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Rare t(1;11)(q23;p15) in therapy-related myelodysplastic syndrome evolving into acute myelomonocytic leukemia: a case report and review of the literature.

Abstract
Balanced chromosome rearrangements are the hallmark of therapy-related leukemia that develops in patients treated with topoisomerase II inhibitors. Many of these rearrangements involve recurrent chromosomal sites and associated genes (11q23/MLL, 21q22.3/AML1, and 11p15/NUP98), which can interact with a variety of partner genes. One such rearrangement is the rare t(1;11)(q23;p15), which involves juxtaposition of the homeobox gene PMX1 (PRRX1) and NUP98. We report on an additional patient with t(1;11) who presented with myelodysplastic syndrome (MDS) subsequent to treatment for a pleomorphic liposarcoma. With time, the patient's disorder progressed to acute myelomonocytic leukemia with cytogenetic evidence of clonal evolution. To our knowledge, this is the first report of a patient presenting with a myelodysplastic syndrome with isolated t(1;11) (q23;p15), which evolved into therapy-related acute myeloid leukemia (t-AML). This patient is the third reported with this cytogenetic rearrangement and t-AML, and is compared with the other two reports of t(1;11)(q23;p15).
AuthorsLing Zhang, Randa Alsabeh, Cristina Mecucci, Roberta La Starza, Paolo Gorello, Stephen Lee, Michael Lill, Rhona Schreck
JournalCancer genetics and cytogenetics (Cancer Genet Cytogenet) Vol. 178 Issue 1 Pg. 42-8 (Oct 01 2007) ISSN: 0165-4608 [Print] United States
PMID17889707 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Adult
  • Aged
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 11
  • Disease Progression
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myelomonocytic, Acute (genetics)
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes (genetics, pathology, therapy)
  • Neutrophils (metabolism)
  • Translocation, Genetic

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