Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0017638 (glioma)
 30,880 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An autopsy case of von Recklinghausen's disease (vRD) associated with malignant pheochromocytoma is reported. The patient is a 36-year-old Japanese male and diagnosed as vRD both clinically and pathologically. He died from right adrenal tumor with wide spread metastases to lungs and bone marrow. The tumors presented satisfactory histological features in favor of pheochromocytoma and neurosecretory granules were demonstrated in both primary and metastatic lesions ultrastructurally. Statistical study of 182, 673 autopsy cases from Annuals of Japanese Autopsy Cases was also done in order to investigate the relationship between vRD and associating tumors including benign and malignant pheochromocytoma. Cases with vRD showed significantly higher incidences of malignant Schwannoma, neurofibrosarcoma, intracranial glioma, and pheochromocytoma compared to that of non-vRD cases. Other malignancies revealed rather smaller incidences than non-vRD cases. These neurogenic tumors are to be principal life threatening problems in patients with vRD. Rare incidence of malignant pheochromocytoma in vRD is to become from low incidence of pheochromocytoma, though significantly greater than that of non-vRD cases.
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PMID:Von Recklinghausen's disease (neurofibromatosis) associated with malignant pheochromocytoma. 643 30

Mxi1 is thought to negatively regulate Myc function and may therefore be a potential tumor suppressor gene. Little effort has yet been made to find alterations involving this gene in human solid tumors. We screened 31 human gastric cancers, 7 esophageal cancers, 85 bone and soft tissue tumors of various types, including 4 neurofibrosarcomas. We also examined 29 human tumor cell lines consisting of 12 esophageal cancers, 7 glioma/glioblastomas and 10 others for Mxi1 mutations in exons 1, 2, 4 (HLH domain), 5 and 6. Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and subsequent sequencing revealed three distinct polymorphisms in the intron-exon boundary upstream from exon 6. We discovered a missense mutation, GCA to GTA (Ala 54 Val), in exon 2 in a neurofibrosarcoma patient (case 1), two missense mutations, AAA to CAA (Lys 118 Gln) and GAA to GGA (Glu 154 Gly) in exon 5 of another neurofibrosarcoma patient (case 2), and 3 amino acid substitutions, GTG to GCG (Val 179 Ala), GTT to GCT (Val 181 Ala) and TTC to CTC (Phe 186 Leu), in a third neurofibrosarcoma patient (case 3). In case 3, loss of heterozygosity was also demonstrated by informative (TTC)3/(TTC)2 polymorphism. Our data demonstrate that mutations occur in the Mxi1 gene in neurofibrosarcoma. Missense mutations in the functional domain of Mxi1 in these cases may be involved in the pathogenesis of neurofibrosarcoma.
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PMID:Mxi1 mutations in human neurofibrosarcomas. 1047 Feb 86