Recklinghausen's disease and gastrointestinal stromal tumors

Gastro-intestinal stromal tumors associated with Recklinghausen's disease should be considered in the current concept of the stromal tumors with reference to recent advances in immuno-chemistry. In this setting, there is an high potential of maluignancy. For the treatment of these lesions, surgery is the main tool. Frequency of malignant digestive diseases associated with Recklinghausen disease should be kept in mind.     

A case of intrathoracic giant malignant peripheral nerve sheath tumor in neurofibromatosis type I (von Recklinghausen's disease).

The patient was a 32-year-old woman with neurofibromatosis I (von Recklinghausen's disease), with chief complaints of shortness of breath and back pain. CT and MRI revealed a giant mass occupying the right thoracic cavity almost completely. The mass compressed the mediastinal structure to the left and the liver downwards. She underwent surgery to alleviate respiratory and circulatory disorders caused by compression of the right lung and inferior vena cava due to the giant tumor. Intraoperatively, the tumor was found to have originated from the 5th intercostal nerve. The resected tumor was 20x17x15 cm in size and 2,300 g in weight. It was histologically diagnosed as a malignant peripheral nerve sheath tumor. Her postoperative course was uneventful. All indicators of respiratory function improved, and edema of the lower half of the body disappeared, accompanied by disappearance of shortness of breath. She was discharged 21 days after surgery. Seven months after surgery, however, a recurrent tumor was found in the right thoracic cavity. She died of rapid growth of recurrent tumor 3 months thereafter. This tumor often complicates neurofibromatosis I and has a high frequency of local recurrence and distant metastasis, resulting in poor prognosis. Neither an optimal extent of resection needed for complete resection of this tumor nor an optimal regimen of chemotherapy, radiotherapy, or other therapy for the tumor has yet been established. It is desirable to establish them in the near future.     

Multiple gastrointestinal stromal tumors and pheochromocytoma in a patient with von Recklinghausen's disease

INTRODUCTIONNeurofibromatosis type 1 is a genetic disease characterized by neoplastic and non neoplastic disorders involving tissues of neuroectodermal and mesenchymal origin. Herein, we present a case with von Recklinghausen's disease, right adrenal heochromocytoma and multiple gastrointestinal stromal tumors.PRESENTATION OF CASEA forty-eight year old male patient was admitted to our Emergency Department with melena. His physical examination revealed multiple neurofibromas all over the skin, kyphosis, multiple cafe au lait spots and Lisch nodules on the eye and, melena on digital rectal examination. Abdominal computerized tomography scan showed a mass on right adrenal gland and multiple soft tissue mass lesions between distal part of pancreas and small bowel. Adrenal mass was determined as a pheochromocytoma and small bowel lesions were verified as stromal tumors.DISCUSSIONIn patients with NF1, pheochromocytomas and GISTs are well known neoplasms seen with increased incidence than the general population.CONCLUSIONIn patients with NF1, any symptoms with other systems should be managed carefully for underlying malignity.     

Gastrointestinal neurofibroma in a patient with von Recklinghausen's disease

A 47-year-old woman underwent surgery because of a nonhealing gastric ulcer. An interesting pathologic finding followed.     

Malignant schwannoma of the cervical vagus nerve in a patient with neurofibromatosis (von Recklinghausen's disease)

A patient with malignant schwannoma arising from the cervical vagus nerve has been described. Treatment consisted of wide en bloc resection of the tumor and adjacent carotid artery. A subclavian-middle cerebral arterial bypass procedure, using a saphenous vein graft, was performed. A course of postoperative radiotherapy was administered. The patient remains without evidence of disease 11 months following therapy.     

Gastrointestinal stromal tumors

The Authors report two cases of GIST and underline cytogenetic, clinic and prognostic aspects of this disease; they describe as well new histo-cyto-genetic data that identify as origin tissue interstitial cells of Cajal, by immunohistochemical and genetic tests. They also consider new diagnostic and therapeutic options based on surgical treatment. Finally controversial prognostic problems are discussed.     

Gastrointestinal stromal tumors

Gastrointestinal stromal tumor (GIST) account for 1% of all gastrointestinal neoplasms and are the most common mesenchymal tumor of gastrointestinal tract. There are considered to originate fom the intestinal cell of Cajal, an intestinal pacemaker cell, characterized usually express the KIT protein on immunohistochemistry. The stomach (40-60%) and small intestine (30-40%) are the most common locations. Diagnosis of these tumors is difficult to establish, because symptoms are vague and traditional diagnostic tests are not specific. GISTs shows a wide variety of clinical behaviours ranging fom benign to frankly malignant, making the outcome totally unpredictable. Surgery is the standard treatment of local GIST while Imatinib (tyrosine kinasi inhibitor) is considered as the standard treatment of metastatic disease. Resistence to Imatinib is also becoming a major clinical problem but new tirosyne kinase inibitor are being studied to improve the treatment and survival. The present paper is a review of the salient features of epidemiology, pathophysiology, diagnosis, therapy and prognostic factors of GIST     

Gastrointestinal stromal tumors

Gastrointestinal stromal tumors (GIST) are rare neoplasias, but they represent the most common non-epithelial (mesenchymal) tumor of the digestive tract. GISTs originate in an intestinal pacemaker cell called the intestinal cell of Cajal and express the cell-surface receptor KIT (CD117). They were first defined as a separate category in 1983, and since then important data regarding their clinical behavior, histopathological particularities, immunohistopathology, molecular biology and therapeutic possibilities were reported. In this article we aim to present a review of the information concerning this subject available in the medical literature at the moment.     

Gastrointestinal stromal tumors

Gastrointestinal stromal tumors (GIST) are the most common sarcomas of the gastrointestinal tract. They affect all segments of the digestive tract. They develop from the interstitial cells of Cajal. Mutations in the Kit gene is present in 86% of cases and in PDGFR gene in 15% of cases. The marker CD 117 is present in 95% of cases. Surgery is the standard treatment in localized forms. The tyrosine kinase inhibitor, imatinib is standard in first-line metastatic gastrointestinal stromal tumors, as well as adjuvant treatment after surgery. Sunitinib is the standard in second line.     

Gastrointestinal stromal tumors

There are two main types of gastrointestinal connective tissue tumors: differentiated connective tissue tumors arising from smooth muscle tissue, schwanommas or fibroblastic tissue, and non-differentiated connective tissue tumors with no precise origin. Pathologically non-classifiable tumors comprise a group of real gastrointestinal stromal tumors. Stromal tumors are rare and generally develop in the stomach. Immunohistochemistry has been able to identify three entities: stromal tumorswith skenoid fibers, gastoinestinal autonomic nerve tumors, and intraabdominal desmoplastic small round-cell tumors. After resection, survival is almost 50% at 5 years and depends particulary on tumors size, the presence of synchronous metastases and mitosis count.