while maintaining the aesthetic appearance of the patient. [ABSTRACT FROM AUTHOR]

Chondroid syringoma - also known as mixed tumor of the skin - is a benign skin tumor often occurring in the head and neck region, that usually presents as a slow growing well-defined swelling in adults, with occasional commitment of the lips. The aim of this study was to report an illustrative case of chondroid syringoma in the lower lip of a 43-year-old male patient from Brazil. Physical examination revealed an asymptomatic hardened swelling of normal coloration, measuring 3.0 cm, located at the transition between the skin and semi-mucosa of the lower lip. Under the clinical hypothesis of a salivary gland tumor, an excisional biopsy was performed under local anesthesia. After histopathologic examination the final diagnosis was of chondroid syringoma of the lower lip. There is no evidence of recurrence one year after surgical procedure. Clinicians should consider chondroid syringoma when evaluating well-defined swellings of the lower lip. [ABSTRACT FROM AUTHOR]

Chondroid syringoma (CS) also known as mixed tumor of the skin, is a rare benign adnexal tumor accounting for < 0.098%. Epithelial cells arranged in cords and tubules set in myxoid or chondroid stroma. Differentiation such as osteoid, sebaceous or mature adipocytes can be seen rarely. Hyaline cell rich is a rare variant of CS composed of cells with eosinophilic hyaline cytoplasm and plasmacytoid features. CS can have benign, atypical and malignant variants. The term atypical mixed tumor is recommended for those tumors which have histological features of malignancy such as infiltrative margin, satellite tumor nodules and tumor necrosis but without proven metastasis. Very few case reports of hyaline cellrich benign CS have been reported in the past, but to the best of our knowledge, possibly it is the first case of atypical hyaline cellrich CS of the little finger in a 65 year-old female showing divergent differentiation.

Chondroid syringoma is a rare adnexal tumor of skin, with few cases diagnosed on fine needle aspiration cytology (FNAC). Hyaline cell-rich chondroid syringoma (HCRCS) is a very uncommon variant of chondroid syringoma described in histopathologic studies. This variant differs from the usual chondroid syringoma in its site of presentation, cytohistologic features, and morphologically mimics malignant neoplasms. To the best of our knowledge, cytologic features of this entity have never been described. This case report highlights some unusual features of this tumor and discusses the cytologic features of HCRCS along with neoplastic mimics., (© 2023 Wiley Periodicals LLC.)

Tubular apocrine adenoma is a rare benign adnexal neoplasm most commonly identified in the scalp, composed of a dermal proliferation of apocrine tubules in a background of hyalinized stroma. Tubular apocrine adenoma can be a component of various sweat gland tumors and can also morphologically overlap with other sweat gland neoplasms. Isolated tubular apocrine adenoma arising in the glands of Moll is exceedingly rare, with only 4 previously reported cases. We present a 63-year-old male with tubular apocrine adenoma of the left upper eyelid, which recurred following initial incomplete excision. Although the lesion showed focal morphologic similarity to the apocrine variant of pleomorphic adenoma (chondroid syringoma), the diagnosis of tubular apocrine adenoma was supported by fluorescence in situ hybridization studies, which demonstrated absence of PLAG1 and HMGA2 gene rearrangements seen in pleomorphic adenoma. This case illustrates the clinical, microscopic and immunohistochemical features of tubular apocrine adenoma. The recent advances in our understanding of the molecular genetics of tubular apocrine adenoma and related tumors, and how these advances shape the evolving classification of sweat gland tumors are reviewed. [ABSTRACT FROM AUTHOR]

Malignant chondroid syringoma (MCS; malignant mixed tumour) is a rare neoplasm typically arising on the extremities and trunk. We are report 2 unique cases of MCS, one occurring on the scalp of a 78-year-old man and the other on the trunk of a 72-year-old woman. Both tumours harboured malignant epithelial and malignant mesenchymal components. The latter was represented by liposarcoma in the first case. The malignant components of the second tumour comprised spindle cell squamous cell carcinoma (SCC) and osteosarcoma. Origin from a pre-existing benign chondroid syringoma was clearly evident in both neoplasms. The presence of heterologous malignant mesenchymal components, however, is hitherto unreported in the context of MCS, while a spindle cell SCC component is exceptionally rare. The 2 cases presented herein highlight an expanded morphological spectrum of MCS, with resultant blurring of the boundaries between MCS and cutaneous carcinosarcoma. [ABSTRACT FROM AUTHOR]

Mixed/biphasic tumors include epithelial-myoepithelial tumors, pleomorphic adenoma, matrix-producing tumors, cutaneous mixed tumors such as chondroid syringoma (CS), malignant mixed tumors (carcinosarcomas), pulmonary blastomas (in lung), and many others. Morphology may show overlap between various mixed tumors. At any particular site, whether these tumors are primary or metastasis from other sites is difficult to determine, more so if primary is unknown or not disclosed. CS is a rare benign mixed/biphasic skin adnexal tumor, considered as cutaneous counterpart of pleomorphic adenoma. Its malignant variant, malignant CS is reported only occasionally. We describe a case of a 51 year old female who presented with multiple masses in both lungs. This case is a very rare example of late metastasis to lungs from a primary malignant CS of thigh.

Chondroid syringoma (CS) (mixed tumor of the skin) is a rare neoplasm of the sweat glands, which presents itself as a slow-growing, painless, nonulcerated, subcutaneous or intracutaneous mass often occurring in the head and neck region. The clinician may miss the diagnosis of this lesion due to its rarity. CS should be considered in the differential diagnosis of any subcutaneous nodules, especially in the head and neck region. The diagnosis of CS is mainly based on the histopathologic examination. This article presents a 35-year-old male with a mass on the upper lip that was histopathologically diagnosed as an apocrine variant of benign CS with squamous metaplasia after surgical excision. No sign of recurrence is evident till date during the follow-up. We report this case because of its rarity. A brief literature review and all the reported cases in the lip have been listed. [ABSTRACT FROM AUTHOR]

A rare variant of cutaneous chondroid syringoma, with epithelial differentiation composed of apocrine, follicular, and sebaceous components and showing the presence of predominantly lipomatous stroma, is being reported in a 54-year-old female.