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The impact of sensitive KIT D816V detection on recognition of Indolent Systemic Mastocytosis
- Source :
- Digital.CSIC. Repositorio Institucional del CSIC, instname
- Publication Year :
- 2015
- Publisher :
- Elsevier, 2015.
-
Abstract
- 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.
- Subjects :
- Male
Cancer Research
Pathology
D-HPLC
Bone Marrow
Cytology
Outpatient clinic
Sequencing
Systemic mastocytosis
Chromatography, High Pressure Liquid
Aged, 80 and over
Sanger sequencing
Reverse Transcriptase Polymerase Chain Reaction
Medicine (all)
KIT
Hematology
Middle Aged
Prognosis
Proto-Oncogene Proteins c-kit
Real-time polymerase chain reaction
D816V
Oncology
Monoclonal
symbols
Female
Real time PCR
Restriction fragment length polymorphism
Polymorphism, Restriction Fragment Length
Human
Adult
medicine.medical_specialty
Prognosi
Real-Time Polymerase Chain Reaction
Follow-Up Studie
Young Adult
symbols.namesake
Mastocytosis, Systemic
Biomarkers, Tumor
medicine
Humans
Point Mutation
RNA, Messenger
Aged
Cutaneous Mastocytosis
business.industry
medicine.disease
Systemic mastocytosi
business
Follow-Up Studies
Subjects
Details
- ISSN :
- 18735835 and 01452126
- Database :
- OpenAIRE
- Journal :
- Leukemia Research
- Accession number :
- edsair.doi.dedup.....f9263f9590484060eb6026e1aaee8394