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

[pleomorphic liposarcoma]

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 (11 q 23 /MLL , 21 q 22 .3 /AML 1 , and 11 p 15 /NUP 98 ), which can interact with a variety of partner genes . One such rearrangement is the rare t (1 ;11 )(q 23 ;p 15 ), which involves juxtaposition of the homeobox gene PMX 1 (PRRX 1 ) and NUP 98 . 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 ) (q 23 ;p 15 ), 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 )(q 23 ;p 15 ).

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Diseases presenting "associated genes" symptom

pleomorphic liposarcoma

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