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Written2018-03Adriana Zamecnikova
Kuwait Cancer Control Center, Kuwait

Abstract Rare translocation. Because of its rarity, the clinical significance of der(17)t(17;17)(p13;q12-21) is unknown.

Keywords Unbalanced rearrangements, der(17)t(17;17)(p13;q12-21), myeloid malignancies, genomic unbalances.

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ICD-Topo C420,C421,C424
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1820
  Partial karyotypes (A) and karyotype showing the unbalanced rearrangement between chromosomes 17 (B). Fluorescence in situ hybridization with LSI ATM/P53 probe (Abott Molecular/Vysis, US) showing the presence of P53 gene on normal and der(17) chromosomes (A). Hybridization with LSI RARA break-apart probes revealed 3 copies of the gene, confirming the extra 17q on derivative chromosome 17 (B).

Clinics and Pathology

Disease Chronic myeloid leukemia (CML) and acute myeloid leukemia (AML)
Phenotype / cell stem origin 1 acute myeloid leukemia (Huh et al., 2016), 1 chronic myeloid leukemia (Barbouti et al., 2002) and the present patient diagnosed with T-ALL after 2 years of lentiviral hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome (Zamecnikova, unpublished data). In addition, there was an acute myelomonocytic leukemia (AML-M4) patient with der(17)t(17;17)(p13;q2?1) breakpoints (Larson et al., 1986).
Epidemiology Only 4 cases, to date, 3 male patients, aged 60, 76 and years and the present 14 years old female patient with Wiskott-Aldrich syndrome.


Cytogenetics Morphological Presents as 1 normal chromosome 17 and a der(17)t(17;17) chromosome.
Additional anomalies Sole anomaly in the present patient; found in association with +6 and 15-100dmin in AML, as an additional anomaly to -Y, t(9;22)(q34;q11) in CML and to inv(16)(p13q22),+22 in CC: TXT: AML-M4 ID: 1506>.

Genes involved and Proteins

Note The involvement of RARA and the presence/deletion of TP53 from 17p13.1 was not tested in described cases.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis The unbalanced der(17)t(17;17)(p13;q12-21) has been found mainly as an additional aberration to known primary anomalies, therefore it is probably involved in disease evolution. The formation of the unbalanced der(17)t(17;17)(p13;q12-21) results in partial trisomy of the long arm of chromosome 17 leading to trisomies of genes located on 17q. Potential candidate genes on 17q include RARA, NF1, CSF3 (G-CSF), MPO, ERBB2 and miRNAs. Extra copies of these genes may lead to alterations of gene expression that may play roles during disease development or progression.

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.


Multicolor COBRA-FISH analysis of chronic myeloid leukemia reveals novel cryptic balanced translocations during disease progression.
Barbouti A, Johansson B, Höglund M, Mauritzson N, Strömbeck B, Nilsson PG, Tanke HJ, Hagemeijer A, Mitelman F, Fioretos T.
Genes Chromosomes Cancer 2002 Oct;35(2):127-37.
PMID 12203776
Double minute chromosomes in acute myeloid leukemia, myelodysplastic syndromes, and chronic myelomonocytic leukemia are associated with micronuclei, MYC or MLL amplification, and complex karyotype.
Huh YO, Tang G, Talwalkar SS, Khoury JD, Ohanian M, Bueso-Ramos CE, Abruzzo LV.
Cancer Genet 2016 Jul-Aug;209(7-8):313-20.
PMID 27318442
Acute myelomonocytic leukemia with abnormal eosinophils and inv(16) or t(16;16) has a favorable prognosis.
Larson RA, Williams SF, Le Beau MM, Bitter MA, Vardiman JW, Rowley JD.
Blood 1986 Dec;68(6):1242-9.
PMID 3465376


This paper should be referenced as such :
Adriana Zamecnikova
Atlas Genet Cytogenet Oncol Haematol. 2019;23(8):234-235.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(17;17)(p13;q12-21)
arrayMap (UZH-SIB Zurich)Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
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