title: A der(13)t(7;13)(p13;q14) with monoallelic loss of RB1 and D13S319 in myelodysplastic syndrome.
abstract: Deletions or translocations of chromosome band 13q14, the locus of the retinoblastoma gene (RB1), have been observed in a variety of hematological malignancies including myelodysplastic syndrome (MDS). We describe here a novel unbalanced translocation der(13)t(7;13)(p13;q14) involving 13q14 in a patient with MDS. A 66-year-old woman was diagnosed as having MDS, refractory anemia with excess of blasts (RAEB-1) because of 7.4% blasts and trilineage dysplasia in the bone marrow cells. G-banding and spectral karyotyping analyses showed complex karyotypes as follows: 46,XX,der(6)t(6;7)(q11;?),der(7)del(7)(?p13)t(6;7)(q?;q11)t(6;13)(q?;q?),der(13)t(7;13)(p13;q14). Fluorescence in situ hybridization (FISH) analyses demonstrated that one allele of the RB1 gene and the microsatellite locus D13S319, located at 13q14 and telomeric to the RB1 gene, was deleted. Considering other reported cases, our results indicate that submicroscopic deletions accompanying 13q14 translocations are recurrent cytogenetic aberrations in MDS. The RB1 gene or another tumor suppressor gene in the vicinity of D13S319, or both, may be involved in the pathogenesis of MDS with 13q14 translocations by monoallelic deletion.
authors.affiliation: Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
authors.forename: Katsuya
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Ito
authors.forename: Kentaro
authors.initials: K
authors.lastname: Minagawa
authors.forename: Norinaga
authors.initials: N
authors.lastname: Urahama
authors.forename: Akiko
authors.initials: A
authors.lastname: Sada
authors.forename: Atsuo
authors.initials: A
authors.lastname: Okamura
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Matsui
mesh_terms: D000368:Aged; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics*; D032681:Spectral Karyotyping; D014178:Translocation, Genetic
chemical_list: D016160:Retinoblastoma Protein