Limited dorsal myeloschisis without extradural stalk continuity to coexisting congenital dermal sinus.

Limited dorsal myeloschisis (LDM) is characterized by a fibroneural tethering stalk linking the skin lesion to the underlying spinal cord. LDM without an extradural stalk is rare. A full-term boy was noted at birth to have a dimple in the upper back (dorsal skin of the lower thoracic region). Computed tomographic scan showed spina bifida at the T9-12 vertebral level and osteochondral tissue at the T10 level. Magnetic resonance imaging (MRI) demonstrated a tiny dorsal lipoma at the T8 vertebral level, but the intradural tethering tract was not apparent. At 18 days of age, the congenital dermal sinus (CDS) tract started from the dimple and terminated at the osteochondral tissue, without continuity of the dura mater, and the osteochondral tissues were resected. At age 2 years 8 months, he developed spastic paresis of the right foot. On MRI, the tethering tract from the dorsal lipoma became apparent. During the second surgery at age 2 years 11 months, the intradural stalk started from the dorsal lipoma and joined the inner surface of the dura mater was untethering from the cord. Postoperatively, right spastic paresis was improved. Histological examination of the intradural stalk revealed the distribution of S100-immunopositive peripheral nerve fibers, which is one of the histopathological hallmarks of LDM. We speculated that the extradural stalk with coexisting CDS originally linked from the skin lesion subsequently regressed and was replaced by fibroadipose tissue with osteochondral tissue migration. Intradural exploration should always be seriously considered in these disorders of persisting neurocutaneous connection.

[A Case Report of Rectal MiNEN Surgical Resection].

A 56-year-old man with diarrhea and bloody stools was found to have a type 2 tumor in the rectosigmoid region. A biopsy revealed well-differentiated tubular adenocarcinoma(tub1), and laparoscopic high anterior resection was performed. The final diagnosis was MiNEN(NEC:adenocarcinoma=6:4), RS, type 2, Ly0, V0, pT3(SS), pN0, M0, and pStage Ⅱa. He has been followed up without postoperative adjuvant chemotherapy and has been alive without recurrence for 1 year and 4 months after surgery. MiNEN is a rare disease, and most of them are mixed with NEC components or high- grade NET G3 and have a poor prognosis. We present an important case of rectal MiNEN.

[Surgical Resection of Gastric MANEC-Two Case Reports].

Case 1 was a 78-year-old woman with a tumor in the stomach on preoperative CT of an inguinal hernia. The patient was diagnosed with advanced gastric cancer at posterior wall of fornix and underwent total gastrectomy and splenectomy. Postoperative pathological diagnosis was gastric mixed adenoneuroendocrine carcinoma(MANEC), T1b2, N1, M0, StageⅠB. She has been alive without recurrence for 3 years without postoperative adjuvant chemotherapy. Case 2 was a 78-year-old man who was admitted to the hospital with acute pancreatitis and had a thickened wall of the lesser curvature of the gastric antrum on CT. He was diagnosed with advanced gastric cancer and underwent distal gastrectomy and D2 dissection. Postoperative pathological diagnosis was gastric MANEC, T1b2, N1, M0, Stage ⅠB. Oral administration of S-1 was started as postoperative adjuvant chemotherapy, but he was very tired and ended in 1 course at his request. Computed tomography 6 months after the operation revealed multiple liver metastases, and he was transferred to best supportive care at his request. He died 1 year after surgery. We experienced 2 valuable cases of gastric MANEC.

Malignant Lymphoma of the Ovary: A Diagnostic Pitfall of Intraoperative Consultation.

Primary ovarian lymphomas are rare, but can potentially evoke diagnostic problems. We present a case of ovarian lymphoma, in which an ambiguous intraoperative pathologic report led to overtreatment (unnecessary surgery). A 73-yr-old woman with fatigue and low-grade fever was diagnosed as having a left ovarian tumor by imaging modalities. Exploratory laparotomy was carried out to confirm the diagnosis. The frozen tissue sections of the ovarian tumor showed condensed proliferation of atypical round cells accompanied with a few small lymphocytes. The pathologists could not determine whether this tumor was a lymphoma or another malignancy (eg, dysgerminoma). Hence, they reported it to gynecologists who operated as simply a malignant tumor in order to evade misdiagnosis. On the basis of the inconclusive pathologic report, the gynecologists decided to change the planned laparotomy to total hysterectomy with bilateral salpingo-oophorectomy and pelvic lymph node dissection. A postoperative paraffin section-based pathologic diagnosis was diffuse large B-cell lymphoma of the ovary, which basically does not require surgical treatments. Subsequently, chemotherapy for B-cell lymphoma was initiated, and no lymphoma recurrence has been reported to date. A more robust preoperative discussion between the gynecologists and the pathologists might have avoided the overtreatment.

Gastric-type endocervical adenocarcinoma with uterine corpus involvement mimicking primary endometrial carcinoma.

Differentiation of endocervical adenocarcinomas involving the uterine corpus from primary endometrial (EM) carcinomas involving the cervix is, not only clinically but also pathologically, often difficult. We report a case of gastric-type endocervical adenocarcinoma involving the corpus that could be correctly diagnosed because it was a unique endocervical adenocarcinoma subtype. A 69-year-old woman who presented with abnormal genital bleeding was diagnosed as having a uterine adenocarcinoma on pathological examination of EM biopsy. Preoperative imaging findings and a surgical specimen showed that the tumor was mainly located in the corpus and involved the cervix. We considered at first that the tumor was an EM adenocarcinoma invading into the cervix. However, results of an immunohistochemical examination indicated that it was a gastric-type mucinous adenocarcinoma derived from the endocervix. Our final pathological diagnosis was a gastric-type endocervical adenocarcinoma spreading to the uterine corpus.

[A Case Report of Resectable Leiomyosarcoma of the Duodenum Origin Invading to the Inferior Vena Cava].

A 40's woman had a complaint of abdominal and back pain. Enhanced CT visualized a large retroperitoneal tumor and huge multiple myomas of the uterus. The tumor was 10cm in diameter and located in the anterior of the inferior vena cava, and progressed from the posterior of the duodenum to the abdominal aortic bifurcation. Diffusion-weighted MR image showed the tumor with high signal intensity. Upper gastrointestinal endoscopy revealed a type 2 tumor at the anal side of the Vater. The patient was performed curativly abdominal total hysterectomy and pancreaticoduodenectomy with inferior vena cava resection. Immunohistochemical examination showed that the tumor cells were negative for CD34 and c-kit, and positive for desmin and a-SMA. The tumor was histopathologically diagnosed as leiomyosarcoma originating from the duodenum.

[A Case of Double Lung and Gastric Cancer Involving Para-Aortic Lymph Node Metastasis with Difficult Preoperative Diagnosis].

A man in his 60s was admitted to our hospital with anemia. An endoscopic examination revealed advanced gastric cancer. CT revealed peri-gastric and para-aortic lymphadenopathy, and a nodular shadow(20mm)in the lower lobe of the right lung. PET-CT revealed abnormal uptake in the para-aortic lymph node and stomach wall and the nodular shadow in the right lung. A bronchoscopy revealed pulmonary adenocarcinoma. From the above, he was diagnosed with gastric cancer(cT4a, cN2, cM1, cStage IV )and lung cancer(cT2a, cN0, cM0, cStage I B). Because of gastric bleeding, we decided to operate on the gastric cancer before the lung cancer. First, total gastrectomy, splenectomy, and cholecystectomy were performed and then dissection of lymph node No. 16was performed. Histopathological examination indicated that lymph node No. 16was common to lung cancer, so the final diagnosis was gastric cancer(pT4a, pN0, cM0, fStage II A)and lung cancer(cT2a, cN0, pM1, fStage IV ). In this case, lymphadenectomy of No. 16in the first and pathological diagnosis during surgery could help us avoid splenectomy and cholecystectomy, and could reduce invasion.

Use of endoscopic balloon dilation for benign esophageal stenosis in children: our 11 year experience.

Endoscopic balloon dilation (EBD) is an established therapy for esophageal stenosis. To assess its usefulness in children, we reviewed 11 years of pediatric cases of EBD in our hospital. Over the last 11 years, EBD was performed on 14 pediatric patients (10 boys and four girls; 7 months-11 years) at our hospital. All EBD sessions were performed under general anesthesia and fluoroscopic monitoring. The sessions were repeated every week or alternate weeks until resolution of dysphagia or development of smooth endoscope passage. Stenosis was resolved in 14 of 14 patients (100%). None of the patients (0%) showed recurrence of stenosis. As for postoperative complications, mediastinitis occurred only in one patient (7.1%). The median number of session repeats for an individual patient was three (range 1-10). EBD is a safe and effective therapeutic modality for esophageal stenosis in children.

TERT promoter mutations and chromosome 8p loss are characteristic of nonalcoholic fatty liver disease-related hepatocellular carcinoma.

The number of patients with nonalcoholic fatty liver disease (NAFLD)-related hepatocellular carcinoma (HCC) is increasing. To understand the molecular features of the tumor phenotype, we aimed to clarify the overall landscape of genetic aberrations accumulated in NAFLD-related HCC. Of 247 HCC patients who underwent hepatectomy during 2010 to 2014 at a single center in Japan, 10 were diagnosed with NAFLD-HCC based on strict clinical and pathologic criteria. We analyzed the genetic aberrations of 11 NAFLD-HCC tumor samples from these 10 patients by whole-exome sequencing, targeted sequencing of the selected genes, and copy number variation studies. Whole-exome sequencing revealed a mean somatic mutation rate of 1.86 per megabase, and 12 genes were recurrently mutated in NAFLD-HCCs. Targeted sequencing of the 26 selected genes (12 recurrently mutated genes in whole-exome sequencing and 14 representative HCC-associated genes) revealed that TERT promoter mutations occurred in 9 of 11 HCCs (82%), followed by CTNNB1 (45%) and TP53 (36%) mutations. Array-based copy number variation studies identified recurrent gains at 1q and 8q, and recurrent losses at 1p, 4q, 6q, 8p, 13q, 16p, 17p, and 18q. Notably, chromosome 8p loss occurred in all of the NAFLD-HCC samples. The current study provided the characteristics of genetic aberrations in NAFLD-HCC and suggested that TERT promoter mutations and chromosome 8p loss mainly contribute to NAFLD-related liver carcinogenesis.

[A Case of Mixed Adenoneuroendocrine Carcinoma(MANEC)of the Duodenum].

A 79-year-old man was admitted to our hospital because of a positive fecal occult blood test. Gastrointestinal endoscopy revealed a tumor in the duodenal bulb. Histologically, biopsy specimens indicated adenocarcinoma. The patient underwent distal gastrectomy. Histopathological examination showed a neuroendocrine carcinoma with an adenocarcinoma. According to the 2010WHO Classification of Tumours of the Digestive System, this case was diagnosed as mixed adenoneuroendocrine carcinoma(MANEC). There was no metastatic lesion in the resected lymph node. The patient has been followed up for 2 years without evidence of recurrence. We report a rare case of MANEC in the duodenum.

[A Case of Synchronous Multi-Centric Invasive Ductal Carcinomas of the Pancreas].

A 69-year-old man with left upper abdominal pain visited our hospital. Abdominal CT revealed a hypovascular mass(66× 57mm)in the pancreatic tail. MRI revealed hemorrhage and cysts in the caudal lesion of the tumor. The tumor involved the posterior wallof the stomach. Based on a diagnosis of pancreatic tailcancer with gastric posterior wallinvasion, distalpancreatectomy and partialgastrectomy were performed. Histopathologicalexamination indicated 2 adjacent tumors through a capsule in the pancreas tail. These tumors were diagnosed as synchronous invasive ductal carcinomas of the pancreas, which were anaplastic and papillary carcinomas. We report a rare case of synchronous multi-centric invasive ductalcarcinomas of the pancreas.

[A Case of Mucinous Adenocarcinoma of the Descending Colon with Extramural Progression].

A 63-year-old man was admitted to our hospital with a cough. Based on imaging studies, the patient was diagnosed with locally advanced descending colon cancer with extensive infiltration into peripheral organs by extramural progression. There was no distant metastasis. Therefore, he received left hemicolectomy with splenectomy, partial gastrectomy, and partial diaphragm resection. Histopathological examination showed a mucinous adenocarcinoma, pT4b, pN1, cM0, fStage III A. We report a rare case of extramural progression colon cancer with invasion of various organs and review 12 previous case reports.

Usefulness of Cytokeratin-18M65 in Diagnosing Non-Alcoholic Steatohepatitis in Japanese Population.

OBJECTIVE: The aim of this study was to evaluate cytokeratin-18M65 (CK-18M65) for distinguishing between simple steatosis (SS) and non-alcoholic steatohepatitis (NASH) against healthy individuals (HIs) in Japanese population. METHODS: The serum from 24 HIs, 21 patients with SS and 20 patients with NASH were examined. Serum CK-18M65 was measured by enzyme-linked immunosorbent assay. RESULTS: Aspartate aminotransferase was significantly different between NASH patients and HIs with p < 0.0001 (SS patients and HIs: p < 0.0001), as was alanine aminotransferase between NASH patients and HIs with p < 0.0001 (SS patients and HIs: p < 0.0001). Serum CK-18M65 increased in a stepwise fashion in HIs and also in SS and NASH patients. Multivariate logistic regression analysis revealed that NASH could be diagnosed with the use of CK-18M65 alone (p = 0.0285, OR 1.0038, 95% CI 1.0004-1.0073). At the optimal cut-off level of 548 U/l, CK-18M65 had an AUC value of 0.7369, 60.00% sensitivity and 85.70% specificity. In patients with NASH, no significant difference was observed between low fibrosis (Stage 0-1, 794.30 ± 454.41, n = 10) and high fibrosis (Stage 2-3, 809.70 ± 641.43, n = 10; p = 0.5967) and between slight steatosis (<33%, 512.89 ± 229.65, n = 9) and moderate steatosis (≥33%, 655.13 ± 480.78, n = 32) in patients with non-alcoholic fatty liver disease (NAFLD; p = 0.7647) with the use of CK-18M65. CONCLUSION: Serum CK-18M65 distinguished NASH from SS, but could not assess the severity of steatosis in NAFLD patients or the grade of fibrosis in NASH patients in Japanese population.

A case of pulmonary mucoepidermoid carcinoma responding to carboplatin and paclitaxel.

A 59-year-old man was admitted to our hospital with dyspnea and cough. A large polypoid tumor was observed in the lower trachea and bronchoscopic polypectomy was performed using a snare to relieve symptoms. The tumor was diagnosed as a high grade mucoepidermoid carcinoma mainly by the histology of piecemeal specimens obtained by bronchoscopic resection. The primary lesion involved the trachea and the main bronchus, and there were multiple metastases in the lung. The patient was treated with the combination of carboplatin and paclitaxel. After four cycles of chemotherapy, the tumors were significantly reduced. He remains well without evidence of tumor progression for 25 months. This case suggests that the combination chemotherapy of carboplatin and paclitaxel can be an option for treatment of pulmonary mucoepidermoid carcinoma.

[A case of multiple skin metastases from cancer of the descending colon responding to FOLFIRI/cetuximab therapy].

A 64-year-old woman presented to our hospital with subcutaneous tumors in the right thoracic region. After undergoing a thorough medical evaluation, she was diagnosed with multiple skin metastases arising from cancer of the descending colon. Surgical resection of the primary lesion was performed and FOLFIRI (5-fluorouracil, levofolinate calcium, irinotecan) and cetuximab chemotherapy for the metastases was initiated. The patient subsequently entered remission and did not experience any major side effects. This case report details an effective therapy for colon cancer with multiple skin metastases and presents a discussion of the expression profiles of epidermal growth factor receptor in both the primary and metastatic lesions.

Liver biopsy in the post-hepatitis C virus era in Japan.

In Japan, liver biopsies were previously crucial in evaluating the severity of hepatitis caused by the hepatitis C virus (HCV) and diagnosing HCV-related hepatocellular carcinoma (HCC). However, due to the development of effective antiviral treatments and advanced imaging, the necessity for biopsies has significantly decreased. This change has resulted in fewer chances for diagnosing liver disease, causing many general pathologists to feel less confident in making liver biopsy diagnoses. This article provides a comprehensive overview of the challenges and potential solutions related to liver biopsies in Japan. First, it highlights the importance of considering steatotic liver diseases as independent conditions that can coexist with other liver diseases due to their increasing prevalence. Second, it emphasizes the need to avoid hasty assumptions of HCC in nodular lesions, because clinically diagnosable HCCs are not targets for biopsy. Third, the importance of diagnosing hepatic immune-related adverse events caused by immune checkpoint inhibitors is increasing due to the anticipated widespread use of these drugs. In conclusion, pathologists should be attuned to the changing landscape of liver diseases and approach liver biopsies with care and attention to detail.

Adenocarcinoma arising from vaginal stump: unusual vaginal carcinogenesis 7 years after hysterectomy due to cervical intraepithelial neoplasia.

Primary vaginal adenocarcinomas are one of the rarest malignant neoplasms, which develop in the female genital tract. Because of the extremely low incidence, their clinical and pathologic characteristics are still obscure. Recently, we experienced a case of vaginal adenocarcinoma that appeared 7 yr after hysterectomy because of cervical intraepithelial neoplasia. The patient, a 65-yr-old obese woman, was diagnosed as having adenocarcinoma in the vaginal stump and was treated by simple tumor excision and radiation. Immunohistochemical and molecular biologic examinations indicated a potential association with human papilloma virus infection in the development of the vaginal adenocarcinoma. There has been no evidence of recurrence for 3 yr after the operation.

[Long-term survival of a patient with extrahepatic cholangiocarcinoma treated with adjuvant radiotherapy for positive ductal margins after surgical resection].

A 57-year-old man with abdominal discomfort visited our hospital. Abdominal computed tomography (CT) revealed no tumorous lesions. Endoscopic retrograde cholangiography (ERC) revealed a tumorous lesion in the middle bile duct. Peroral cholangioscopy-assisted biopsy was performed, and the lesion was diagnosed as a papillary adenocarcinoma. Extra bile duct resection and regional lymph node dissection were performed; however, residual carcinoma in situ was detected at the ductal margins by intraoperative frozen section analysis. Therefore, external radiation therapy at a dose 50.4 Gy/28 Fr was administered after the operation. No complication due to radiotherapy occurred. The patient remains alive and recurrence -free for more than 7 years after the operation. We report the long-term disease-free survival of a patient with extrahepatic cholangiocarcinoma who was treated with external radiation therapy for positive ductal margins after surgical resection.

Change in Main Histological Type of Invasive Breast Cancer From Ductal to Lobular Carcinoma by Neoadjuvant Chemotherapy.

We present a case study of breast cancer initially diagnosed as invasive ductal carcinoma (IDC), which subsequently substituted into invasive lobular carcinoma (ILC) following neoadjuvant chemotherapy (NAC). A 61-year-old woman presented with a palpable breast lump, and histological examination through core needle biopsy (CNB) confirmed the presence of IDC. After a 6-month course of NAC, the patient achieved a clinically complete response (cCR) and underwent mastectomy. The surgical specimen showed no detectable tumor upon palpation, but microscopic analysis revealed a highly infiltrative growth of poorly-cohesive small atypical cells in the original tumor area. Immunohistochemical staining demonstrated that the tumor cells were negative for E-cadherin, leading to a diagnosis of ILC. To address the histological discrepancy before and after NAC, we re-evaluated the initial CNB using E-cadherin immunohistochemistry. While most tumor cells were E-cadherin positive, a small area displaying scirrhous subtype-like morphology exhibited E-cadherin negativity. Consequently, we revised the diagnosis to mixed IDC-ILC. The differential chemosensitivity between IDC and ILC may provide insight into this phenomenon.