Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB)

被引：5

作者：

Calabrese, G

Fantasia, D

Morizio, E

Toro, PM

Franchi, PG

Fornaro, A

Spadano, A

Stuppia, L

Palka, G

机构：

[1] Univ G DAnnunzio, Dipartimento Sci Biomed, Sez Genet Med, Chieti, Italy

[2] Serv Genet Umana, Chieti, Italy

[3] Osped Civile Pescara, Dipartimento Ematol, Chieti, Italy

[4] CNR, Ist Citomorfol N&P, Chieti, Italy

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2003年 / 122卷 / 05期

关键词：

spectral karyotyping; MLL; specific amplification; overexpression;

D O I：

10.1046/j.1365-2141.2003.04493.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A patient with refractory anaemia with excess of blasts (RAEB) had a complex karyotype with multiple markers. Spectral karyotyping (SKY) showed rearrangements including three different der(11), containing a very high number of MLL gene copies, shown by fluorescence in situ hybridization (FISH) analysis. Fibre-FISH experiments disclosed the presence of chromatin fibres with multiple MLL copies with a head-to-tail pattern. Apparently, no other region flanking the MLL site was present in the three der(11). MLL amplification was confirmed by the reverse transcription polymerase chain reaction (RT-PCR). The patient died 6 months after diagnosis, supporting the severe prognosis of sole MLL amplification.

引用

页码：760 / 763

页数：4

共 12 条

[1] Complex chromosome translocations of standard t(8;21) and t(15;17) arise from a two-step mechanism as evidenced by fluorescence in situ hybridization analysis [J].