1/49. Chromosome instability in lymphocytes from two patients affected by three sequential primary cancers: the role of fragile sites.The chromosomal aberration rate and the expression of fragile sites induced by aphidicolin were evaluated in metaphase chromosomes obtained from peripheral blood lymphocytes of two untreated patients with multiple primary cancers. Spontaneous aberrations of chromosome number and structure and chromosome fragility were compared with controls with the use of the same methods. Chromosomal aberration rates and expression frequencies of fragile sites were significantly higher in the patients than in normal control subjects. In the patients, all but one structural chromosome aberration involved at least one fragile site. Our results suggest that fragile sites may be unstable regions of the human genome, which might play an important role in the genetic instability associated with cancer predisposition.- - - - - - - - - - ranking = 1keywords = peripheral (Clic here for more details about this article) |
2/49. High mitotic index associated with poor prognosis in gastrointestinal autonomic nerve tumour.AIMS: Three gastrointestinal autonomic nerve tumours (GANT) were characterized by immunohistochemistry and flow cytometry. Two of the three cases occurred in the small intestine, while the third was found in the stomach. Besides the immunohistochemical and ultrastructural description, the aim of this study was to examine the relation between the known and accepted predictive factors (ploidy data, the S-phase fraction, the mitotic and MIB-1 index and the size of the tumour) and the survival of the patients. methods AND RESULTS: The immune profile showed that 3/3 cases were vimentin and NSE, 2/3 were synaptophysin and PGP 9.5 positive, while 1/3 also showed S100 positivity. Ultrastructurally, all the cases had dense core granules, one of them contained skenoid fibres. The flow cytometry revealed diploid dna in all cases, however, significant differences could be seen in the proliferative activity of the individual neoplasms. CONCLUSIONS: In spite of the published data of gastrointestinal stromal tumours (GIST) generally, neither the MIB-1 index and the ploidy data nor the size of the primary tumour helped to predict the clinical progression of the examined GANTs. However, the high proliferative activity (57 mitoses/10 HPF) and the elevated S-phase fraction (24%) was associated with advanced, metastatic and recurring disease in case 3. On the basis of these three cases, high mitotic activity is the most reliable factor in predicting aggressive clinical behaviour.- - - - - - - - - - ranking = 2.2523070855048keywords = nerve (Clic here for more details about this article) |
3/49. GANT-like gastrointestinal pacemaker cell tumours with oncocytic features.We describe two cases of gastrointestinal stromal tumours with prominent oncocytic features. Both had features consistent with differentiation towards the interstitial cells of cajal (CC). They were composed of nests and bundles of cells with abundant, deeply granular, eosinophilic cytoplasm. Immunohistochemical investigations revealed positivity with c-kit, vimentin and CD34 antibodies in both neoplasms. Ultrastructurally the neoplastic cells showed characteristic features of CC; they had synapse-like structures and dense core cytoplasmic granules. Oncocytic features were confirmed by immunohistochemistry using anti-mitochondrion antibody in both cases and by electron microscopy in one case (case 1). Although the CC are frequently described as mitochondrion-rich cells, oncocytic changes have not previously been reported as a feature of gastrointestinal autonomic nerve tumour (GANT)-like stromal tumours.- - - - - - - - - - ranking = 0.45046141710097keywords = nerve (Clic here for more details about this article) |
4/49. Complete remission of generalized relapsed extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue type of the gastrointestinal tract after high-dose chemotherapy and autologous peripheral stem cell transplantation.Due to their homing properties, extranodal marginal zone B-cell lymphoma (MZBL) of mucosa-associated lymphoid tissue (MALT) type remain localized for long periods of time, and therefore have an excellent prognosis. However, if generalization and/or transformation into a diffuse large-cell lymphoma occurs, the prognosis deteriorates and no established treatment concepts are yet available. We report about a 57-year-old female patient with relapsed transformed stage-IV extranodal MZBL of MALT type of the entire gastrointestinal tract who was successfully treated using salvage chemotherapy followed by BEAM conditioning [BCNU 1,3-bis-2-(chloroethyl-1-nitrosourea), etoposide, cytosine arabinoside, and melphalan] and autologous peripheral stem cell transplantation. Follow-up revealed a sustained complete remission for 22 months.- - - - - - - - - - ranking = 5keywords = peripheral (Clic here for more details about this article) |
5/49. Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germline mutation of the c-kit gene.We describe 2 siblings with multiple gastrointestinal stromal tumors (GISTs) and cutaneous hyperpigmentation. Both had a point mutation of the c-kit gene. The patients were sisters who had exhibited cutaneous hyperpigmentation since their late teens, but the diagnosis of multiple gastrointestinal submucosal tumors was not made until they were 41 and 45 years old. Histologic examination showed that these tumors were GISTs expressing CD34 and Kit protein. Both patients died of GISTs. Single-strand conformation polymorphism analysis showed a mutation of c-kit in tumor dna extracted from paraffin-embedded specimens. Direct sequencing analysis showed that the point mutation occurred at codon 559 of exon 11 (Val-->Ala). The same single-point mutation was detected in dna extracted from peripheral leukocytes obtained from the younger sister and her 2 children (who had similar general hyperpigmentation) as well as in dna from a skin biopsy specimen taken from the older sister. The germline mutation at codon 559 of the c-kit gene found in the present familial GISTs differed from that in a previously reported case of familial GISTs. We propose that GISTs caused by a germline mutation of the c-kit gene should be referred to as GIST-cutaneous hyperpigmentation disease.- - - - - - - - - - ranking = 1keywords = peripheral (Clic here for more details about this article) |
6/49. A malignant gastrointestinal stromal tumour in a patient with multiple endocrine neoplasia type 1.loss of heterozygosity for polymorphic markers flanking the multiple endocrine neoplasia type 1 (MEN-1) gene in parathyroid and pancreatic islet tumours from subjects with MEN-1 has been well documented and has led to the hypothesis that the MEN-1 gene functions as a recessive tumour suppressor gene. We report a case of MEN-1 with duodeno-pancreatic gastrinoma, parathyroid hyperplasia, pituitary adenoma, adrenal adenoma, and lipomas, whose rare association with a malignant gastrointestinal stromal tumour (GIST) represents an undescribed combination. MEN-1 mutation in this family was shown as a frameshift (1607delA) in exon 10. To assess the role of the MEN-1 gene in the pathogenesis of tumours less commonly associated with MEN-1, we studied GIST dna for loss of the unaffected MEN-1 gene allele. Stromal tumour and peripheral leucocyte DNAs from our patient were examined for loss of heterozygosity using the PYGM microsatellite polymorphism and an intragenic polymorphism (D418D in exon 9) in the MEN-1 gene. We showed no evidence for loss of the wild-type MEN-1 allele in GIST. The MEN-1 germline inactivating mutation 1607delA-ter558 in exon 10 was detected in the stromal tumour dna, but no somatic mutation in the wild-type MEN-1 allele in GIST dna was detected. Occurrence of GIST could be consistent with the possibility that this MEN-1-related uncommon neoplasm arose independently by a mechanism unrelated to the MEN-1 gene.- - - - - - - - - - ranking = 1keywords = peripheral (Clic here for more details about this article) |
7/49. gastrointestinal stromal tumors in the appendix: a clinicopathologic and immunohistochemical study of four cases.Mesenchymal tumors of the appendix are very rare, and specific stromal tumors (i.e., gastrointestinal stromal tumors, GISTs) have not been reported in this location to date. Four GISTs were identified in the review of primary mesenchymal tumors of the appendix from the files of the Armed Forces Institute of pathology from 1970 to 1998. There were also one benign schwannoma, one diffuse neurofibroma with neurofibromatosis 1, one leiomyosarcoma in a child with hiv infection, and one inflammatory fibroid polyp. The four appendiceal GISTs occurred in adult males 56-72 years of age (mean 63 years). Two tumors occurred in patients who had surgery for appendicitis-like symptoms: one was an incidental finding during surgery for a malignant gastric epithelioid GIST and one was an incidental autopsy finding. Only one of the two appendices operated for symptoms had acute inflammation, and a polypoid GIST projected outward from the proximal part of appendix. Three tumors were partially obliterating nodules, eccentrically expanding the appendiceal wall. All four were spindle cell tumors, and three of them contained extracellular collagen globules (skeinoid fibers); none had atypia or mitotic activity (<1/50 high power fields). Immunohistochemically, two tumors studied were positive for CD117 (KIT), and two were positive for CD34. The tumors were negative for alpha-smooth muscle actin and S-100 protein. Follow-up revealed death from cardiovascular disease in one case (4 years after appendectomy) and liver failure because of malignant gastric epithelioid GIST metastatic to liver in another case 15 years after the appendectomy. This report documents the rare occurrence of CD117-positive GISTs as primary appendiceal tumors.- - - - - - - - - - ranking = 253.90714768498keywords = neurofibromatosis (Clic here for more details about this article) |
8/49. Gastrointestinal autonomic nerve tumor: case report and review of the literature.Gastrointestinal autonomic nerve (GAN) tumor is an uncommon specialized form of gastrointestinal stromal tumor (GIST). We report the case of a 46-year-old man affected by this tumor. The neoplasm arose from the sigmoid colon. The patient underwent surgery but eight months later an omental relapse occurred. A second laparotomy was successfully performed and the patient is free of disease at 21 months of follow-up. To our knowledge this is the first case of a large bowel GAN tumor described in the literature.- - - - - - - - - - ranking = 2.2523070855048keywords = nerve (Clic here for more details about this article) |
9/49. Gastrointestinal stromal tumor in an XYY/XY male.A 32-year-old patient was diagnosed with a gastrointestinal stromal tumor of the small bowel. The pathologic diagnosis was confirmed by positive immunochemistry against CD34, and against CD117, the tyrosine-kinase c-kit. We performed a karyotypic analysis on the basis of the patient's tall stature and speech difficulties. One hundred thirty-two metaphases were obtained on PHA-stimulated peripheral blood; 123 of them presented an extra chromosome Y. fluorescence in situ hybridization using a Y satellite III probe showed the presence of a sole copy of chromosome Y in the tumor cells precluding a direct relationship between the extra chromosome Y and the initiation of the tumor. This is, to our knowledge, the second occurrence of a nonhematologic malignancy reported in this genetic disorder. A review of the malignancies observed in men with the XYY constitution is presented.- - - - - - - - - - ranking = 1keywords = peripheral (Clic here for more details about this article) |
10/49. somatostatinoma of the papilla of Vater with multiple gastrointestinal stromal tumors in a patient with von Recklinghausen's disease.We report a case of somatostatinoma of the papilla of Vater with multiple gastrointestinal stromal tumors in a patient with von Recklinghausen's disease (VRD). A 64-year-old woman who had had recurrent attacks of acute pancreatitis and cholangitis was found, on gastroduodenal endoscopy, to have a tumor of the papilla of Vater and multiple submucosal tumors of the stomach and duodenum. Numerous submucosal tumors were observed in the stomach, duodenum, and jejunum, and total excision of the papilla of Vater and resection of the duodenal and jejunal submucosal tumors was performed. The tumor of the papilla of Vater showed the histologic appearance of a dense proliferation of tumor cells in acinar form, from the duodenal mucosa to the muscle layer, and psammoma bodies were revealed within the tumor. Immunohistologically, the tumor cells were intensely positive for somatostatin. The submucosal tumors of the duodenum and jejunum were negative for smooth muscle actin, s-100, and neuron-specific enolase (NSE), and positive for CD34 and c-kit, and they were diagnosed as gastrointestinal stromal tumors (GISTs) according to the strict definition. The only 25 cases of papilla of Vater somatostatinoma associated with VRD to have been reported in the English-language literature since 1982 are reviewed, as well as our own case.- - - - - - - - - - ranking = 3.0200290213642keywords = von (Clic here for more details about this article) |
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