Diffuse Intestinal Ganglioneuromatosis Showing Multiple Large Bowel Ulcers in a Patient with Neurofibromatosis Type 1.

A 67-year-old Japanese man with neurofibromatosis type 1 underwent right hemicolectomy owing to abscess formation around the cecum. A pathological analysis revealed diffuse intestinal ganglioneuromatosis in the cecum and colon. Colonoscopy performed eight months after hemicolectomy revealed multiple ulcers throughout the colon and rectum. The colorectal ulcers failed to respond to conservative treatment and ultimately required surgical resection. Diffuse ganglioneuromatosis was observed again in the resected specimen. This report illustrates a rare manifestation of diffuse intestinal ganglioneuromatosis in a patient with neurofibromatosis type 1.

Intravascular lymphoma with a gastric submucosal tumor.

A 75-year-old man was admitted to our hospital for further examination of swollen lymph nodes and a possible gastric submucosal tumor. He had persistent fever and anorexia. Blood examination showed anemia, thrombocytopenia, and elevated lactate dehydrogenase and soluble interleukin 2 receptor levels. Swollen lymph nodes and splenomegaly were evident on computed tomography, and the submucosal tumor was revealed by esophagogastric endoscopy. Cervical lymph node biopsy and endoscopic biopsy were performed, which revealed a diagnosis of intravascular lymphoma. In Asian countries, patients with intravascular lymphoma often have hemophagocytic syndrome without lesions of the central nervous system or skin, which is called the Asian variant of intravascular lymphoma. In this case, the patient had no indicative lesions and had no evidence of the hemophagocytic syndrome. He also had lymph node swelling and a gastric submucosal tumor, which are rare in intravascular lymphoma. The patient was treated with chemotherapy (R-CHOP;rituximab-cyclophosphamide, doxorubicin, vincristine, and prednisolone), and complete response was demonstrated (based on the Response Evaluation Criteria for Solid Tumours [RECIST] guideline). In cases of possible intravascular lymphoma, gastrointestinal endoscopy and biopsy should be considered because they are a useful diagnostic strategy.

A case of a pancreatic tumor that was diagnosed as metastasis from lung cancer by endoscopic ultrasound-guided fine needle aspiration.

Metastatic tumors are rare in the pancreas, and some cases are difficult to distinguish from pancreatic cancer. However, distinguishing between them is very important to formulate a treatment plan. A case of a rare disease, called overlap cancer, involving metastatic tumors to the pancreas and right kidney from lung cancer, and duodenal papilla cancer, is described. Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) is useful for diagnosing metastatic pancreatic tumors, particularly in patients with multiple cancers.

Primary Duodenal Follicular Lymphoma Treated With Rituximab Monotherapy and Followed-up for 15 Years.

A 41-year-old woman was diagnosed with duodenal follicular lymphoma. She had no other lesions and was assigned to a "watch and wait" policy. Swelling of the inguinal lymph nodes appeared 45 months later, and rituximab monotherapy resulted in complete remission. However, follicular lymphoma recurred in the stomach, rectum and mesenteric and external iliac lymph nodes 81 months after the therapy. The patient received rituximab monotherapy again and has remained in complete remission in the fifteenth year after the initial diagnosis. This case suggests the usefulness of rituximab monotherapy in the long-term management of intestinal follicular lymphoma.

[A case of primary micropapillary carcinoma of the jejunum].

Micropapillary carcinoma (MPC) has been recently reported as a variant of invasive breast carcinoma. MPC is also known to be an aggressive variant of adenocarcinoma, and it is associated with poor prognosis and a high propensity for lymphovascular invasion and lymph node metastases. MPC of the breast, urinary bladder, and lung has been reported relatively frequently; however, there have been few reports on gastrointestinal MPC. Furthermore, MPC of the small bowel has not been reported yet. Here we report a case of MPC of the jejunum. A female septuagenarian was admitted because of anorexia and weight loss. We established a diagnosis of primary jejunal cancer and resected the duodenum and a part of the jejunum. Histologically, the tumor consisted of adenocarcinoma with moderate to poor differentiation. Among the carcinoma cells, approximately 10% formed small papillary neoplastic cell clusters surrounded by clear spaces, suggesting a diagnosis of MPC. We present the details of the case along with a review of relevant literature.

A solid pseudopapillary neoplasm without cysts that occurred in a patient diagnosed by endoscopic ultrasound-guided fine-needle aspiration: a case report.

INTRODUCTION: Solid pseudopapillary neoplasm of the pancreas is a rare neoplasm that has been reported to account for between 0.17% and 2.7% of all non-endocrine tumors of the pancreas. It is usually seen in young women. Because solid pseudopapillary neoplasms are rarely aggressive and have low-grade malignant potential and an excellent prognosis after complete resection, it is an ideal pancreatic tumor for treatment by minimally invasive surgery. Therefore, making an accurate pre-operative diagnosis is very important. CASE PRESENTATION: A 24-year-old Japanese man who had been found to have mild transaminase elevations at a medical check-up visited our hospital for further examination. Abdominal computed tomography showed a 40mm-diameter tumor in the pancreatic tail and mild fatty liver. He was admitted to our hospital for additional examination. The abdominal contrast-enhanced computed tomography scan taken at our institution showed an increasingly enhanced mass of 40mm diameter in the pancreatic tail. Ultrasonography showed a low-level echoic mass of 35mm diameter in the pancreatic tail. T1-weighted magnetic resonance imaging showed low signal intensity in the tail of the pancreas. T2-weighted magnetic resonance imaging showed high signal intensity there. Diffusion magnetic resonance imaging showed high signal intensity. An endoscopic ultrasound yielded the same results as the abdominal ultrasonogram. In addition, [18F]-fluorodeoxyglucose positron emission tomography/computed tomography showed abnormal accumulation (maximum standardized uptake value, 6.53). This finding raised our suspicion of a pancreatic malignant tumor. However, the patient could not be confidently diagnosed solely on the basis of imaging. Endoscopic ultrasound-guided fine-needle aspiration was performed, which led us to a diagnosis of solid pseudopapillary neoplasm. On that basis, we performed minimally invasive surgery (spleen-preserving laparoscopic distal pancreatectomy). CONCLUSION: Atypical solid pseudopapillary neoplasm without cysts should be considered when diagnosing pancreatic tumors. A definitive pre-operative diagnosis of solid pseudopapillary neoplasm made on the basis of endoscopic ultrasound-guided fine-needle aspiration can guide the surgical approach used.

Diagnostic accuracy of endoscopic biopsies for the diagnosis of gastrointestinal follicular lymphoma: a clinicopathologic study of 48 patients.

The purpose of this study was to reveal the diagnostic accuracy of initial pathologic assessment of biopsied samples in patients with gastrointestinal follicular lymphoma lesions. A total of 48 patients with follicular lymphoma (Lugano system stage I: n = 30; II1: n = 4; II2: n = 4; IV: n = 10) with gastrointestinal involvement who underwent endoscopic biopsy were enrolled and retrospectively reviewed. Nine (18.8%) of the 48 patients were not appropriately diagnosed as having follicular lymphoma at the initial biopsy. The initial pathological diagnosis included extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (n = 4), necrotic tissue (n = 2), duodenitis (n = 1), or suspected lymphoma of unspecified subtype (n = 2). The reasons for these inappropriate diagnoses were insufficient histopathologic analysis lacking CD10 and BCL2 staining (n = 7) and unsuitable biopsy samples taken from erosions or ulcers that contained scanty lymphoma cells or no lymphoid follicles (n = 2). In conclusion, incomplete histopathologic analysis and unsuitable biopsy samples are pitfalls in the diagnosis of gastrointestinal follicular lymphoma.

A case of follicular cholangitis mimicking hilar cholangiocarcinoma.

Follicular cholangitis is a sclerosing cholangitis with hilar biliary stricture that must be differentiated from both immunoglobulin G4-related sclerosing cholangitis and primary sclerosing cholangitis. This disorder is extremely rare and difficult to distinguish from hilar biliary cholangiocarcinoma. We report here a case of a Japanese female patient in her 60s with this disease. The patient visited a family doctor for itching and general fatigue. Blood examination showed elevated hepatobiliary enzyme levels. Various imaging studies showed dilation of the bilateral intrahepatic bile duct and wide stenosis from the proximal bile duct to the right and left hepatic duct. They also showed the enlargement of multiple lymph nodes in the hepatoduodenal ligament, periaorta, and mesocolon. Based on endoscopic retrograde cholangiopancreatography-directed brush cytology, we diagnosed this patient with hilar cholangiocarcinoma and performed left trisegmentectomy of the liver. The pathology results showed that the wall from the bilateral hepatic duct to the proximal bile duct had thickened irregularly with dense fibrosis and a marked formation of lymph follicles. The mucosal epithelia did not have malignant findings. The diagnosis was follicular cholangitis. This case indicates that follicular cholangitis should be considered as a differential diagnosis of hilar biliary stricture.

Distinct morphologic, phenotypic, and clinical-course characteristics of indolent peripheral T-cell lymphoma.

Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) consists of a heterogeneous group of lymphomas. Patients generally show an aggressive clinical course and very poor outcome. Although the 2008 World Health Organization classification of PTCL-NOS includes 3 variants, low-grade lymphoma is not included. Of 277 PTCL-NOS cases recorded in our consultation files, we examined the clinicopathologic characteristics of 10 patients with T-cell lymphomas composed of small-sized cells with slight nuclear atypia. Eight patients showed extranodal involvement (5 patients, spleen; 3 patients, thyroid), and 5 patients were at clinical stage I or II. Histologically, all samples presented diffuse infiltrate of small lymphoid cells, with few mitotic figures. Immunohistologically, all samples were positive for CD3, and CD20 was detected in 5 samples. All samples showed a low Ki-67 labeling index (mean, 1.05%), and 7 samples were positive for central memory T-cell markers. Clonal T-cell receptor γ chain and/or α-ß chain gene rearrangements were detected in all 10 patients. Five patients received chemotherapy, whereas for 3 patients, treatment consisted only of observation following surgical resection of the spleen or thyroid. Nine patients were alive at a median follow-up time of 19.5 months, whereas 1 patient died of an unrelated disease. The present study strongly indicates that T-cell lymphoma with small-sized lymphoma cells and a low Ki-67 labeling index is a distinct variant. Recognition of this novel lymphoma subtype, which should not be defined merely as PTCL-NOS, should be seriously considered.

Mucosa-associated lymphoid tissue lymphoma of the thyroid with abundant IgG4-positive plasma cells.

A case of thyroidal mucosa-associated lymphoid tissue (MALT) lymphoma mimicking IgG4-related disease is described. A 54-year-old male presented with acute swelling of the anterior neck. Anaplastic thyroid carcinoma (ATC), malignant lymphoma (ML), or acute deterioration of Hashimoto's thyroiditis were initially suspected, and an emergent tracheostomy was required for progressive airway obstruction; a simultaneous biopsy from the thyroid tissue was performed. Histopathologically, the lesion consisted of sclerotic fibrosis and diffuse and dense infiltration by small lymphoid cells without atypia and plasma cells, many of which were IgG4-positive. Blood examination also revealed high serum IgG4 levels. Riedel's thyroiditis was suspected. However, despite medical treatments, a firm swelling of the thyroid still remained. In an in situ hybridization study, IgG4-negative plasma cells showed immunoglobulin light-chain restriction (κ-monotype), and immunoglobulin heavy (IgH) chain gene monoclonal re-arrangement was detected by polymerase chain reaction. The lesion was finally diagnosed as MALT lymphoma. When IgG4-related disease is suspected, it is important to thoroughly exclude other possibilities.

Cervical lymph node extirpation for the diagnosis of malignant lymphoma.

PURPOSE: Lymph node enlargement in the neck is a common presentation of malignant lymphoma (ML) and requires tissue sampling for accurate diagnosis. Although delayed diagnosis may be critical for some patients, unnecessary biopsy should be avoided wherever possible. This study examined the process for determining the necessity to perform a biopsy and evaluated the value of an open biopsy as a diagnostic tool to enable definite subclassification of the disease. METHODS: The subjects included 20 patients with suspected ML who underwent cervical lymph node extirpation at Okayama Saiseikai general hospital between 2007 and 2010. The decision to perform a biopsy was made based on the results of sonographic evaluation, fine needle aspiration cytology (FNAC), and serum levels of lactate dehydrase (LDH) and soluble interleukin-2 receptor (sIL-2r). RESULTS: The diagnosis was ML in 15 patients (75%), Castleman's disease in 1 (5%), and benign lymphadenopathy in 4 (20%). CONCLUSIONS: A lymph node biopsy remains the gold standard for the diagnostic evaluation of ML. Sonographic evaluation combined with serum levels of LDH and sIL-2r is useful in determining the need for biopsy. Many of the cases of ML where it was difficult to determine whether a biopsy should be performed were relatively low grade and critical conditions could be avoided by close observation of the patient.

Pancreatic involvement in 11 cases of Von Hippel-Lindau disease.

BACKGROUND/AIMS: Von Hippel-Lindau disease is an autosomal dominant genetic disorder characterized by neoplasms developing in multiple organs. Although the pancreas is one of the most frequently involved organs, the frequency of pancreatic cysts, cystadenomas, neuroendocrine tumors and diabetes has not been sufficiently evaluated due to the low prevalence of this disease. In this paper, we review and retrospectively analyze 11 patients with von Hippel-Lindau disease. METHODOLOGY: Eleven patients (6 males, 5 females) who underwent CT or MRI scans at Okayama University Hospital between 2002 and 2009 were enrolled in this study. Their pancreatic CT scans, MRI scans, biochemical test results and clinical histories were retrospectively reviewed. RESULTS: All patients had one or more pancreatic involvements. Nine of the 11 patients had multiple pancreatic cysts, 2 had dilatation of the main pancreatic duct, 3 had a non-functioning pancreatic endocrine tumor (one patient required pancreatoduodenectomy due to the endocrine carcinoma) and 3 had diabetes mellitus. Pancreatic cystadenomas were not detected in this case series. CONCLUSIONS: The prevalence of pancreatic involvement was 100% in this study. Regular screening and scheduled follow-up for pancreatic lesions and diabetes should be performed on individuals predisposed to von Hippel-Lindau disease.

Neuroendocrine carcinoma of the larynx presenting as a primary unknown carcinoma.

OBJECTIVE: The case of an 80-year-old man showing a metastatic cervical small cell neuroendocrine carcinoma is presented. RESULTS: The primary site could not be found at first; it took 8-10 months to detect the primary lesion in the larynx. CONCLUSION: (18)F-deoxyglucose positron emission tomography (FDG-PET) was useful to find the submucosal lesion. Despite surgical treatments and chemotherapy, the patient survived for only 21 months.

Long-term effect of external beam radiotherapy of optic disc hemangioma in a patient with von Hippel-Lindau disease.

An 18-year-old woman with a 2-year history of hypertension and headache was diagnosed with noradrenalin-secreting bilateral adrenal pheochromocytomas with paragangliomas in the background of von Hippel-Lindau disease with family histories and a missense mutation, 712C to T (Arg167Trp) in the VHL gene. She had optic disc hemangioma in the left eye which gradually enlarged and caused serous retinal detachment on the macula in one year. Low-dose external beam radiation (20 Gy) was administered to the left eye using a lens-sparing single lateral technique. She underwent craniotomy for cerebellar hemangioblastoma at the age of 22 years and total pancreatectomy for multiple neuroendocrine tumors at the age of 24 years. In the 6-year follow-up period after the radiotherapy, the optic disc hemangioma gradually reduced in size and its activity remained low, allowing good central vision to be maintained. External beam radiation is recommended as a treatment option for the initial therapy for optic disc hemangioma.

Eosinophilic cholangitis with initial clinical features indistinguishable from IgG4-related cholangitis.

A 66-year-old woman presented with jaundice, elevated liver enzymes, peripheral eosinophilia and increased levels of immunoglobulin (Ig) G4. The image findings of the biliary tree revealed multifocal strictures mimicking primary sclerosing cholangitis. A biopsy specimen of the liver demonstrated an infiltration of inflammatory cells consisting of several eosinophils and IgG4-positive plasma cells. The liver enzymes and eosinophil count were normalized immediately after the administration of an oral steroid. Finally, the patient was diagnosed with eosinophilic cholangitis based on the clinical manifestations, although she had features of both eosinophilic cholangitis and IgG4-related cholangitis. This case indicates that the two entities may show similar manifestations and thus they should be discriminated carefully.

Vogt-Koyanagi-Harada syndrome in two patients with immunoglobulin A nephropathy.

We describe herein 2 patients who developed Vogt-Koyanagi-Harada syndrome in the course of renal biopsy-proven immunoglobulin A (IgA) nephropathy. A 61-year-old man with an 11-year history of IgA nephropathy and a 16-year history of thyroiditis, and a 56-year-old man with a 5-year history of IgA nephropathy developed Vogt-Koyanagi-Harada syndrome. At the time of the eye disease presentation, IgA nephropathy was stable without corticosteroids in both patients. Vogt-Koyanagi-Harada syndrome was successfully treated with intravenous administration of prednisolone tapered from 200 mg daily. Vogt-Koyanagi-Harada syndrome is associated with IgA nephropathy, suggesting a similar autoimmune mechanism for both diseases.

Sudden death from metastatic esophageal cancer to the ventricular septum.

A 67-year-old man was admitted to our hospital due to esophageal cancer. Cancer existed at the lower esophagus and subtotal esophagectomy and lymphadenectomy was performed. The postoperative course was uneventful. Pathological findings revealed moderately differentiated squamous cell carcinoma that metastasized to the abdominal lymph nodes which include the paraaortic lymph nodes. He complained of anorexia three months after the operation and was found to have multiple liver and mediastinal lymph node metastases. He was admitted for chemotherapy. Before starting chemotherapy, he suddenly died without any sign of hemorrhage or respiratory disorder. Autopsy showed metastatic lesions to the heart and mediastinal lymph nodes, liver, thoracic vertebrae, kidney, adrenal gland and heart. Metastatic nodules in the heart were on the ventricular septum where the conducting system exists. No direct invasion from the pericardium was observed. Blockade of the conducting system of the heart was considered to have caused the severe arrhythmia and sudden cardiac arrest.