title: Unbalanced translocation der(1;7)(q10;p10) defines a unique clinicopathological subgroup of myeloid neoplasms.
abstract: The unbalanced translocation, der(1;7)(q10;p10), is one of the characteristic cytogenetic abnormalities found in myelodysplastic syndromes (MDS) and other myeloid neoplasms. Although described frequently with very poor clinical outcome and possible relationship with monosomy 7 or 7q- (-7/7q-), this recurrent cytogenetic abnormality has not been explored fully. Here we analyzed retrospectively 77 cases with der(1;7)(q10;p10) in terms of their clinical and cytogenetic features, comparing with other 46 adult -7/7q- cases without der(1;7)(q10;p10). In contrast with other -7/7q- cases, where the abnormality tends to be found in one or more partial karyotypes, der(1;7)(q10;p10) represents the abnormality common to all the abnormal clones and usually appears as a sole chromosomal abnormality during the entire clinical courses, or if not, is accompanied only by a limited number and variety of additional abnormalities, mostly trisomy 8 and/or loss of 20q. der(1;7)(q10;p10)-positive MDS cases showed lower blast counts (P<0.0001) and higher hemoglobin concentrations (P<0.0075) at diagnosis and slower progression to acute myeloid leukemia (P=0.0043) than other -7/7q- cases. der(1;7)(q10;p10) cases showed significantly better clinical outcome than other -7/7q cases (P<0.0001). In conclusion, der(1;7)(q10;p10) defines a discrete entity among myeloid neoplasms, showing unique clinical and cytogenetic characteristics.
authors.affiliation: Department of Regeneration Medicine for Hematopoiesis, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Sanada
authors.forename: N
authors.initials: N
authors.lastname: Uike
authors.forename: K
authors.initials: K
authors.lastname: Ohyashiki
authors.forename: K
authors.initials: K
authors.lastname: Ozawa
authors.forename: W
authors.initials: W
authors.lastname: Lili
authors.forename: A
authors.initials: A
authors.lastname: Hangaishi
authors.forename: Y
authors.initials: Y
authors.lastname: Kanda
authors.forename: S
authors.initials: S
authors.lastname: Chiba
authors.forename: M
authors.initials: M
authors.lastname: Kurokawa
authors.forename: M
authors.initials: M
authors.lastname: Omine
authors.forename: K
authors.initials: K
authors.lastname: Mitani
authors.forename: S
authors.initials: S
authors.lastname: Ogawa
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002897:Chromosomes, Human, Pair 7; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000473:pathology; D012189:Retrospective Studies; D014178:Translocation, Genetic