A Case of Acute Myeloid Leukemia with Maturation (AML-M2) with C-MYC Amplification in Homogenous Staining Region (hsr) and Double Minutes (dmin)

Abstract

Homogeneous staining region (hsr) and double minutes (dmin), cytogenetic indicators of gene amplification, are rare findings in hematologic malignancies, and most frequently associated with acute myeloid leukemias (AML). Herein, we report a 74-year-old female presenting AML with maturation (AML-M2) with c-MYC amplification in hsr and dmin. Conventional cytogenetic techniques showed 46, XX, hsr(4)(q25)[15]/46, XX,~20dmin[5]. The c-MYC amplification in hsr was suspected by multicolor fluorescence in situ hybridization (mFISH) using 24XCyte Human mFISH Painting Kit. Amplification of c-MYC in hsr and dmin were confirmed by fluorescence in situ hybridization (FISH) using LSI MYC(8q24) Dual color, Break Apart Rearrangement Probe. The presentation of both dmin and hsr was rare in AML cases. Majority of AML cases with c-MYC or MLL amplification in dmin or hsr were women older than 50 years, had de novo AML with complex karyotypes and had a short survival. But, this case had no chromosomal aberration besides c-MYC amplification and showed a good response to chemotherapy with a complete remission for 21 months.