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Acute promyelocytic leukemia relapsing as secondary acute myelogenous leukemia with translocation t(3;21)(q26;q22) and RUNX1-MDS1-EVI1 fusion transcript

Authors
 Tae Sung Park  ;  Jong Rak Choi  ;  Sul Hee Yoon  ;  Jaewoo Song  ;  Juwon Kim  ;  Sue Jung Kim  ;  Ohgun Kwon  ;  Yoo Hong Min 
Citation
 CANCER GENETICS AND CYTOGENETICS , Vol.187(2) : 61-73, 2008 
Journal Title
 CANCER GENETICS AND CYTOGENETICS 
ISSN
 0165-4608 
Issue Date
2008
MeSH
Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Bone Marrow/ultrastructure ; Chromosome Painting ; Chromosomes, Human, Pair 21/genetics ; Chromosomes, Human, Pair 3/genetics ; Core Binding Factor Alpha 2 Subunit/genetics ; Core Binding Factor Alpha 2 Subunit/metabolism ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Female ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute/genetics* ; Leukemia, Myeloid, Acute/pathology ; Leukemia, Myeloid, Acute/therapy ; Leukemia, Promyelocytic, Acute/drug therapy ; Leukemia, Promyelocytic, Acute/genetics* ; Leukemia, Promyelocytic, Acute/pathology ; MDS1 and EVI1 Complex Locus Protein ; Middle Aged ; Neoplasm Proteins/genetics ; Neoplasm Proteins/metabolism ; Neoplasms, Second Primary/genetics* ; Neoplasms, Second Primary/pathology ; Oncogene Proteins, Fusion/genetics* ; Proto-Oncogenes/genetics ; Sequence Analysis, DNA ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Translocation, Genetic* ; Tretinoin/therapeutic use
Keywords
Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Bone Marrow/ultrastructure ; Chromosome Painting ; Chromosomes, Human, Pair 21/genetics ; Chromosomes, Human, Pair 3/genetics ; Core Binding Factor Alpha 2 Subunit/genetics ; Core Binding Factor Alpha 2 Subunit/metabolism ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Female ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute/genetics* ; Leukemia, Myeloid, Acute/pathology ; Leukemia, Myeloid, Acute/therapy ; Leukemia, Promyelocytic, Acute/drug therapy ; Leukemia, Promyelocytic, Acute/genetics* ; Leukemia, Promyelocytic, Acute/pathology ; MDS1 and EVI1 Complex Locus Protein ; Middle Aged ; Neoplasm Proteins/genetics ; Neoplasm Proteins/metabolism ; Neoplasms, Second Primary/genetics* ; Neoplasms, Second Primary/pathology ; Oncogene Proteins, Fusion/genetics* ; Proto-Oncogenes/genetics ; Sequence Analysis, DNA ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Translocation, Genetic* ; Tretinoin/therapeutic use
Abstract
Acute promyelocytic leukemia (APL) is a subtype of acute myelogenous leukemia (AML) that is characterized by peculiar clinical and biologic features, including severe hemorrhagic diathesis, specific recurrent chromosomal aberration, and distinct morphologic features with predominant pathologic promyelocytes. A reciprocal translocation involving chromosomes 15 and 17, t(15;17)(q22;q21), is a characteristic feature of APL that represents approximately 5-8% of AML. The rearranged gene created by this translocation encodes a chimeric protein PML-RARA that is a transcriptional repressor. In contrast to other AML subtypes, APL is particularly sensitive to treatment with all trans-retinoic acid (ATRA) combined with chemotherapy, converting this once fatal leukemia to a highly curable disease. Nonetheless, therapy-related myelodysplastic syndrome-acute myelogenous leukemia (t-MDS/AML) has been reported as a rare complication of chemotherapy in APL. Of 30 APL cases described as t-MDS/AML in the literature, only 1 case relapsed as acute leukemia with t(3;21)(q26;q22). Here we describe a rare case of APL relapsing as secondary AML with t(3;21)(q26;q22) and clinically characterize this patient using the RUNX1 (previously AML1)-MDS1-EVI1 fusion transcript (with follow-up for 55 months), and review the relevant literature.
Full Text
http://www.sciencedirect.com/science/article/pii/S0165460808004032
DOI
10.1016/j.cancergencyto.2008.06.015
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Min, Yoo Hong(민유홍) ORCID logo https://orcid.org/0000-0001-8542-9583
Park, Tae Sung(박태성)
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/107754
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