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der(8;17)(q10;q10)

Written2018-08Jean-Loup Huret
jean-loup.huret@atlasgeneticsoncology.org

Abstract Review on der(8;17)(q10;q10), with data on clinics.

Keywords Chromosome 8; chromosome 17; TP53 deletion; Chronic lymphocytic leukemia; B-prolymphocytic leukemia; Waldenstrom macroglobulinemia; Acute myeloblastic leukemia.

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Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9873/3 AML without maturation
ICD-Morpho 9874/3 AML with maturation
ICD-Morpho 9823/3 Chronic lymphocytic leukaemia /small lymphocytic lymphoma
ICD-Morpho 9833/3 B-cell prolymphocytic leukaemia
ICD-Morpho 9761/3 Waldenstrom macroglobulinemia
Atlas_Id 1801

Clinics and Pathology

Disease Lymphoid and myeloid malignancies. All lymphoid cases were B Lineage. There were 5 cases of chronic lymphocytic leukemia (CLL) (Döhner et al., 1995; Geisler et al., 1997; Adeyinka et al., 2007; Tang et al., 2013), 1 case of B-prolymphocytic leukemia (Schlette et al., 2001), and 1 case of Waldenstrom macroglobulinemia (Wong 2003). There were also 2 myeloid cases; one acute myeloblastic leukemia without maturation (M1-AML) and one acute myeloblastic leukemia with maturation (M2-AML) (respectively Kim et al., 2001 and Mrózek et al., 2002).
Note der(8;17)(q10;q10) is also a recurrent abnormality in adenocarcinoma of the large intestine.
Epidemiology The 5 chronic lymphocytic leukemia cases were male patients, aged 50, 84, 92, ?, ?. The B-prolymphocytic leukemia case was a male patient, the Waldenstrom case a female patient aged 80 years, the AMLs cases a male and a female patient aged 68 years.
Prognosis In only one chronic lymphocytic leukemia case was the survival noted: 52 months of treatment-free survival (Tang et al., 2013).

Cytogenetics

Note A der(8;17)(q10;q10) is an unbalanced translocation, with 8p and 17 deletions.
Cytogenetics Morphological The der(8;17)(q10;q10) was the sole abnormality in 2 CLL cases, and the sole abnormality within a sideline in the Waldenstrom case (an i(17q) was found in another subclone). A t(14;18)(q32;q21) was present in 2 CLL cases; +12, del(13q), and a complex karyotype were found in 1 CLL case each. The B-prolymphocytic leukemia also had del(7q), del(11q). The 2 AMLs had a del(5q), and a complex karyotype, the M1-AML also presented with del(3p), and the M2-AML with t(10;16)(q22;p13) KAT6B/CREBBP, +19.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Genes implicated in oncogenesis in these cases are unknown. Nevertheless it should be noted that the chromosome abnormality results in TP53 deletion.
  

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

Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies.
Adeyinka A, Wei S, Sanchez J.
Cancer Genet Cytogenet. 2007 Mar;173(2):136-43.
PMID 17321329
 
p53 gene deletion predicts for poor survival and non-response to therapy with purine analogs in chronic B-cell leukemias.
Döhner H, Fischer K, Bentz M, Hansen K, Benner A, Cabot G, Diehl D, Schlenk R, Coy J, Stilgenbauer S, et al.
Blood. 1995 Mar 15;85(6):1580-9.
PMID 7888675
 
In B-cell chronic lymphocytic leukaemia chromosome 17 abnormalities and not trisomy 12 are the single most important cytogenetic abnormalities for the prognosis: a cytogenetic and immunophenotypic study of 480 unselected newly diagnosed patients.
Geisler CH, Philip P, Christensen BE, Hou-Jensen K, Pedersen NT, Jensen OM, Thorling K, Andersen E, Birgens HS, Drivsholm A, Ellegaard J, Larsen JK, Plesner T, Brown P, Andersen PK, Hansen MM.
Leuk Res. 1997 Nov-Dec;21(11-12):1011-23.
PMID 9444933
 
The application of comparative genomic hybridization as an additional tool in the chromosome analysis of acute myeloid leukemia and myelodysplastic syndromes.
Kim MH, Stewart J, Devlin C, Kim YT, Boyd E, Connor M.
Cancer Genet Cytogenet. 2001 Apr 1;126(1):26-33.
PMID 11343775
 
Spectral karyotyping in patients with acute myeloid leukemia and a complex karyotype shows hidden aberrations, including recurrent overrepresentation of 21q, 11q, and 22q.
Mrózek K, Heinonen K, Theil KS, Bloomfield CD.
Genes Chromosomes Cancer. 2002 Jun;34(2):137-53.
PMID 11979548
 
Mature B-cell leukemias with more than 55% prolymphocytes. A heterogeneous group that includes an unusual variant of mantle cell lymphoma.
Schlette E, Bueso-Ramos C, Giles F, Glassman A, Hayes K, Medeiros LJ.
Am J Clin Pathol. 2001 Apr;115(4):571-81.
PMID 11293906
 
Chronic lymphocytic leukemia with t(14;18)(q32;q21).
Tang G, Banks HE, Sargent RL, Medeiros LJ, Abruzzo LV.
Hum Pathol. 2013 Apr;44(4):598-605. doi: 10.1016/j.humpath.2012.07.005. Epub 2012 Oct 16.
PMID 23084581
 
Waldenström macroglobulinemia with a novel der(8;17)(q10;q10).
Wong KF.
Cancer Genet Cytogenet. 2003 Feb;141(1):83-5. Review.
PMID 12581904
 

Citation

This paper should be referenced as such :
Huret JL
der(8;17)(q10;q10);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/der0817q10q10ID1801.html


Translocations implicated (Data extracted from papers in the Atlas)

 der(8;17)(q10;q10)

External links

Mitelman databaseder(8;17)(q10;q10) [Case List]    der(8;17)(q10;q10) [Transloc-MCList]
arrayMap (UZH-SIB Zurich)Morph ( 9873/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9874/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9823/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9833/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9761/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
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