European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms

被引：101

作者：

Rack, K. A. ^{[1
]}

van den Berg, E. ^{[2
]}

Haferlach, C. ^{[3
]}

Beverloo, H. B. ^{[4
]}

Costa, D. ^{[5
]}

Espinet, B. ^{[6
]}

Foot, N. ^{[7
]}

Jeffries, S. ^{[8
]}

Martin, K. ^{[9
]}

O'Connor, S. ^{[10
]}

Schoumans, J. ^{[11
]}

Talley, P. ^{[10
]}

Telford, N. ^{[12
]}

Stioui, S. ^{[13
]}

Zemanova, Z. ^{[14
,15
]}

Hastings, R. J. ^{[16
]}

机构：

[1] Oxford Univ Hosp NHS Trust, John Radcliffe Hosp, GenQA, Oxford, England

[2] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[3] MLL Munich Leukemia Lab, Munich, Germany

[4] Erasmus MC, Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands

[5] Hosp Clin Barcelona, Hematopathol Sect, Barcelona, Spain

[6] IMIM Hosp del Mar, Lab Citogenet Mol, Grp Recerca Translac Neoplasies Hematol, Serv Patol,Canc Res Program, Barcelona, Spain

[7] Guys Hosp, Viapath Genet Labs, London, England

[8] Birmingham Womens Hosp, West Midlands Reg Genet Lab, Birmingham, W Midlands, England

[9] Nottingham Univ Hosp, Dept Cytogenet, Nottingham, England

[10] St James Univ Hosp, Haematol Malignancy Diagnost Serv, Leeds, W Yorkshire, England

[11] Lausanne Univ Hosp, Hematol Dept, Oncogenom Lab, Vaudois, Switzerland

[12] Christie NHS Fdn Trust, Oncol Cytogenet Serv, Manchester, Lancs, England

[13] Humanitas Res Hosp, Lab Citogenet & Genet Mol, Lab Anal, Milan, Italy

[14] Charles Univ Prague, Prague Ctr Oncocytogenet, Inst Clin Biochem & Lab Diagnost, Gen Univ Hosp, Prague, Czech Republic

[15] Charles Univ Prague, Fac Med 1, Prague, Czech Republic

[16] Oxford Univ Hosp NHS Trust, John Radcliffe Hosp, GenQA, Oxford, England

来源：

LEUKEMIA | 2019年 / 33卷 / 08期

关键词：

CHRONIC LYMPHOCYTIC-LEUKEMIA; IN-SITU HYBRIDIZATION; PROGNOSTIC SCORING SYSTEM; CHRONIC MYELOID-LEUKEMIA; PRIMARY MYELODYSPLASTIC SYNDROMES; CYTOGENETIC-RISK CATEGORIZATION; CHRONIC MYELOGENOUS LEUKEMIA; ACUTE LYMPHOBLASTIC-LEUKEMIA; INTERPHASE FISH; PRIMARY MYELOFIBROSIS;

D O I：

10.1038/s41375-019-0378-z

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Cytogenomic investigations of haematological neoplasms, including chromosome banding analysis, fluorescence in situ hybridisation (FISH) and microarray analyses have become increasingly important in the clinical management of patients with haematological neoplasms. The widespread implementation of these techniques in genetic diagnostics has highlighted the need for guidance on the essential criteria to follow when providing cytogenomic testing, regardless of choice of methodology. These recommendations provide an updated, practical and easily available document that will assist laboratories in the choice of testing and methodology enabling them to operate within acceptable standards and maintain a quality service.

引用

页码：1851 / 1867

页数：17

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