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Lauren A. Ebbecke. Introduction Systemic Mastocytosis – abnormal growth and aggregation of mast cells in more than one organ Liver, spleen, skin, gastrointestinal,

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Presentation on theme: "Lauren A. Ebbecke. Introduction Systemic Mastocytosis – abnormal growth and aggregation of mast cells in more than one organ Liver, spleen, skin, gastrointestinal,"— Presentation transcript:

1 Lauren A. Ebbecke

2 Introduction Systemic Mastocytosis – abnormal growth and aggregation of mast cells in more than one organ Liver, spleen, skin, gastrointestinal, bone marrow, lymph nodes 80% of patients have the D816V c-kit mutation

3 Introduction Listed below are some of the symptoms that people with SM can experience : Rashes or Itchingloss of consciousness hypotensionanaphylactic reactions osteoporosis gastrointestinal upsets Nausea or vomitingDiarrhea AnemiaFlushing WheezingDizziness Reduced Blood PlateletsLeukopenia

4 Methods Sixteen papers were reviewed from based on the following criteria: Clinical studies of patients with SM Advances in SM research Classification of SM Diagnosis of SM

5 RESEARCH WHO Classification Cutaneous Mastocytosis (CM) Indolent Systemic Mastocytosis (ISM) Systemic Mastocytosis with an associated clonal hematological non mast cell lineage disease (SM-AHNMD) Aggressive Systemic Mastocytosis (ASM) Mast Cell Leukemia (MCL) Mast Cell Sarcoma Extracutaneous Mastocytoma

6 Major Criteria Multifocal dense mast cell (MC) infiltrates ≥15% in the bone marrow or in an other extracutaneous organ Minor Criteria >25% spindle-shaped cells in Mast Cell infiltrates; or >25% of all MC are atypical MC (type I and/or type II) in bone marrow smears Expression of CD2 and/or CD25 on bone marrow MC Serum tryptase level >20 ng/ml (does not count in cases with an AHNMD) c-kitpoint mutation at codon 816 (mostly D816V) in bone marrow or in another extracutaneous organ RESEARCH WHO Classification for SM

7 RESEARCH WHO Classification for SM continued…. Diagnosis of SM 1 major criteria and 1 minor criteria have been met 3 minor criteria have been met

8 RESEARCH Systemic Mastocytosis has two major classes Slow growing in the bone known as Indolent Systemic Mastocytosis (ISM) Aggressive Systemic Mastocytosis (ASM) can lead Mast Cell Leukemia Photos courtesy of the Pathological Society of Great Britain

9 RESEARCH Hematopoietic Stem cell Systemic Mastocytosis SM Indolent Systemic Mastocytosis ISM Bone Marrow Mastocytosis BMM Smouldering Systemic Mastocytosis SSM Aggressive Systemic Mastocytosis ASM Mast Cell Leukemia MCL SM-AHNMD ASM, MCL, and SM-AHNMD Have a very poor prognosis (death).

10 RESEARCH Treatment Options Mediator type symptoms Drugs targeting Mediator Production, Release and Effects Cytoreductive Therapy Drugs Neoplastic stem cells – Progenitor cells, Mast Cells – Specific Molecular Targets

11 RESEARCH Other Treatment Options: Antihistamines Corticosteroids Interferon Chemotherapy Radiation Bone Marrow Transplants Kinase Inhibitors (Imatinib)

12 DISCUSSION ADVANCES IN THE LAST DECADE Serum Tryptase > 20ng/ml Markers such as CD2, CD25 c-kit mutations Bone Marrow Aspirations New Drug Therapy

13 Discussion Further Research More Data to support criteria and classification Better tests to accurately diagnose SM Better Effective Standardized Treatment Options Studies on what causes SM, frequency of occurrence, and, IgE and its role Clarification of Associated Clonal Hematological non-mast cell disease

14 REFERENCES Bains SN, Hsieh FH. Current Approaches to the diagnosis and treatment of systemic mastocytosis, Ann Allergy Asthma Immunol Jan, 104(1):1-10. de Olano DG, de la Hoz Caballer B, Nu´ n˜ ez Lo´ pez R, Sanchez Munoz L, Cuevas Augustin M, Diguez L et al. Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA). Clin Exp Allergy 2007, 37:1547–1555. Henz, Beate M. Exploring the Mast Cell Enigma: A Personal Reflection of What Remains to Be Done. Experimental Dermatology, 2008, 17, Horny HP. An Unusual Clonal Disorder of Bone Marrow-Derived Hematopoietic Progenitor Cells. Am J Clin Pathol 2009, 132; Horny H.P., Sotlar K, Valent P.. Mastocytosis: state of the art. Pathobiology. 2007, 74(2): Horny HP, Sotlar K, Valent P. Differential diagnoses of systemic mastocytosis in routinely processed bone marrow biopsy Specimens: a reviwe. Pathobiology. 2010;77(4): Epub 2010 Jul 7. Lim KH, Tefferi A, Lasho TL, Finke C, Patnaik M, Butterfield JH, McClure RF, Li CY, Pardanani A. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood 2009, 113:5727–36. Orfao, Alberto, Andrés C. Garcia-Montero, Laura Sanchez and Luis Escribano. Recent advances in the understanding of mastocytosis: the role of KIT mutations. British Journal of Haematology. Volume 138, Issue 1, July 2007, Pages: 12–30.

15 REFERENCES Pardanani A. and A. Tefferi, A Critical reappraisal of treatment response criteria in systemic mastocytosis and a proposal for revisions. European Journal of Haematology. Volume 84, Issue 5, May 2010, Pages: 371–378. Quintas-Cardama A, Aribi A, Cortes J, Giles F J, Kantarjian H, and Verstovsek S, Novel Approaches in the Treatment of Systemic Mastocytosis. Cancer 2006, 107:1429–39. Valent, Peter, Cem Akin, Wolfgang R. Sperr, Hans-P. Horny, Michel Arock, Klaus Lechner, John M. Bennett and Dean D. Metcalfe, Diagnostic and Treatment of Systemic Mastocytosis: State of The Art. British Journal of Haematology, Volume 122, Issue 5, September 2003, Pages: 695–717. Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, Marone G, Nunez R, Akin C, Sotlar K, Sperr WR, Wolff K. Brunning RD, Parwaresch RM, Austen KF, Lennett K, Metcalfe DD, Vardiman JW, Bennett JM. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res Jul, 25(7): Peter Valenta Luis Escribanob Reza M. Parwareschc Verena Schemmeld Lawrence B. Schwartze Karl Sotlarf Wolfgang R. Sperra Hans-Peter Horny. Recent Advances in Mastocytosis Research: Summary of Vienna Mastocytosis Meeting Int Arch Allergy Immunol 1999;120:1–7. Valent, P., Akin, C., Sperr, W.R., Mayerhofer, M., Fodinger, M., Fritsche-Polanz, R., Sotlar, K., Escribano, L., Arock, M., Horny, H.P. & Metcalfe, D.D. (2005) Mastocytosis: pathology, genetics, and current options for therapy. Leukemia and Lymphoma, 46: 35–48.

16 REFERENCES Yin C. C., L. J. Medeiros, C. E. Bueso-Ramos. Recent advances in the diagnosis and classification of myeloid neoplasms – comments on the 2008 WHO Classification. International Journal of Laboratory Hematology, 2010, 32: 461–476. Webb T, Md,’ Chin-Yang Li, Md,T And Lung T. Yam, Mds. Systemic Mast Cell Disease: A Clinical and Hematopathologic Study of 26 Cases. Cancer 1982, 49:


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