Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Castleman disease (CD) is widely regarded as a non-neoplastic process, yet clonal cytogenetic abnormalities have been rarely reported and are restricted to the hyaline-vascular variant. It remains unclear whether this reflects true rarity in such tumors - the fact that such cases are not routinely submitted for cytogenetic studies, or that suspension culture techniques are erroneously used rather than in situ cultures. We report a localized plasma cell variant of CD (PC-CD) with clonal abnormalities. A human immunodeficiency virus-negative 35-year-old man sought care for vague abdominal pain and was found to have an isolated 6-cm mesenteric mass. PC-CD was diagnosed by integrating clinical, laboratory, morphologic, and immunophenotypic studies. Flow cytometric, immunohistochemical, and molecular IGH@ gene rearrangement studies were all negative for a clonal B or plasma cell population. A cytogenetic in situ culture analysis revealed an abnormal karyotype: 46,XY,add(6)(p23),add(7)(p15),del(7)(p15),add(9)(q22)[4]/46,XY,inv(9)(p13q22)[2]/46,XY,-3,+r[2]/46,XY[3]. A cytogenetic suspension culture showed a normal karyotype. On the basis of the morphologic and immunophenotypic features, these genetic changes are attributed to the non-lymphoid cells, most probably of stromal, dendritic, or endothelial origin. Because the pathogenesis of PC-CD is not thought to typically involve the proliferation of these cell types, this is a new and unexpected finding and may provide pathogenetic insight.
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PMID:Clonal cytogenetic abnormalities in the plasma cell variant of Castleman disease. 2176 29

Small endoscopic biopsies of the terminal ileum may be difficult to assess for early involvement by lymphoma. Immunophenotypic and genotypic analyses are often utilized, but the performance of these studies in this setting is not well defined. Terminal ileal biopsies from 66 patients with prominent lymphoid hyperplasia and abnormal "lymphoma-like" morphology were evaluated by immunohistochemistry (IHC) for CD3, CD5, CD43, CD20, CD21, and CD10 expression and for IGH@ gene rearrangement by polymerase chain reaction using BIOMED-2 primers. Patients ranged in age from 3 to 80 years. Indications for endoscopy included inflammatory bowel disease (29), diarrhea and/or abdominal pain (28), history of lymphoma (13), and others (4). Four biopsies with abnormal morphology had abnormal IHC and a clonal IGH@ peak; all were obtained from patients with a history of lymphoma and determined to be recurrent lymphoma. Three biopsies with abnormal morphology and abnormal IHC but no clonal IGH@ peak were obtained from patients with a history of lymphoma (2) and chronic diarrhea (1); all showed symptom resolution or remission of disease (mean follow-up, 37 mo). Eight biopsies with abnormal morphology but no abnormal IHC expression also had abnormal IGH@ results (4 clonal and 4 borderline). IGH@ evaluation of follow-up biopsies for these cases were nonclonal (7) or clonal, but with a different clone from the prior biopsy (1); follow-up of the 8 patients showed no evidence of lymphoma (mean, 37.8 mo). Abnormal IHC expression pattern or clonal IGH@ rearrangement in endoscopic biopsies of the lymphoid-rich terminal ileum do not necessarily warrant a diagnosis of lymphoma. To prevent misdiagnosis, B-cell clonality studies should only be performed when there is strong clinical suspicion for lymphoma and compelling IHC data; the absence of a reproducible clone in repeat biopsy specimens may be useful in patients that do not have other clinical evidence of lymphoma.
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PMID:Reactive lymphoid hyperplasia of the terminal ileum: a benign (lymphoma-like) condition that may harbor aberrant immunohistochemical patterns or clonal immunoglobulin heavy chain gene rearrangements. 2489 69