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2 results on '"Paviati, Elisa"'

1. The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis.

Author

De Matteis G, Zanotti R, Colarossi S, De Benedittis C, Garcia-Montero A, Bonifacio M, Sartori M, Aprili F, Caruso B, Paviati E, Carli G, Perbellini O, Zamò A, Bonadonna P, Pizzolo G, Guidi G, Martinelli G, and Soverini S

Subjects
Adult, Aged, Aged, 80 and over, Bone Marrow metabolism, Chromatography, High Pressure Liquid, Female, Follow-Up Studies, Humans, Male, Mastocytosis, Systemic blood, Middle Aged, Polymorphism, Restriction Fragment Length, Prognosis, RNA, Messenger genetics, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Young Adult, Biomarkers, Tumor genetics, Bone Marrow pathology, Mastocytosis, Systemic diagnosis, Mastocytosis, Systemic genetics, Point Mutation genetics, Proto-Oncogene Proteins c-kit genetics
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., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Published
2015
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2. The impact of sensitive KIT D816V detection on recognition of Indolent Systemic Mastocytosis

Author

Fiorenza Aprili, Elisa Paviati, Alberto Zamò, Giovanni Pizzolo, Giovanna De Matteis, Massimiliano Bonifacio, Giuseppe Carli, Marta Sartori, Andrés C. García-Montero, Gian Cesare Guidi, Giovanni Martinelli, Simona Soverini, Roberta Zanotti, Omar Perbellini, Caterina De Benedittis, Patrizia Bonadonna, Beatrice Caruso, Sabrina Colarossi, De Matteis, Giovanna, Zanotti, Roberta, Colarossi, Sabrina, De Benedittis, Caterina, Garcia-Montero, Andrè, Bonifacio, Massimiliano, Sartori, Marta, Aprili, Fiorenza, Caruso, Beatrice, Paviati, Elisa, Carli, Giuseppe, Perbellini, Omar, Zamò, Alberto, Bonadonna, Patrizia, Pizzolo, Giovanni, Guidi, Giancesare, Martinelli, Giovanni, and Soverini, Simona

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
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.

Published
2015

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