Acute myeloid leukemia with promyelocytic morphology lacking RARA rearrangement and with double minutes, MYC deletion an
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ORIGINAL ARTICLE
Acute myeloid leukemia with promyelocytic morphology lacking RARA rearrangement and with double minutes, MYC deletion and 2 cell lines with amplification of MYC region: case report and literature review Jie Xu & Anargyros Xenocostas & Alejandro Lazo-Langner
Received: 6 March 2012 / Accepted: 20 June 2012 / Published online: 4 July 2012 # Springer-Verlag 2012
Abstract Acute promyelocytic leukemia (APL) typically demonstrates the translocation t(15;17)(q24;q21) leading to PML-RARA fusion in ~92 % of the cases. The remaining t (15;17) negative APL-like cases may have other cytogenomic rearrangements, including cryptic PML-RARA fusion, translocation variants, or MYC gene amplification. The morphologic and cytogenetic profile of the APL-like cases with MYC amplification and the prognostic implications are largely unknown due to rarity of these cases. Here, we present a case of acute myeloid leukemia with promyelocytic morphology lacking the classic t(15;17) and RARA rearrangement, with der(5)t(5;17)(q13;21), MYC deletion, double minutes, and two cell lines with amplification of the MYC region. The two cell lines differed in contribution to the proportion of the cells and copy number of the amplified probes during the clinical course. This is likely the first case with such a complex molecular cytogenetic evolution detailed in the same patient. Literature review revealed that most of the APL-like cases J. Xu (*) Cytogenetics, London Health Sciences Centre and Western University, 800 Commissioners Rd, E, Rm B10-124, London, ON N6A 5W9, Canada e-mail: [email protected] A. Xenocostas : A. Lazo-Langner Hematology, London Health Sciences Centre and Western University, London, ON, Canada A. Lazo-Langner Epidemiology and Biostatistics, London Health Sciences Centre and Western University, London, ON, Canada
with MYC amplification have no t(15;17) and PML-RARA (78.5 %; 7/8 cases) but a complex karyotype (75 %; 6/8 cases). Deletion 17p/monosomy 17 and deletion 9p/monosomy 9 are reported in ~40–50 % of the cases and are associated with poor prognosis. MYC amplification alone may not be a reliable prognostic indicator in APL-like cases. Our findings can be very helpful for clinicopathologic/cytogenetic correlation and potentially management of such rare but potentially unrecognized APL-like patients. Keywords Acute promyelocytic leukemia . Lacking t(15;17) . Lacking RARA fusion . FISH . MYC deletion . MYC amplification
Introduction Acute promyelocytic leukemia (APL) is characterized by a proliferation of blasts and morphologically abnormal promyelocytes in the bone marrow and peripheral blood. Diagnosis of APL requires demonstration of rearrangements involving RARA (17q21). A vast majority (~92 %) of APL cases have the classic translocation t(15;17)(q24;q21) leading to PML-RARA fusion [1]. The remaining t(15;17) negative APL cases may have (1) cryptic insertions or other rearrangements leading to PML-RARA fusion detectable by FISH, RT-PCR, long-distance DNA-PCR or sequencing analysis; and (2) translocation varia
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