Combination of broad molecular screening and cytogenetic analysis for genetic risk assignment and diagnosis in patients with acute leukemia

被引：11

作者：

Meyer-Monard, S

Parlier, V

Passweg, J

Mühlematter, D

Hess, U

Bargetzi, M

Kühne, T

Cabrol, C

Gratwohl, A

Jotterand, M

Tichelli, A

机构：

[1] Univ Basel Hosp, Dept Cent Labs, CH-4031 Basel, Switzerland

[2] CHU Vaudois, Unite Cytogenet Canc, Lausanne, Switzerland

[3] Kantonsspital, Dept Oncol, St Gallen, Switzerland

[4] Kantonsspital, Ctr Oncol Hematol & Transfus Med, Aarau, Switzerland

[5] Univ Basel, Childrens Hosp, Dept Hematol Oncol, Basel, Switzerland

[6] Univ Hosp Geneva, Dept Hematol, Lab Cytogenet, Geneva, Switzerland

来源：

LEUKEMIA | 2006年 / 20卷 / 02期

关键词：

cytogenetics; broad molecular screening; leukemia; diagnosis; genetic risk assignment;

D O I：

10.1038/sj.leu.2404044

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We evaluated the impact of genetic analysis combining cytogenetics and broad molecular screening on leukemia diagnosis according to World Health Organization ( WHO) and on genetic risk assignment. A two-step nested multiplex RT-PCR assay was used that allowed the detection of 29 fusion transcripts. A total of 186 patients ( 104 males (56%), 174 adults (94%), 12 children (6%), 155 AML (83%), 31 ALL (17%)) characterized by morphology and immunophenotyping were included. Of these 186 patients, 120 (65%) had a genetic abnormality. Molecular typing revealed a fusion transcript in 49 (26%) patients and cytogenetic analysis revealed an abnormal karyotype in 119 (64%). A total of 27 (14%) cases were genetically classified as favorable, 107 (58%) intermediate and 52 (28%) unfavorable. For 38 (20%) patients, there was a discrepancy in the genetic risk assignments obtained from broad molecular screening and cytogenetics. Cryptic fusion transcripts in nine (5%) patients changed the genetic risk assignment in four and the WHO classification in four patients. In 34 patients (18%), cytogenetics defined the risk assignment by revealing structural and numerical chromosomal abnormalities not detected by molecular screening. Broad molecular screening and cytogenetics are complementary in the diagnosis and genetic risk assignment of acute leukemia.

引用

页码：247 / 253

页数：7

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