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Special Edition the Mastocytosis Society Chronicles 2014-15 Health Care Professionals SPECIAL EDITION THE MASTOCYTOSIS SOCIETY CHRONICLES What’s Inside... Mast Cell Disorders: Mastocytosis Mast Cell Disorders ................... 01, 03-10 and Mast Cell Activation Syndromes By Valerie Slee, RN, BSN and Susan Jennings, PhD TMS Board of Directors ......................... 02 TMS Survey .......................................... 10 Overview ICD-10 Progress Report ........................ 11 Mast cell disorders can cause Pediatric Fact Sheet ........................ 12, 13 tremendous suffering and disability History of TMS ...................................... 14 due to symptomatology from daily mast cell (MC) mediator release, Emergency Care Brochure .............. 15, 16 and/or symptoms arising from Visual Guide to Skin Manifestations .. 17-20 infiltration and accumulation of Systemic Mastocytosis Brochure ..... 21, 22 mast cells in major organ systems. The two major forms of mast cell TMS Annual Conference Order Form ..... 23 disorders are mastocytosis and mast Mast Cell photo provided Medical & Research Centers ........... 24, 25 cell activation syndromes (MCAS), By Mariana Castells, MD, PhD Medical Advisory Board although it is important to note that Contact Information ........................ 26, 27 the process of mast cell activation can occur with both mastocytosis and with Printed Material Order Forms ..........28, 29 MCAS.1 Although systemic mastocytosis is a rare disease,2 those suffering Medical Resources ......................... 30, 31 with MCAS have recently been increasingly recognized and diagnosed. As a result, patients with MCAS appear to represent a growing proportion of the 2014 Supporting Members.................... 32 mast cell disorder patient population.3, 4 Support Groups .................................... 33 Membership Application ................. 34, 35 MASTOCYTOSIS Definition Mastocytosis has been defined in the literature as an abnormal accumulation of mast cells in one or more organ systems. Broadly separated into two categories – cutaneous mastocytosis (CM) and systemic mastocytosis (SM), the disease occurs in both children and adults. CM is considered a benign skin disease representing the majority of pediatric cases. In 67-80% of pediatric cases seen, resolution will occur before or during puberty.5, 6 In pediatric cases, symptoms of mast cell mediator release may occur systemically as a result of mast cell mediators released from skin lesions. This, however, does not necessarily indicate systemic disease. The incidence of systemic disease in children was previously unknown, but has now been proven to exist in some cases.5, 6 The majority of adult patients are diagnosed with systemic disease. Skin involvement, typically urticaria pigmentosa, is common in adult patients © 2014 The Mastocytosis Society, Inc. and can provide an important clue to accurate diagnosis.7 All rights reserved … Continued on page 3 RESEARCH + EDUCATION + ADVOCACY Special Edition Board of Directors Valerie M. Slee RN, BSN: Chair For Health Care Professionals Medical Advisory Board Liaison Patient Referral Coordinator The Mastocytosis Chronicles is distributed to the members of the [email protected] Mastocytosis Society, Inc. on a quarterly basis, in early February, Rita Barlow: Vice Chair May, August, and mid-to late November. Patient Support and Advocacy [email protected] This special edition of The Mastocytosis Chronicles has been Jim McKee: Treasurer published specifically for physicians and health care professionals. [email protected] This edtion contains diagnostic and treatment protocols for Celeste Thomason: Secretary mastocytosis and mast cell activation disorders, locations of mast [email protected] cell disorder treatment centers, physician contact information, Michele Kress: Director documentation of research articles, and other pertinent information. [email protected] For additional information visit www.tmsforacure.org. Mishele Cunningham, RN, BSN, PHN: Education and Medical Conference Chair Patient Referral Coordinator [email protected] The Mastocytosis Society, Inc. Mission Patricia Beggiato: Fundraising Chair The Mastocytosis Society, Inc. is a 501(c)3 nonprofit organization [email protected] dedicated to supporting patients affected by Mastocytosis or Mast Cell Activation Disorders, as well as their families, caregivers, and Committees physicians through research, education, and advocacy. Special Edition Chronicles Susan Jennings, PhD Valerie M. Slee, RN, BSN TMS Medical Advisory Board Mishele Cunningham RN, BSN, PHN John Gilligan, Design Lawrence B. Afrin, M.D. Norton J. Greenberger, M.D. Drug Shortage Cem Akin, M.D., Ph.D. Richard Horan, M.D. [email protected] Iván Alvarez-Twose, M.D. Nicholas Kounis, M.D., Ph.D. Valerie M. Slee, RN, BSN, Co-Chair Philip Askenase, M.D. Philip B. Miner Jr., M.D. Emily Menard, BA Co-Chair K. Frank Austen, M.D.* Larry Schwartz, M.D., Ph.D. Fundraising Joseph Butterfield, M.D. Peter Valent, M.D. [email protected] Mariana Castells, M.D., Ph.D. Theoharis Theoharides, M.D., Ph.D. Patricia Beggiato, Chair Luis Escribano, M.D., Ph.D. Srdan Verstovsek, M.D., Ph.D. Pediatrics Jason Gotlib, M.D., M.S. Catherine R Weiler, M.D., Ph.D. [email protected] Kelli Foster *Honorary Board Member Stacy Sheldon We thank each of these doctors for their time, caring, and expertise. Research [email protected] Susan Jennings, PhD, Co-Chair Nancy Russell, DrPH, Co-Chair MPN Advocacy TMS is proud to be a Lay Organization member of The American [email protected] Academy of Allergy Asthma and Immunology (AAAAI) Jennifer Dratch, Chair Valerie M. Slee, RN, BSN, Board Liason Membership [email protected] Rita Barlow, Chair Sandra Frost Melanie Wardell The Mastocytosis Society is a long-standing member of the National Organization for Rare Disorders (NORD) 2 | The Mastocytosis Chronicles Mast Cell Disorders …continued from page 1 Fact Sheet in this issue). It should be noted that the term “UP” encompasses a variety of clinical manifestations. Diagnosis and Classification In children, some of these varieties will fade away, some CM is diagnosed by the presence of typical skin lesions will develop into indolent systemic mastocytosis and and a positive skin biopsy demonstrating characteristic some will evolve into a newly described entity called clusters of mast cells. The preferred method of well-differentiated systemic mastocytosis.5 diagnosing SM is via bone marrow (BM) biopsy. The World Health Organization (WHO) has established SYSTEMIC MASTOCYTOSIS criteria for diagnosing SM, summarized8 as follows: Systemic mastocytosis consists of a group of rare, heterogeneous disorders involving growth and accumulation Majorª: Multifocal dense infiltrates of mast cells of abnormal mast cells in one or multiple extracutaneous (MCs) (>15 MCs in aggregate) in tryptase stained organ systems (Table 1). Standard technique can be used to biopsy sections of the bone marrow or other obtain an iliac crest bone marrow (BM) biopsy and aspirate extracutaneous organ. smear for diagnosis. Aspirated BM should be allocated for Minorª: flow cytometry to assess for the presence of mast cells • More than 25% of MCs in bone marrow or with aberrant phenotype (i.e., co-expression of CD25). other extracutaneous organ(s) show abnormal Immunohistochemistry for KIT, mast cell tryptase, and morphology (i.e. are atypical MC type 1 or are CD25 should be performed on sections of the biopsy.10-14 spindle–shaped MCs) in multifocal lesions in histologic examination TABLE 1. • KIT mutation at codon 816b in extracutaneous Major Variants of Systemic Mastocytosis15 organ(s) (in most cases bone marrow cells are ISM (Indolent systemic mastocytosis) examined) WHO criteria for SM met, MC burden low, +/- skin + • KIT MCs in bone marrow show aberrant lesions, no C findings, no evidence of AHNMD expression of CD2 and/or CD25 • Bone marrow mastocytosis: ISM with BM • Serum total tryptase > 20 ng/mL (does not count involvement, but no skin lesions in patients who have AHNMD-type disease.) • Smoldering SM: ISM, typically with skin lesions, with 2 or more B findings, but no C findings. Abbreviation Key: SM-AHNMD (SM with associated clonal hematologic KIT: KIT tyrosine kinase receptor non mast cell lineage disease)* MC(s): Mast cells AHNMD: associated (clonal) hematologic non-mast Meets criteria for SM and also criteria for an AHNMD cell lineage disease (MDS, MPN, MDS/MPN, AML), or other WHO- ª If at least one major criterion and one minor defined myeloid hematologic neoplasm, +/- skin criterion OR at least three minor criteria are lesions. fulfilled, the diagnosis of systemic mastocytosis ASM (Aggressive systemic mastocytosis) can be established. Meets criteria for SM with one or more C findings. b Activating mutations at codon 816, in most cases, No evidence of MCL, +/- skin lesions. KIT D816V. MCL (Mast cell leukemia) Diagnostic techniques differentiate mastocytosis into Meets criteria for SM. BM biopsy shows a diffuse the following categories: infiltration, usually compact, by atypical, immature MCs. BM aspirate smears show 20% or more MCs. CUTANEOUS MASTOCYTOSIS This category includes maculopapular cutaneous Typical MCL: MCs comprise 10% or more of peripheral mastocytosis/urticaria pigmentosa (UP), telangiectasia blood white cells. Aleukemic MCL: < 10% of peripheral macularis eruptiva perstans (TMEP), diffuse cutaneous blood white cells are MCs. Usually without skin lesions. mastocytosis (DCM),
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