Acute promyelocytic leukemia with PML-RARA fusion on i(17q) and therapy-related acute myeloid leukemia

Geok Yee Lee; Sivaswaren Christina; Sim Leng Tien; Anisah Bte Abdul Ghafar; William Hwang; Lay Cheng Lim; Tse Hui Lim

doi:10.1016/j.cancergencyto.2004.09.019

Acute promyelocytic leukemia with PML-RARA fusion on i(17q) and therapy-related acute myeloid leukemia

Cancer Genet Cytogenet. 2005 Jun;159(2):129-36. doi: 10.1016/j.cancergencyto.2004.09.019.

Authors

Geok Yee Lee¹, Sivaswaren Christina, Sim Leng Tien, Anisah Bte Abdul Ghafar, William Hwang, Lay Cheng Lim, Tse Hui Lim

Affiliation

¹ Cytogenetics Laboratory, Department of Pathology, Singapore General Hospital, Block 6, Level 5, Room A4, Outram Road, 169608 Singapore. geokyee@hotmail.com

PMID: 15899384
DOI: 10.1016/j.cancergencyto.2004.09.019

Abstract

We describe a patient with acute promyelocytic leukemia (APL) and the karyotype 46,XX,i(17)(q10) with PML-RARA fusion gene detected by fluorescence in situ hybridization (FISH) and nested reverse transcriptase-polymerase chain reaction (RT-PCR). FISH using dual-color translocation probes for PML (promyelocytic leukemia) and RARA (retinoic acid receptor-alpha) showed fusion signal for PML-RARA on both arms of i(17q). The patient attained complete remission (CR) with all-trans retinoic acid treatment and became PML-RARA negative. One year later, while PML-RARA negative on FISH and RT-PCR, the patient presented with thrombocytopenia. Bone marrow examination suggested an acute monoblastic leukemia (AML-M5a) including the karyotype 46,XX,t(8;16) (p11.2;p13.3),inv(11)(p15q22 approximately q23)[11]/47,idem,+i(8)(q10)[9]. She is currently in CR. The occurrence of therapy related acute leukemia after successful therapy for APL is an emerging problem.

Publication types

Case Reports

MeSH terms

Antineoplastic Agents / adverse effects*
Chromosomes, Human, Pair 17*
Female
Humans
In Situ Hybridization, Fluorescence
Isochromosomes*
Karyotyping
Leukemia, Monocytic, Acute / chemically induced*
Leukemia, Promyelocytic, Acute / genetics*
Middle Aged
Neoplasm Proteins / genetics*
Nuclear Proteins / genetics
Oncogene Proteins, Fusion / genetics*
Promyelocytic Leukemia Protein
Receptors, Retinoic Acid / genetics*
Retinoic Acid Receptor alpha
Reverse Transcriptase Polymerase Chain Reaction
Transcription Factors / genetics
Translocation, Genetic
Tretinoin / adverse effects*
Tumor Suppressor Proteins

Substances

Antineoplastic Agents
Neoplasm Proteins
Nuclear Proteins
Oncogene Proteins, Fusion
Promyelocytic Leukemia Protein
RARA protein, human
Receptors, Retinoic Acid
Retinoic Acid Receptor alpha
Transcription Factors
Tumor Suppressor Proteins
promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein
PML protein, human
Tretinoin