1l27050526:id1996-12-01regularElsevierCopyright 2009 Elsevier B.V., All rights reserved.10.1002/(SICI)1097-0215(19961220)69:6<480::AID-IJC11>3.0.CO;2-5L2705052627050526199703431489802511997-02-241997-02-23EMBASEMEDLINEArticleEnglishEnglishEnglishyMicrosatellite instability in B-cell lymphoma originating from Bloom syndrome1Kaneko H.H.KanekoHideohideo@cc.gifu-u.ac.jp2Inoue R.R.InoueRyousuke3Yamada Y.Y.YamadaYukiji4Sukegawa K.K.SukegawaKazuko5Fukao T.T.FukaoToshiyuki6Tashita H.H.TashitaHideaki7Teramoto T.T.TeramotoTakahide8Kasahara K.K.KasaharaKimiko10Kondo N.N.KondoNaomiJapanDepartment of PediatricsGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 5009Takami T.T.TakamiTsuyoshiJapanDepartment of 2nd PathologyGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 500Kaneko H.H.KanekoJapanDepartment of PediatricsGifu University School of MedicineTsukasa-mati 40Gifu 500hideo@cc.gifu-u.ac.jpyEnglishBloom syndrome (BS) is a rare autosomal recessive genetic disorder characterized by lupus-like erythematous telangiectasias of the face, sun sensitivity, stunted growth infertility and immunodeficiency. In addition, BS patients are highly predisposed to cancers. Although recently the causative gene of BS (BLM) was identified as a DNA helicase homologue, the function of BLM in DNA replication has not been elucidated. In this study, p53 mutation and microsatellite instability in B-cell lymphomas originating from 2 sibling BS patients were investigated. In the originally developed tumor of both patients, no p53 mutation was detected. In one patient, however, after treatment by ionizing radiation the B-cell lymphoma recurred, showing a 9-bp deletion in exon 7. In lymphoma cells and an EB-virus-transformed cell line from BS lymphocytes of this patient, microsatellite instability was also detected from the reduced length of microsatellite DNA markers, although in the other patient microsatellite instability was not detected. Thus, 2 B-cell lymphomas, despite having the same BLM mutation, showed different phenotypes in terms of p53 mutation and microsatellite instability.yDRGamicrosatellite DNAendogenous compoundmicrosatellite dnayMEDbadultbarticleaB cell lymphomaetiologyb cell lymphomaaBloom syndromeetiologybloom syndromebclinical articlebfemalebhumanbhuman cellbmaleamicrosatellite instabilitybpriority journal1622251Kaneko H.H.KanekoHideohideo@cc.gifu-u.ac.jpJapanDepartment of PediatricsGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 5002Inoue R.R.InoueRyousukeJapanDepartment of PediatricsGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 5003Yamada Y.Y.YamadaYukijiJapanDepartment of PediatricsGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 5004Sukegawa K.K.SukegawaKazukoJapanDepartment of PediatricsGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 5005Fukao T.T.FukaoToshiyukiJapanDepartment of PediatricsGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 5006Tashita H.H.TashitaHideakiJapanDepartment of PediatricsGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 5007Teramoto T.T.TeramotoTakahideJapanDepartment of PediatricsGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 5008Kasahara K.K.KasaharaKimikoJapanDepartment of PediatricsGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 5009Takami T.T.TakamiTsuyoshiJapanDepartment of 2nd PathologyGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 50010Kondo N.N.KondoNaomiJapanDepartment of PediatricsGifu UniversitySchool of MedicineTsukasa-mati 40Gifu 500truefalsefalsefalsefalsefalsefalse21amicrosatellite DNAendogenous compoundmicrosatellite dnachemicals and drugsdnamicrosatellite dnanatural products and their synthetic derivativesnucleic acidnucleic acids, nucleic acid components and their derivativesbadultadultgroups by agegroups by age and sexbarticlearticletypes of articletypes of article or studyaB cell lymphomaetiologyb cell lymphomab cell lymphomadiseaseshematologic diseaselymphatic system diseaselymphatic system tumorlymphomalymphoproliferative diseasemalignant neoplastic diseaseneoplasmneoplasms subdivided by anatomical sitenonhodgkin lymphomaphysical diseasephysical disease by anatomical structurephysical disease by etiology and pathogenesisaBloom syndromeetiologybloom syndromeabnormal body buildautosomal disorderautosomal recessive disorderbloom syndromecongenital disordercongenital disorders of the skin, skin appendages and subcutaneous tissuecongenital skin diseasediseasesgenetic and familial disordersgenetic disordergrowth disorderimmunopathologyinfant diseasemonogenic disordernewborn diseasephotosensitivity disorderphysical diseasephysical disease by anatomical structurephysical disease by body functionphysical disease by developmental agephysical disease by etiology and pathogenesisshort statureskin diseasebclinical articleclinical articleclinical studyin vivo studytypes of article or studytypes of studybfemalefemalegroups by age and sexgroups by sexbhumanamnioteanimalapebilateriacatarrhinichordatadeuterostomiaeuarchontoglireseukaryotehaplorhinihominidhumanhuman versus nonhuman datamammalopisthokontaorganismsplacental mammalsprimatesimiantetrapodtheriantypes of article or studytypes of studyvertebratebhuman cellanatomical conceptscell typecellshuman cellhuman tissue, cells or cell componentsin vitro studytypes of article or studytypes of studybmalegroups by age and sexgroups by sexmaleamicrosatellite instabilitybiological functionsbiological phenomena and functions concerning the entire organismgenetic parametershereditymicrosatellite instabilityparameterspopulation genetic parametersprocedures, parameters and devicesbpriority journalpriority journaltypes of articletypes of article or study
microsatellite dna
b cell lymphomabloom syndromeclinical articlehumanhuman cellfemalemaleadult