Fluorescence in situ hybridization characterization of ider(20q) in myelodysplastic syndrome

被引：20

作者：

Douet-Guilbert, N. ^{[1
,2
,3
]}

Lai, J. L. ^{[4
,5
]}

Basinko, A. ^{[1
,2
]}

Gueganic, N. ^{[1
]}

Andrieux, J. ^{[4
,5
]}

Pollet, B. ^{[6
]}

Plantier, I.

Delattre, C.

Crepin, O.

Corm, S. ^{[7
]}

Le Bris, M. J. ^{[2
]}

Morel, F. ^{[1
,2
,3
]}

De Braekeleer, M. ^{[1
,2
,3
]}

机构：

[1] Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France

[2] CHU Brest, Hop Morvan, Serv Cytogenet Cytol & Biol Reprod, F-29285 Brest, France

[3] INSERM, U613, Brest, France

[4] CHRU Lille, Hop Jeanne Flandre, Med Genet Lab, Lille, France

[5] INSERM, U817, F-59045 Lille, France

[6] CH Boulogne Mer, Biol Lab, Boulogne, France

[7] CHRU Lille, Hop Claude Huriez, Serv Malad Sang, Lille, France

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2008年 / 143卷 / 05期

关键词：

isochromosome of deleted 20q; ider(20q); myelodysplastic syndrome; commonly retained region; commonly deleted region;

D O I：

10.1111/j.1365-2141.2008.07436.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Isochromosome of the long arm of chromosome 20 with loss of interstitial material [ider(20q)] is a variant of deletion of chromosome 20q and a rare abnormality in myelodysplastic syndrome (MDS). We studied seven cases with an ider(20q) in MDS. Fluorescence in situ hybridization (FISH) studies showed all proximal breakpoints to be consistently located in 20q11.21 band whereas distal breakpoints were variable. Amplification of HCK, TNFRSF6B and DIDO1 genes included in retained regions associated with loss of tumour suppressor genes in deleted regions could explain cell tumour progression and possibly the less favourable prognosis of ider(20q) compared with del(20q).

引用

页码：716 / 720

页数：5

共 11 条

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