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

Written2016-12Adriana Zamecnikova, Soad al Bahar
Kuwait Cancer Control Center, Department of Hematology

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

Keywords Chromosome 5; chromosome 17; Myelodysplastic syndrome; Acute myelomonocytic leukaemia

(Note : for Links provided by Atlas : click)


ICD-Topo C420,C421,C424
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
ICD-Morpho 9867/3 Acute myelomonocytic leukaemia
Atlas_Id 1777
  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.

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al., 1992), and a 64-years old female diagnosed with acute myelomonocytic leukemia (AML-M4) (Zamecnikova and al Bahar, unpublished case).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 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

Fusion Protein
Oncogenesis Unknown.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Two karyotypically unrelated clones with the t(5;17) and deletion of 5q in myelodysplastic syndrome.
Novak A, Jankovic G, Rolovic Z.
Cancer Genet Cytogenet 1992 Aug;62(1):100-2.
PMID 1521224


This paper should be referenced as such :
Zamecnikova A, al Bahar S
t(5;17)(q35;q21) without RARA involvement in non-M3 AML;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(5;17)(q35;q21)
arrayMap (UZH-SIB Zurich)Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9867/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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