Shih-Ping Cheng

Neurofibromatosis with gastrointestinal stromal tumors: insights into the association.

The frequent association of stromal tumors with neurofobromatosis raises high suspicion of a possible correlation between the two entities. The aim of this study was to analyze clinicopathologic features of patients with concomitant neurofibromatosis and gastrointestinal stromal tumors and to discuss the molecular basis for their possible pathogenesis. Detailed information about clinical presentation, histology, immunostains, polymerase chain reaction amplification, and sequencing in three of our own cases was obtained. Stromal tumors presented with abdominal pain in one case and hemorrhage in another. One patient underwent surgery for malignant transformation of neurofibroma and stromal tumors were found incidentally. Stromal tumors were consistently positive for CD117, while the malignant peripheral sheath tumor was not. Mutation in the KIT juxtamembrane domain was found in one case. In this respect, some stromal tumors lack demonstrable KIT mutations but KIT remains activated. We reasoned that other mechanisms, like the Ras pathway involved in neurofibromatosis type 1, might play a role in KIT activation.

Large cell neuroendocrine carcinoma of the ampulla of Vater with glandular differentiation

Large cell neuroendocrine carcinoma of the ampulla of Vater is extremely rare. A 55 year old woman presented with an ampullary tumour causing pancreaticobiliary obstruction and a pancreaticoduodenectomy was performed. Microscopically, the tumour was diagnosed as a CD117 positive large cell neuroendocrine carcinoma with glandular differentiation. Four months later the patient developed a general recurrence. The metastatic tumours showed CD117 negativity and pure neuroendocrine features. The patient died of disease six months after diagnosis. It is postulated that the two components originated from a common multipotential stem cell. The clinical behaviour of ampullary large cell neuroendocrine carcinomas appears to be highly aggressive, with early metastases and a fatal outcome.

Choledochal cyst in adults: Aetiological considerations to intrahepatic involvement

Background:  Choledochal cysts are rare anomalies of the biliary tree and their presentation in adults is infrequent. The high incidence of associated anomalous pancreaticobiliary duct junction (APBDJ) has been well documented. However, the prevalence of APBDJ in different anatomic distribution of cysts has yet to be clarified.

Eggshell calcification in follicular thyroid carcinoma

Sir, A 63-year-old woman was admitted to our hospital with gradual weakness and numbness in her left leg. A diagnosis of essential hypertension had been made 5 years previously. On physical examination, a hard non-tender nodule was present in the right lobe of the thyroid. The remainder of the gland was palpable but not enlarged. There were no enlarged cervical lymph nodes. Cranial CT showed a focal osteolytic lesion involving frontal bone with epidural extension. Chest radiographwas normal except for a faint rim-like calcification in the right lower neck (Fig. 1). On thyroid function testing, the serum thyroid-stimulating hormone level (TSH) was 0.13 mIU/l (normal range 0.50– 5.15), the thyroxine (T4) level was 3.52 ng/dl (normal range 4.4–12.5), and the triiodothyronine (T3) level was 61.1 ng/dl (normal range 100–190). Tc99m pertechnetate thyroid scan demonstrated a cold area in the right lower thyroid corresponding to the clinically palpable nodule. Ultrasound-guided fine needle aspiration cytology revealed features of follicular neoplasm. Biopsy from the skull lesion proved to bemetastatic follicular carcinoma. A total thyroidectomy was performed. On gross examination, the cut surface of the resected specimen revealed a distinct yellow nodule, 2 cm in greatest diameter, located in the inferior pole of the right thyroid gland. A rim of calcification in the periphery was apparent (Fig. 2).Microscopically, the tumor was composed of well differentiated follicles with extension through the deceptive encapsulation. Scattered foci of calcification were identified in the fibrous stroma but no psammoma bodies were seen. The patient is currently undergoing I-131 therapy. Calcificationwithin the thyroid gland is not uncommon, and its presence has been reported in up to 21% of plain X-rays [1]. Three distinct patterns of intrathyroidal calcification have been described: eggshell calcification, dystrophic calcification, and fine stippled psammomatous calcification [2]. The most common is coarse dense nodular calcification, probably secondary to degenerative changes. It may occur in both benign and malignant thyroid lesions. Psammomatous calcification is presumably due to the presence of psammoma bodies, which are usually suggestive of papillary carcinoma. Eggshell calcification is infrequently seen and this type of calcification may be misinterpreted as calcified lymph nodes. Although eggshell variety is thought to be benign in nature, one case with similar calcification in association with mixed papillary and follicular thyroid carcinoma has been reported [3]. In addition, Taki and colleagues [4] recently showed that 43% of patients with eggshell calcification on ultrasonography were associated with papillary S.-P. Cheng . J.-J. Lee (*) . C.-L. Liu Department of Surgery, Mackay Memorial Hospital, 92, Sec 2, Chung-Shan North Road, Taipei, 10449, Taiwan e-mail: surg.mmh@gmail.com Tel.: +886-2-25433535 Fax: +886-2-27233897

Subcutaneous Rosai–Dorfman disease: is surgical excision justified?

Rosai–Dorfman disease in soft tissue without nodal disease has been recognized as a distinct clinicopathologic entity. It may represent a diagnostic challenge and the natural history and optimal treatment has not been well clarified. We investigated a patient in whom Rosai–Dorfman disease was confined to the subcutis of the abdominal wall and recurred after incomplete excision. Complete resolution was achieved by wide surgical excision with negative margins. Pathologic examination confirmed the diagnosis of extranodal Rosai–Dorfman disease. The patient is disease‐free after 1 year of follow‐up. Despite the possibility that spontaneous remission may occur, our results suggest that when anatomically feasible, complete excision can be a treatment option for persistence or recurrence of exclusively extranodal disease. Larger case series and longer follow‐up are needed to assess the long‐term efficacy in these patients.

Spontaneous rupture of recurrent gastrointestinal stromal tumor associated with neurofibromatosis type 1

The incidence of gastrointestinal stromal tumor (GIST) among neurofibromatosis type 1 (NF-1) patients is approximately 3.9-25%, and this relationship is generally considered to be non-coincidental. We report a patient with NF-1 who underwent laparotomy 3 times due to recurrent intra-abdominal tumor rupture with internal bleeding in the space of 13 years. The pathologic diagnoses were schwannoma, malignant peripheral nerve sheath tumor and GIST. Because of the similar histologic features of these tumors, we considered them to be of the same nature. Immunohistochemical staining can help in the differential diagnosis. We suggest that NF-1 patients with gastrointestinal symptoms receive further survey to rule out GISTs.

Mixed Tuberculosis and Edwardsiella tarda Infection of the Abdomen: A Case Report and Literature Review

Edwardsiella tarda is an unusual pathogen rarely found in humans. A 54-year-old man who presented with diffuse abdominal pain, fever, chills, and hypotension received emergency operation. Cultures from the retroperitoneal abscess grew both E. tarda and Escherischia coli. Polymerase chain reaction testing of biopsy material from the granulomatous nodules of small bowel serosa was positive for Mycobacterium tuberculosis. This is a rare case of mixed infection of E. tarda and tuberculosis in a patient with an absence of predisposing factors.

Gastrointestinal: Mesenteric panniculitis

There is no consensus on nomenclature for rare inflammatory and fibrotic disorders that can affect the mesentery and retroperitoneum. Some authors have recognized three basic disorders; retractile mesenteritis, mesenteric panniculitis and retroperitoneal fibrosis. However, it is uncertain whether these are separate entities or different manifestations of a similar pathological process. In addition, the medical literature contains a number of alternative names including mesenteric lipodystrophy, sclerosing lipogranulomatosis, liposclerosis of the mesentery and multifocal subperitoneal sclerosis. The etiology of these disorders is unknown but hypotheses have included traumatic, hypoxic, infectious, neoplastic and autoimmune mechanisms. For retroperitoneal fibrosis, there are established associations with drugs such as methysergide and ergotamine. Patients with mesenteric panniculitis are often elderly men who present with abdominal pain, an abdominal mass, a low-grade fever or symptoms of a partial bowel obstruction. The features on a computed tomography (CT) scan are highly variable but often include a mass, sometimes with a pseudocapsule. The mass can vary in density because of fat necrosis and may contain areas of calcification. The disorder appears to improve spontaneously in some patients while others may improve with corticosteroids, immunosuppressive drugs or progesterone. Surgery is often necessary for those patients with a bowel obstruction. The patient illustrated below was a 38-year-old man who was investigated because of vague abdominal pain, abdominal distension and early satiety. There was a large, firm mass in the right abdomen. Various blood tests were within the reference range including serum levels of CEA and CA19-9. A CT scan of the abdomen showed a large lobulated mass with a diameter of approximately 25 cm (Fig. 1). At laparotomy, there was a large, partly demarcated mass extending into the root of the superior mesenteric artery. The mass was yellow-gray in color with a gritty consistency that suggested both fibrosis and fat necrosis (Fig. 2). At histology, the mesenteric fat was diffusely infiltrated with bands of lipid-filled macrophages and focal collections of lymphocytes. In addition, there were cystic areas that were lined by foamy macrophages and filled with fat debris. The pseudocapsule was composed of dense fibrotic tissue with foci of calcification. There was no evidence of vasculitis or neoplasia. The findings were consistent with mesenteric panniculitis.

Hepatobiliary and pancreatic: Inferior vena caval obstruction with hepatocellular cancer

A 48-year-old man with chronic hepatitis B infection was admitted with dyspnea, orthopnea, abdominal distension and marked swelling of both legs. Five months previously, he had been treated with a central hepatectomy (Couinaud’s segments 4, 5 and 8) for a trabecular hepatocellular carcinoma that showed moderate differentiation and vascular invasion. Physical examination revealed engorged jugular veins, decreased breath sounds in the right lung base, a mid-systolic murmur, ascites and marked edema involving both legs. He was not clinically jaundiced. Liver function tests were mildly abnormal but the serum level of alpha fetoprotein was within the reference range. A chest X-ray showed a normal cardiac silhouette with a right pleural effusion. Transthoracic echocardiography revealed a mass, 6 × 5 cm, within the right atrium that was protruding from the inferior vena cava. A computed tomography (CT) scan of the upper abdomen (Fig. 1) showed an intrahepatic recurrence and complete thrombosis of the inferior vena cava (arrow). A CT scan of the chest (Fig. 2) showed that the large thrombus had extended contiguously into the right atrium (arrow). He also had a large right pleural effusion. The patient received palliative treatment and subsequently died because of cardiac failure. Hepatocellular carcinoma has a tendency to invade vascular structures. However, spread through the inferior vena cava into the cardiac cavities is rare. Clinical manifestations are variable but include dyspnea, syncope and heart failure. In our patient, the syndrome of inferior vena caval obstruction was characterized by the rapid onset of ascites and edema involving the lower abdomen and legs. Although there are case reports of successful surgical resection, most patients with inferior vena caval obstruction have a poor prognosis. The major causes of death are pulmonary embolism and acute obstruction of the tricuspid valve.