A der(13)t(7;13)(p13;q14) with monoallelic loss of RB1 and D13S319 in myelodysplastic syndrome

Katsuya Yamamoto, Mitsuhiro Ito, Kentaro Minagawa, Norinaga Urahama, Akiko Sada, Atsuo Okamura, Toshimitsu Matsui

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)160-165
Number of pages6
JournalCancer Genetics and Cytogenetics
Volume162
Issue number2
DOIs
StatePublished - Oct 15 2005

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Myelodysplastic Syndromes
Refractory Anemia with Excess of Blasts
Spectral Karyotyping
Genes
Retinoblastoma Genes
Hematologic Neoplasms
Tumor Suppressor Genes
Fluorescence In Situ Hybridization
Karyotype
Chromosome Aberrations
Bone Marrow Cells
Microsatellite Repeats
Chromosomes
Alleles

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research

Cite this

Yamamoto, Katsuya ; Ito, Mitsuhiro ; Minagawa, Kentaro ; Urahama, Norinaga ; Sada, Akiko ; Okamura, Atsuo ; Matsui, Toshimitsu. / A der(13)t(7;13)(p13;q14) with monoallelic loss of RB1 and D13S319 in myelodysplastic syndrome. In: Cancer Genetics and Cytogenetics. 2005 ; Vol. 162, No. 2. pp. 160-165.
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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.",
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A der(13)t(7;13)(p13;q14) with monoallelic loss of RB1 and D13S319 in myelodysplastic syndrome. / Yamamoto, Katsuya; Ito, Mitsuhiro; Minagawa, Kentaro; Urahama, Norinaga; Sada, Akiko; Okamura, Atsuo; Matsui, Toshimitsu.

In: Cancer Genetics and Cytogenetics, Vol. 162, No. 2, 15.10.2005, p. 160-165.

Research output: Contribution to journalArticle

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T1 - A der(13)t(7;13)(p13;q14) with monoallelic loss of RB1 and D13S319 in myelodysplastic syndrome

AU - Yamamoto, Katsuya

AU - Ito, Mitsuhiro

AU - Minagawa, Kentaro

AU - Urahama, Norinaga

AU - Sada, Akiko

AU - Okamura, Atsuo

AU - Matsui, Toshimitsu

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AB - 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.

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