Therapy-related acute leukemia with mixed phenotype and t(9;22)(q32;q11.2): a case report and review of the literature.
Therapy-related acute leukemia showing mixed phenotype is extremely rare. We report a 49-year-old woman who presented with palpable masses in her neck and back. She had received systemic chemotherapy (adriamycin and cisplatin) and radiotherapy for endometrial adenocarcinoma 7 years before. Her peripheral blood and bone marrow showed increased blasts, which coexpressed myeloid (CD13, CD33, and myeloperoxidase) and B-lymphoid antigens (CD19 and CD79a). Cytogenetic analysis showed a karyotype of 46,XX,dup(1)(q21q32),add(5)(q33),t(9;22)(q34;q11.2)[12]/47,idem,+der(22)t(9;22)[8], and BCR/ABL1 rearrangement was detected. Leukemic infiltration was also confirmed in her back mass. After induction chemotherapy with idarubicin, cytarabine, and imatinib, she achieved complete remission. Only 2 cases of therapy-related acute leukemia with mixed phenotype have been reported so far: one with hyperploidy and the other with t(1;21)(p36;q22). To the best of our knowledge, this is the first case of therapy-related acute leukemia with mixed phenotype and t(9;22) as well as extramedullary leukemic infiltrations.
Department of Laboratory Medicine, Konkuk University School of Medicine, Seoul 143-729, Korea.
Jin-Hee
JH
Cho
Mina
M
Hur
Hee-Won
HW
Moon
Yeo-Min
YM
Yun
Young Sin
YS
Ko
Wan Seop
WS
Kim
Mark Hong
MH
Lee
D000230:Adenocarcinoma / Q000188:drug therapy / Q000532:radiotherapy; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000009:adverse effects / Q000627:therapeutic use*; D001415:Back; D001549:Benzamides; D001853:Bone Marrow / Q000473:pathology; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003561:Cytarabine / Q000008:administration & dosage; D016889:Endometrial Neoplasms / Q000188:drug therapy / Q000532:radiotherapy; D005260:Female; D015321:Gene Rearrangement; D016313:Genes, abl / Q000235:genetics; D006801:Humans; D015255:Idarubicin / Q000008:administration & dosage; D000068877:Imatinib Mesylate; D016130:Immunophenotyping; D060828:Induction Chemotherapy; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D017254:Leukemic Infiltration / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008875:Middle Aged; D016609:Neoplasms, Second Primary / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010879:Piperazines / Q000008:administration & dosage; D011743:Pyrimidines / Q000008:administration & dosage; D012074:Remission Induction; D012983:Soft Tissue Neoplasms / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D013365:Submandibular Gland Neoplasms / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D014178:Translocation, Genetic
D001549:Benzamides; D010879:Piperazines; D011743:Pyrimidines; D003561:Cytarabine; D000068877:Imatinib Mesylate; D015255:Idarubicin