der(17)t(17;17)(p13;q12-21)
2018-03-01 Adriana Zamecnikova Affiliation1.Kuwait Cancer Control Center, Kuwait [email protected]
Abstract
Rare translocation. Because of its rarity, the clinical significance of der(17)t(17;17)(p13;q12-21) is unknown.
Clinics and Pathology
Disease
Chronic myeloid leukemia (CML) and acute myeloid leukemia (AML)
Phenotype stem cell 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with T-ALL after 2 years of lentiviral hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome (Zamecnikova, unpublished data).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
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12203776 | 2002 | Multicolor COBRA-FISH analysis of chronic myeloid leukemia reveals novel cryptic balanced translocations during disease progression. | Barbouti A et al |
| 27318442 | 2016 | 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 et al |
| 3465376 | 1986 | Acute myelomonocytic leukemia with abnormal eosinophils and inv(16) or t(16;16) has a favorable prognosis. | Larson RA et al |
Summary
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).
Citation
Adriana Zamecnikova
der(17)t(17;17)(p13;q12-21)
Atlas Genet Cytogenet Oncol Haematol. 2018-03-01
Online version: http://atlasgeneticsoncology.org/haematological/1820/new-content/cancer-prone-explorer/humanGenome
