The impact of sensitive KIT D816V detection on recognition of Indolent Systemic Mastocytosis

被引：18

作者：

De Matteis, Giovanna ^{[1
,2
]}

Zanotti, Roberta ^{[2
,3
]}

Colarossi, Sabrina ^{[4
]}

De Benedittis, Caterina ^{[4
]}

Garcia-Montero, Andres ^{[5
,6
,7
]}

Bonifacio, Massimiliano ^{[2
,3
]}

Sartori, Marta ^{[1
]}

Aprili, Fiorenza ^{[1
]}

Caruso, Beatrice ^{[1
]}

Paviati, Elisa ^{[1
]}

Carli, Giuseppe ^{[2
,3
]}

Perbellini, Omar ^{[2
,3
]}

Zamo, Alberto ^{[8
]}

Bonadonna, Patrizia ^{[2
,9
]}

Pizzolo, Giovanni ^{[2
]}

Guidi, Giancesare ^{[1
]}

Martinelli, Giovanni ^{[4
]}

Soverini, Simona ^{[4
]}

机构：

[1] Univ Verona, Dept Life & Reprod Sci, Clin Biochem Sect, I-37100 Verona, Italy

[2] Multidisciplinary Outpatients Clin Mastocytosis, Verona, Italy

[3] Univ Verona, Dept Med, Sect Haematol, I-37100 Verona, Italy

[4] Univ Bologna, Dept Haematol & Oncol, Bologna, Italy

[5] Spanish Network Mastocytosis REMA, Salamanca, Spain

[6] Univ Salamanca, Dept Med, Ctr Invest Canc IBMCC USAL CSIC, E-37008 Salamanca, Spain

[7] Univ Salamanca, Serv Gen Citometria, IBSAL, E-37008 Salamanca, Spain

[8] Univ Verona, Sect Pathol Anat, I-37100 Verona, Italy

[9] Azienda Osped Univ Integrata, Allergy Unit, Verona, Italy

来源：

LEUKEMIA RESEARCH | 2015年 / 39卷 / 03期

关键词：

Systemic mastocytosis; KIT; D816V; Real time PCR; D-HPLC; Sequencing; MAST-CELL DISORDERS; POLYMERASE-CHAIN-REACTION; C-KIT; BONE-MARROW; CONSENSUS STATEMENTS; MOLECULAR DIAGNOSIS; MUTATION ANALYSIS; DISEASE; ANAPHYLAXIS; STANDARDS;

D O I：

10.1016/j.leukres.2014.11.029

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test for D816V detection of the KIT receptor gene. Along with histology/cytology and flow cytometry evaluation, bone marrow (BM) from 110 consecutive adult patients referred with a suspicion of SM to Multidisciplinary Outpatient Clinic for Mastocytosis in Verona were tested both by Amplification Refractory Mutation System Reverse Transcriptase quantitative real time Polymerase Chain Reaction (ARMS-RT-qPCR) and RT-PCR + Restriction Fragment Length Polymorphism (RFLP) followed by Denaturing-High Performance Liquid Chromatography (D-HPLC) and Sanger sequencing. ARMS-RT-qPCR identified D816V mutation in 77 patients, corresponding to 100% of cases showing CD25(+) mast cells (MCs) whereas RT-PCR + RFLP/D-HPLC + sequencing revealed D816V mutations in 47 patients. According to the 2008 WHO criteria 75 SM, 1 Cutaneous Mastocytosis (CM), 1 monoclonal MC activation syndrome (MMAS), and 1 SM Associated with Haematologic Non-Mast Cell Disorder (SM-AHNMD) were diagnosed. Seventeen out 75 SM patients (23%) would have not satisfied sufficient WHO criteria on the basis of the sole RT-PCR + RFLP: these patients had significantly lower serum tryptase levels and amount of CD25+ MCs. Therefore, ARMS-RT-qPCR might result particularly useful, in patients that do not fulfil major BM histological criterion, for the recognition of indolent SM with a very low MC burden. (C) 2014 Elsevier Ltd. All rights reserved.

引用

页码：273 / 278

页数：6

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