Essential thrombocythemia with myelofibrosis transformed into acute myeloid leukemia with der(1;15)(q10;q10): case report and literature review

Khalil M Charafeddine; Rami A Mahfouz; Ghazi S Zaatari; Georges Y Ibrahim; Samar A Muwakkit; Nada D Najm; Chantal G Farra

doi:10.1016/j.cancergencyto.2010.03.010

Essential thrombocythemia with myelofibrosis transformed into acute myeloid leukemia with der(1;15)(q10;q10): case report and literature review

Cancer Genet Cytogenet. 2010 Jul 1;200(1):28-33. doi: 10.1016/j.cancergencyto.2010.03.010.

Authors

Khalil M Charafeddine¹, Rami A Mahfouz, Ghazi S Zaatari, Georges Y Ibrahim, Samar A Muwakkit, Nada D Najm, Chantal G Farra

Affiliation

¹ Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Lebanon.

PMID: 20513531
DOI: 10.1016/j.cancergencyto.2010.03.010

Abstract

Translocations involving chromosomes 1 and 15 are uncommon in hematologic malignancies. So far, only 42 cases have been reported with t(1;15) as a reciprocal or complex chromosomal abnormalities. We herein report the first case in the literature, to our knowledge, of a 44-year-old female with essential thrombocythemia and severe myelofibrosis who developed acute myeloid leukemia (AML-M4) with der(1;15)(q10;q10) after 13 years of treatment. In addition, we reviewed the literature for all up-to-date published cases with t(1;15).

Publication types

Case Reports
Review

MeSH terms

Adult
Chromosome Aberrations
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 15*
Female
Humans
Leukemia, Myeloid, Acute / genetics*
Primary Myelofibrosis / genetics*
Thrombocythemia, Essential / genetics*