t(5;17)(q35;q21) without RARA involvement in non-M3 AML

2016-12-01   Soad Al Bahar , Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Department of Hematology annaadria@yahoo.com

Abstract

Review on t(5;17)(q35;q21) without RARA involvement, with data on clinics.

Clinics and Pathology

Disease

Myeloid malignancy

Epidemiology

Only 2 cases: 1 reported case, a 40-years old female with primary myelodysplastic syndrome (Novak et al., 1992), and a 64-years old female diagnosed with acute myelomonocytic leukemia (AML-M4) (Zamecnikova and al Bahar, unpublished case).

Clinics

The 64-years old female presented with WBC 54.7 109/L, anemia (Hb 5.7 g/dL), marked thrombocytopenia (29x109/L) and 50% blasts. Remission was obtained with chemotherapy after 1 month, followed by relapse 4 month later. At this time her CBC showed a hemoglobin level of 87.0 g/L, a platelet count of 25 x109/L and a WBC count of 18.7/x109/L, with 9% segmental neutrophils, 14% lymphocytes and 77% monocytes.

Prognosis

Unknown.

Cytogenetics

Cytogenetics morphological

The appearance of the translocation resembles the non-random t(5;17)(q35;q21) involving the NPM1 and RARA genes, described in acute promyelocytic leukemia.

Additional anomalies

Two karyotypically independent clones, a clone with interstitial deletion of the long arm of chromosome 5 and a second clone with a reciprocal t(5;17)(q35;q21) in the case described by Novak et al., 1992. Sole anomaly observed in 15 out of 20 examined metaphases at dignosis as well as at relapse in the unpublished case.

Result of the Chromosomal Anomaly

Oncogenesis

Unknown.

Bibliography

Pubmed IDLast YearTitleAuthors
15212241992Two karyotypically unrelated clones with the t(5;17) and deletion of 5q in myelodysplastic syndrome.Novak A et al

Summary

Atlas Image
Figure 1. (A) Partial karyotypes showing the reciprocal t(5;17)(q35;q21). (B) Fluorescence in situ hybridization (FISH) with WCP probes of chromosomes 5, and 17 (MetaSystem, Germany) in different color combinations showing a translocation of 17q sequences to der(5) chromosome. (C) FISH with PDGFRB (5q32-q33) break-apart and p53/CEP17 Vysis (Abott Molecular, USA) probes showing 1 signal for p53/CEP17 one on the shortened chromosome 17 and the residing of not rearranged PDGFRB signals on der(5), indicative of translocation breakpoints distal to 5q33. (D) Combined hybridization with WCP 5 (MetaSystem, Germany) and LSI RARA (Vysis (Abott Molecular, US) probes showing the undisrupted RARA gene on 17q21 (inset) indicative of translocation breakpoints distal RARA.

Citation

Soad Al Bahar ; Adriana Zamecnikova

t(5;17)(q35;q21) without RARA involvement in non-M3 AML

Atlas Genet Cytogenet Oncol Haematol. 2016-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1777/t(5;17)(q35;q21)-without-rara-involvement-in-non-m3-aml

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