| Written | 2018-03 | Adriana Zamecnikova |
| Kuwait Cancer Control Center, Kuwait annaadria@yahoo.com |
| 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. |
| Identity |
| 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with T-ALL after 2 years of lentiviral hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome (Zamecnikova, unpublished data).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 |
| 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 |
| 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. |
| Bibliography |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Zamecnikova A |
| der(17)t(17;17)(p13;q12-21); |
| Atlas Genet Cytogenet Oncol Haematol. in press |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t1717p13q12_21ID1820.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(17;17)(p13;q12-21) | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Aug 16 12:54:04 CEST 2018 |
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