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WHO Classification of Tumours
Acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-RARA
Tumours of haematopoietic and lymphoid tissues


Definition

Acute promyelocytic leukaemia [APL or AML with t(15;17)(q22;q12)] is an AML in which abnormal promyelocytes predominate. Both hypergranular or "typical" APL and microgranular (hypogranular) types exist.

> Variant RARA translocations in acute leukaemia
A subset of cases, often with morpho­logical features resembling acute pro­myelo­cytic leukaemia, show variant trans­locations involving RARA. These variant fusion partners include ZBTB16(previously known as promyelocytic leukaemia zinc finger gene or PLZF) at 11q23; the nuclear matrix associated gene (NUMA1)at 11q13; the nucleo­phosmin gene (NPM1) 5q35 and STAT5Bat 17q11.2

Click to access Pubmed
Zelent A, Guidez F, Melnick A, Waxman S, Licht JD (2001)
Translocations of the RARalpha gene in acute promyelocytic leukemia.
Oncogene 20: 7186-203



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Some cases with variant translocations were initially reported as having APL morphology

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Sainty D, Liso V, Cantù-Rajnoldi A, Head D, Mozziconacci MJ, Arnoulet C, Benattar L, Fenu S, Mancini M, Duchayne E, Mahon FX, Gutierrez N, Birg F, Biondi A, Grimwade D, Lafage-Pochitaloff M, Hagemeijer A, Flandrin G (2000)
A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlying PLZF/RARA gene rearrangements. Group Français de Cytogénétique Hématologique, UK Cancer Cytogenetics Group and BIOMED 1 European Coomunity-Concerted Acion "Molecular Cytogenetic Diagnosis in Haematological Malignancies.
Blood 96: 1287-96



. However, the t(11;17) (q23;q12); ZBTB16-RARA subgroup shows some morphological differences with a predominance of cells with regular nuclei, many granules, usual absence of Auer rods, an increased number of Pelgeroid neutrophils and strong MPO activity
Click to access Pubmed
Sainty D, Liso V, Cantù-Rajnoldi A, Head D, Mozziconacci MJ, Arnoulet C, Benattar L, Fenu S, Mancini M, Duchayne E, Mahon FX, Gutierrez N, Birg F, Biondi A, Grimwade D, Lafage-Pochitaloff M, Hagemeijer A, Flandrin G (2000)
A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlying PLZF/RARA gene rearrangements. Group Français de Cytogénétique Hématologique, UK Cancer Cytogenetics Group and BIOMED 1 European Coomunity-Concerted Acion "Molecular Cytogenetic Diagnosis in Haematological Malignancies.
Blood 96: 1287-96



. The initial cases of APL associated with t(5;17)(q35;q12) had a predominant population of hypergranular promyelocytes and a minor population of hypogranular promyelocytes; Auer rods were not identified by light microscopy
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Corey SJ, Locker J, Oliveri DR, Shekhter-Levin S, Redner RL, Penchansky L, Gollin SM (1994)
A non-classical translocation involving 17q12 (retinoic acid receptor alpha) in acute promyelocytic leukemia (APML) with atypical features.
Leukemia 8: 1350-3



. Some acute promyelocytic leukaemia variants, including t(11;17)(q23;q12) with ZBTB16-RARA and cases with STAT5B-RARA ­fusions are resistant to ATRA
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Melnick A, Licht JD (1999)
Deconstructing a disease: RARalpha, its fusion partners, and their roles in the pathogenesis of acute promyelocytic leukemia.
Blood 93: 3167-215



. APL with the t(5;17)(q35;q12) appears to respond to ATRA
Click to access Pubmed
Melnick A, Licht JD (1999)
Deconstructing a disease: RARalpha, its fusion partners, and their roles in the pathogenesis of acute promyelocytic leukemia.
Blood 93: 3167-215



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Cases with these variant translocations should be diagnosed as AML with a variant RARA translocation.

> Related Topics
Overview: AML with balanced translocations/inversions
Overview: AML with gene mutations
Introduction: Myeloid Neoplasms