9866/3 Acute promyelocytic leukemia, NOS



Definitions

Tumours of haematopoietic and lymphoid tissues
ICD-O-3 topography code: C42 and C77
ICD10: C92.4
           

/span>cute 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 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 nucleo?phosmin gene (NPM1) 5q35 and STAT5Bat 17q11.2 1
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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
2
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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 3
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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



. 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 4
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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 5
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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 6
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



.

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

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