NCCN临床实践指南_系统性肥大细胞增多症（2019.V1）英文版

NCCN Clinical Practice Guidelines in Oncology NCCN Guidelines Continue Version 1 2019 09 07 18 National Comprehensive Cancer Network Inc 2018 All rights reserved The NCCN Guidelines and this illustration may not be reproduced in any form without the express written permission of NCCN Systemic Mastocytosis Version 1 2019 September 7 2018 NCCN org NCCN Guidelines Index Table of Contents Discussion Version 1 2019 09 07 18 National Comprehensive Cancer Network Inc 2018 All rights reserved The NCCN Guidelines and this illustration may not be reproduced in any form without the express written permission of NCCN NCCN Guidelines Version 1 2019 Panel Members Systemic Mastocytosis NCCN Mary Anne Bergman Hema Sundar PhD NCCN Guidelines Panel Disclosures Continue Aaron T Gerds MD MS Chair Case Comprehensive Cancer Center University Hospitals Seidman Cancer Center and Cleveland Clinic Taussig Cancer Institute Jason Gotlib MD MS Vice Chair Stanford Cancer Institute Prithviraj Bose MD The University of Texas MD Anderson Cancer Center Mariana C Castells MD PhD Adjunct Dana Farber Cancer Institute Michael W Deininger MD PhD Huntsman Cancer Institute at the University of Utah Ivana Gojo MD The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins Krishna Gundabolu MBBS Fred see 2017 WHO Diagnostic Criteria for Cutaneous and Systemic Mastocytosis SM B and see 2017 Diagnostic Criteria for the Variants of Systemic Mastocytosis SM C bPatients should be counseled about the signs symptoms and potential triggers of mast cell activation See SM H Multidisciplinary collaboration with sub specialists eg anesthesia for procedures surgery high risk OB for pregnancy is recommended cSerum tryptase level may be 20 ng mL or only transiently elevated dSee WHO Criteria for B Findings and C Findings in Patients with Systemic Mastocytosis SM D and IWG MRT ECNM Criteria for Eligible Organ Damage to Assess Clinical Improvement CI and Treatment Response SM E B and C findings are used for the diagnosis of the WHO subtype of SM SM C and SM D and IWG MRT ECNM criteria are used to establish eligible organ damage findings for clinical trial enrollment and to adjudicate response to therapy SM E eMast cell markers by flow cytometry immunophenotyping include CD117 CD25 and CD2 Immunohistochemistry markers include CD117 CD25 and tryptase For both techniques CD30 is optional Also see SM 2 fSpecific criteria have been established for primary and secondary MCAS Akin C Mast cell activation syndromes J Allergy Clin Immunol 2017 140 349 355 Primary MCAS has also been referred to as monoclonal mast cell activation syndrome MMAS See Discussion gHereditary alpha tryptasemia is a multi system disorder characterized by duplications and triplications in the TPSAB1 gene encoding a tryptase associated with elevation of the basal serum tryptase level and symptoms including cutaneous flushing and pruritus dysautonomia functional gastrointestinal symptoms chronic pain and connective tissue abnormalities including joint hypermobility Lyons JJ Yu X Hughes JD et al Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number Nat Genet 2016 48 1564 1569 hManagement of cutaneous mastocytosis is not included in these guidelines Referral to centers with expertise in cutaneous mastocytosis is strongly recommended DIAGNOSTIC ALGORITHM FOR THE PATIENT PRESENTING WITH SIGNS OR SYMPTOMS OF MASTOCYTOSISa Adapted from Pardanani A Systemic mastocytosis in adults 2017 update on diagnosis risk stratification and management Am J Hematol 2016 91 1146 1159 Suspected mast cell activation symptomsb or anaphylaxis and or increased serum tryptase levelc no mastocytosis in the skin MIS B or C findings d or abnormal blood counts OR Adult onset MIS Evaluation for systemic mastocytosis SM Bone marrow biopsy or biopsy of organ with suspected extracutaneous involvement Molecular testing for KIT D816V See SM 2 if needed additional KIT gene sequencing Mast cell immunophenotyping using flow cytometry and or immunohistochemistrye Screen for FIP1L1 PDGFRA if eosinophilia is present 25 of the mast cells in the infiltrate are spindle shaped or have atypical morphology or 25 of all mast cells in bone marrow aspirate smears are immature or atypical 2 Detection of an activating point mutation at codon 816 of KIT in the bone marrow blood or another extracutaneous organ 3 Mast cells in bone marrow blood or other extracutaneous organs express CD25 with or without CD2 in addition to normal mast cell markers b 4 Serum total tryptase persistently 20 ng ml unless there is an associated myeloid neoplasm in which case this parameter is not valid Printed by Maria Chen on 9 12 2018 9 50 07 PM For personal use only Not approved for distribution Copyright 2018 National Comprehensive Cancer Network Inc All Rights Reserved NCCN Guidelines Index Table of Contents Discussion Version 1 2019 09 07 18 National Comprehensive Cancer Network Inc 2018 All rights reserved The NCCN Guid