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Aim To describe two cases of intra-articular nodular fasciitis (NF) which developed within the knee joint and were associated with the expression of the MYH9-USP6 gene fusion. Patients and methods Two women, 30 and 56 years of age, with no history of joint disease or knee joint trauma, are presented in our cases. We report these cases describing the clinical presentation, assessment, histopathological examination, gene expression, and clinical management. Results Both patients presented with knee pain and limitation in the range of flexion. We diagnosed our two cases as intraarticular nodular fasciitis based on histological findings and by the detection of the MYH9-USP6 gene fusion. The transcript of MYH9-USP6 gene fusion was identified by RT-PCR and direct sequencing in both cases. Conclusion We report the first cases of intra-articular NF involving the knee joint, with identification of a MYH9-USP6 gene fusion by RT-PCR. NF should be considered in the differential diagnosis of intra-articular lesions.

Introduction Sarcomatoid carcinoma (SC) is a rare subtype of malignant neoplasm with a poor prognosis that involves both carcinomatous and sarcomatous components. Although it may develop in various organs, SC in the large intestine has rarely been reported. It is not rare for patients with SC to have distant metastasis, reflecting its highly aggressive oncologic features, but cases with brain metastasis on initial visit are rare. In this report, we described a case of SC in the transverse colon with brain metastases whose initial symptom was neurological disorder, and reviewed 31 reported cases of SC. Case presentation A 70-year-old man was admitted to our hospital with the chief complaints of gait disorder and severe dizziness. Head magnetic resonance imaging revealed tumor masses in the anterior lobe and cerebellum. A large tumor in the transverse colon was detected by colonoscopy and abdominal enhanced computed tomography (CT), and was diagnosed as undifferentiated adenocarcinoma by histology. Laparoscopic extended right hemicolectomy was performed to remove the obstruction, and the resected specimens revealed an invasive tumor consisting of a mixture of carcinomatous and sarcomatous components. According to the immunopathological study, the patient was diagnosed with SC. The clinical course was extremely aggressive, and the patient died on the 28th postoperative day because of disease progression. Conclusion To the best of our knowledge, this is the first case of SC in the transverse colon with a neurological disorder derived from brain metastases. This experience may contribute to the guidance regarding proper therapeutic options for SC.

Highlights • Laparoscopic surgery is less invasive but leads to a peculiar recurrence pattern. • Aspiration biopsy provides limited diagnostic accuracy in some cases. • Preoperative histological diagnosis should always be confirmed with D&C. • Preoperative recurrence risk might be underestimated. • TLH associated with poor oncologic outcomes in moderate to high recurrence risk., Introduction Laparoscopic surgery for early-stage endometrial cancer is associated with lower morbidity compared to open surgery and has comparable oncologic outcomes. We observed unexpected multiple metastases after laparoscopic surgery for endometrial cancer, the recurrence risk of which has previously been estimated to be low. Herein, we present this case and discuss the optimal management of endometrial cancer. Presentation of case A 58-year-old woman complaining of atypical genital bleeding lasting for 5 months was diagnosed with stage IA endometrioid carcinoma grade 1. According to our primary strategy, she underwent a total laparoscopic hysterectomy and bilateral salpingo-oophorectomy. The post-operative diagnosis was consistent with the pre-operative diagnosis. Since the recurrence risk was post-operatively revised to an intermediate level, she was administered adjuvant chemotherapy. However, multiple metastases were observed 4 months post-operatively, and despite treatment for recurrent disease, she died 2 months later. The uterine specimen was re-examined after the diagnosis of recurrence, and the post-operative diagnosis was revised to endometrioid carcinoma grade 3, indicating that her recurrence risk might have been underestimated. Discussion The multiple metastases observed in this case, including those in the subcutaneous tissue, were presumably caused by pneumoperitoneum. Aspiration biopsy was used to confirm the histological diagnosis pre-operatively. However, dilation and curettage would have been preferable, considering aspiration biopsy provides limited diagnostic accuracy in some cases. Laparoscopic surgery is less invasive; however, it leads to a peculiar recurrence pattern, which is sometimes difficult to assess pre-operatively. Conclusion Physicians should carefully consider indications for laparoscopic surgery for malignant diseases.

Cholangiolocellular carcinoma(CoCC)was first reported by Steiner et al in 1959. CoCC resembles cholangiocellular carcinoma( CCC)grossly and presents a variety of imaging findings, which often makes preoperative diagnosis difficult. In Japan, CoCC is rare, accounting for only 0.56% of primary liver cancers. We report the results of laparoscopic liver resection (LLR)for CoCC at our institution. Among 845 liver resections(678 LLR and 167 open liver resections)performed at Kansai Rosai Hospital from 2010 to 2020, only 13 were CoCC. Eight patients underwent LLR except for 5 patients who required vascular reconstruction and lymph node dissection. Median age was 71 years (55-77), gender was male/female(7/1), stage was Ⅰ/Ⅱ/Ⅲ/ⅣA(3/3/1/1), liver function was Child-Pugh A/B/C(7/1/0), and liver damage A/B/C(6/2/0). The preoperative diagnosis was 1 CoCC, 3 CCC and 4 HCC. The operative procedure was 3 Hr 0, 3 Hr 1 and 2 Hr 2. The operative time was 342 minutes(168-488), the blood loss was 51.3 g(0-400), and the postoperative hospital stay was 14 days(5- 53). The 5-year disease-free survival rate was 83.3%, and the 5-year overall survival rate was 85.7%. Recurrence was seen in 1 patient. The 5-year survival rate after curative resection of CoCC has been reported to be 73-83%, compared with 28- 36% for CCC. LLR for CoCC at our institution showed good perioperative results. Long-term results were comparable to those reported for liver resection. LLR for CoCC was considered an appropriate technique with good perioperative and long- term results.

Introduction: Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) is often used to diagnose pancreatic tumors. In rare cases, preoperative EUS-FNA can be complicated by gastric wall implantation of pancreatic cancer. Case presentation: A 66-year-old woman with pancreatic tail cancer underwent evaluation by EUS-FNA, followed by distal pancreatectomy and splenectomy. Twelve months postoperatively, a submucosal tumor was detected at the posterior gastric wall, at the location where the EUS-FNA was performed, and a boring biopsy from the submucosal tumor showed an adenocarcinoma. Therefore, we performed partial gastrectomy. Immunostaining results of the resected specimen were identical to those of the resected pancreatic cancer. The patient was diagnosed as having gastric wall implantation of pancreatic cancer due to EUS-FNA. Conclusion: This case emphasizes the importance of monitoring the site of EUS-FNA for gastric wall implantation of pancreatic cancer, and boring biopsy is a useful diagnostic tool.

The patient was a 77-year-old woman. She underwent a partial gastrectomy at the age of 40, and a partial colectomy at the age of 75 following a diagnosis of a carcinoid. In November 2019, a 1.5 cm mass with a clear boundary was found in the pancreatic tail, which was strongly stained uniformly. And furthermore, multiple masses between 2 cm and 3 cm with a clear boundary was found inside liver segment S1 and S6 and S7 and S8 on CT, which was strongly stained at the edge in the early phase and was seen as a low density area in the late phase. At a result of image examination, it was diagnosed as a pancreatic tail neuroendocrine tumor and its multiple liver metastases. The distal pancreatectomy, posterior segmentectomy, and partial S1 lt and S8 liver resection were performed. With postoperative pathological diagnosis, the pancreatic tumor was accessory spleen, and liver tumor were epithelioid type GIST which were positive for CD34 and PDGFRA and negative for c- kit. The pathology specimen of colectomy was re-examined, and the diagnosis from the previous surgery was changed to GIST from a carcinoid. Epithelioid type GIST was associated with a PDGFRA gene mutation and was known to have many gastric origins. Based on the clinical course, it was diagnosed as recurrence of gastric GIST at 40 years after 30 years or more.

Most solitary fibrous tumors(SFT)occur in the thoracic cavity and reports on liver SFT are very rare. We encountered a case of SFT of the liver, and thus, decided to report it with a review of literature. A 70-year-old man was informed of a liver tumor by his previous doctor and referred to us for further examination and treatment. Contrast-enhanced CT revealed a 3.5 cm cyst in the S2/3 of the liver and a 3.2 cm tumor with an early staining within the cyst. Laparoscopic lateral segmentectomy was performed and a diagnosis of hepatic cystic adenocarcinoma was made. Macroscopically, the tumor was white and welldefined. Histopathological examination revealed round chromatin-enriched tumor cells proliferated with round fibrillar cells or intercalated structures consisting of round or short spindle-shaped cells. Immunohistochemistry yielded negative results for CAM5.2, HepPar1, CD31, CD99, SMA, and HMB45 but positive results for CD34, Factor Ⅷ, Bcl-2, and STAT6; therefore, the patient was further diagnosed with liver SFT. Although liver SFT is rare, it was considered a differential diagnosis when multiple bloody liver tumors were detected. In addition, since there were reports of recurrence, careful follow-up in future, was deemed necessary.

Ischemic fasciitis is a benign myofibroblastic lesion, occurring in the sacral region or proximal thigh of elderly or bedridden individuals. The pathogenesis of ischemic fasciitis is thought to be based on ischemic condition; however, it has never been demonstrated. In this study, we examined the expression of ischemia-associated proteins in ischemic fasciitis by immunohistochemical and genetic methods. Specifically, this study aimed to reveal the expression of HIF-1α, MDM2, CDK4, p16, and gene amplification of MDM2 gene. Seven cases of ischemic fasciitis from among the soft-tissue tumors registered at our institution were retrieved. Histopathological findings were as follows: poorly demarcated nodular masses, a proliferation of spindle-shaped fibroblastic or myofibroblastic cells with oval nuclei and eosinophilic or pale cytoplasm, zonal fibrinous deposition, pseudocystic degeneration, granulation-like proliferation of capillary vessels, ganglion-like cells, myxoid or hyalinized stroma, and chronic inflammatory infiltration. Immunohistochemically, the spindle cells were positive for HIF-1α (7/7 cases), MDM2 (4/7 cases), CDK4 (4/7 cases), p16 (7/7 cases), p53 (2/7 case), cyclin D1 (7/7 cases), and alpha-smooth muscle actin (6/7 cases). Neither MDM2 gene amplification nor USP6 gene split signal was detected in any case. Overexpression of the above proteins may be associated with the pathogenic mechanism of ischemic fasciitis. It is noted that the immunohistochemical positivity of MDM2, CDK4, and p16 do not necessarily indicate malignant neoplasm such as dedifferentiated liposarcoma.

Cerebral arterial air embolism is a rare and unexpected complication of advanced esophageal cancer. The entry of air to systemic circulation is an esophago-left atrial or pulmonary vein fistula formation. Herein, we report an autopsy case of a 64-year-old man. He was diagnosed esophageal cancer 2 years ago and underwent chemotherapy and concurrent chemoradiotherapy but the disease progressed, unfortunately. Then two metal stents were inserted into the middle thoracic esophagus as a palliation of dysphagia. After initiation of oral intake, he developed deterioration of consciousness. The cranial computed tomography showed cerebral arterial air emboli with multiple low-density areas. He failed to gain consciousness again and died one and half days later. In a literature survey, this autopsy case is the first presentation that confirmed histologically the close association between stent placement and formation of esophago-left atrial fistula. Due to the fatality of cerebral arterial air embolism, clinicians should keep in mind the possibility of this catastrophic complication after multimodality treatment of esophageal cancer.

A 70s man was admitted to another hospital with a complaint of abdominal pain, and was diagnosed with a gastrointestinal perforation based on the presence of free air in the abdominal cavity on computed tomography. The patient was transferred to our hospital in shock and underwent emergency surgery. Operative findings showed a perforation of the rectosigmoid colon and rectal cancer at the anal side of the perforation site. As his general condition was unstable due to septic shock, only the segments of the colon including the perforation site and rectal cancer were resected for source control. The abdominal wall was kept open, and intraperitoneal contamination was managed with an open management method using negative pressure wound therapy. Systemictreatments for septicshoc k were performed in the intensive care unit with a vasopressor and polymyxin-B hemoperfusion. The general condition became stable with intensive care by postoperative day 3. We performed additional lymph node dissection and one-step rectal sigmoidoscopic anastomosis on postoperative day 4. The pathological results confirmed pT4aN1M0, pStage Ⅲa disease. Although the course was complicated by postoperative pneumonia, the patient was discharged on postoperative day 28. We experienced a case in which curative resection with radical lymph node dissection and one-step anastomosis were performed after infection and source control with open abdomen management.

A 54-year-old woman with unresectable multiple liver-limited metastases of rectal cancer was treated with cisplatin-based transcatheter arterial chemoembolization(TACE). Before initiating TACE, we performed abdominoperineal resection for advanced rectal cancer, resection of the bilateral ovaries for metastasis, liver resection for metastasis, and oxaliplatin/irinote- can/anti-EGFR chemotherapy for the unresectable liver metastases. For the liver-limited metastases that did not respond to systemic chemotherapy, we successfully controlled the disease in 26 months with TACE every 4 or 5months. A combination of 50mg cisplatin and 4 mL lipiodol was injected into the liver through the left or middle hepatic artery with a microcatheter via the femoral artery. The hepatic arteries were mildly embolized with Embosphere. Immediately after TACE, non-contrastenhanced CT was performed to confirm the distribution of the cisplatin powder and embolization. Tumor response was assessed by enhanced CT 3 months after the treatment. We report a case of liver metastasis of colorectal cancer successfully controlled with cisplatin-based TACE over 2 years.

Appendiceal mucinous adenocarcinoma accompanied by cysts ruptures by surgical operation and leakage of mucus into the peritoneal cavity results in deterioration of prognosis.We report a case where the appendix mucinous adenocarcinoma was safely excised by laparoscopically preceding vascular treatment, lymph node dissection and intestinal dissection.The case was a woman in her forty-age suffering from the right lower quadrant and fever; no improvement was observed even when antibiotics were administered.A cystic lesion with a maximum diameter of 75mm was found on the right side of the pelvis with CT, and numerous lymph adenopathy was observed along the iliac artery.Preoperative diagnosis was diagnosed as appendiceal mucinous adenocarcinoma suspected and laparoscopic resection of the cecum was performed with the above procedure without breaking the cyst.Pathological diagnosis was findings of appendicular mucinous adenocarcinoma.She was discharged on the 7th postoperative day after surgery, 6 months after surgery without relapse survival.In order to resect a cystic tumor by laparoscopic surgery, it is considered to be useful to take care to prevent the forceps from touching the tumor, and perform a procedure that precedes vascular dissection and intestinal dissection.

A 49-year-old man visited our hospital with a chief complaint of abdominal pain that began 1 day before his visit.An approximately 30 cm tumor that was extensively in contact with the gastric wall in the abdominal cavity was detected on computed tomography(CT).An elevated lesion covered with normal mucosa on the posterior wall of the greater curvature was detected on upper endoscopy.He was diagnosed with a submucosal tumor of the stomach, and he underwent surgery. Surgical findings revealed an elastic soft tumor with a maximal dimension of 38 cm that projected from the posterior wall of the stomach beyond the gastric wall.No invasion and metastasis to other organs were detected.Partial gastrectomy was performed.On histopathological examination, proliferation of atypical round and spindle cells was found, and immunostaining was negative for KIT but positive for CD34.In the gene search, an Asp842Val mutation was detected in exon 18 of the PDGFRA gene.Currently, the patient has survived for 7 months after surgery without recurrence.

Granulocyte colony-stimulating factor (G-CSF)-producing nonhematopoietic malignancies have been reported in various organs, and most of them have been associated with poor clinical outcome. However, because of the rarity of reported cases, information regarding G-CSF-producing gynecological malignancies, especially uterine corpus cancer, is limited. We report a case of G-CSF-producing endometrial cancer, which exhibited a grave clinical outcome. Our case strongly indicates the aggressive nature of G-CSF-producing endometrial cancer.

Two vitamin D-responsive elements (VDRE-1 and VDRE-2) were recently identified in the 5'-upstream region of the rat 25-hydroxyvitamin D3 24-hydroxylase gene at -151/-137 and -259/-245, respectively. We studied the transcriptional regulation of this gene by vitamin D by means of mutational analysis. Introducing mutations into VDRE-1 and VDRE-2 in the native promoter -291/+9 reduced vitamin D-dependent chloramphenicol acetyltransferase activity by 86 and 41%, respectively. Mutation of the direct repeat -169/-155 located at 3 base pairs upstream of VDRE-1 also caused 50% decrease of chloramphenicol acetyltransferase activity. Connection of the element -169/-155 to VDRE-1 enhanced the vitamin D responsiveness of VDRE-1 5-fold through the heterologous beta-globin promoter. The fragment -291/-102 containing the two VDREs showed two shifted bands in the presence of the vitamin D receptor and retinoid X receptor in gel retardation analysis, and the appearance of the slower migrating band indicates that two sets of receptor complexes bind to this fragment simultaneously. These results demonstrate that VDRE-1 is a stronger mediator of vitamin D function than VDRE-2 due to the presence of the accessory element -169/-155 located adjacent to VDRE-1, although VDRE-2 exhibits a smaller dissociation constant for the vitamin D receptor-retinoid X receptor complex than VDRE-1.

Granulocyte colony-stimulating factor (G-CSF)-producing nonhematopoietic malignancies have been reported in various organs, and most of them have been associated with poor clinical outcome. However, because of the rarity of reported cases, information regarding G-CSF-producing gynecological malignancies, especially uterine corpus cancer, is limited. We report a case of G-CSF-producing endometrial cancer, which exhibited a grave clinical outcome. Our case strongly indicates the aggressive nature of G-CSF-producing endometrial cancer.

Cloverleaf skull syndrome was first reported in 1960 by Holtermuller & Wiedemann as Kleeblattschadel-Syndrome. The case in the present report was that of a male infant 26 days old at the time of death. Besides a trilobed skull and abnormalities of the extremities, he had low-set ears, stenosis of both external auditory canals, a beak-like nose, microphthalmia, retentio testis and congenital dermal sinus-like anomaly at the coccygeal region. A chromosome study revealed a normal male karyotype. The right temporal bone showed some anomalies through the external and middle ears. The bony portion of the external auditory canal was narrowed. The middle ear cavity was filled by mesenchymal tissue devoid of cell components. The incus was almost attached to the lateral tympanic wall. In addition, the stapes was thickened and bent anteriorly. The sensory and neutral elements of the inner ear were normal.