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Reading list: Papers to better understand mast cells and mast cell disease

I get asked semi-regularly for literature recommendations.  This post (and the other posts marked “Reading list”) lists papers I have found helpful in understanding mast cell disease and the roles of mast cells in other diseases.

As a general rule of thumb, read the guidance documents first.  They give comprehensive overviews that include symptoms, diagnosis, treatment, statistics and so on.  Please keep in mind that at this time, there are multiple sets of diagnostic criteria for MCAS.  I have included papers here that represent the competing schools of thought on MCAS.

Enjoy!

 

Guidance documents: Overviews of mast cell diseases

  • Afrin, Lawrence B. Presentation, Diagnosis and Management of Mast Cell Activation Syndrome. 2013. Mast Cells.
  • Akin C, Valent P, Metcalfe D. Mast cell activation syndrome: Proposed diagnostic criteria. Journal of Allergy and Clinical Immunology 2010: 126 (6): 1099–1104.e4
  • Bodemer C., Hermine O., Palmérini F., Yang Y., Grandpeix-Guyodo C., Leventhal PS., Hadj-Rabia S., Nasca L., Georgin-Lavialle S., Cohen-Akenine A., Launay JM., Barete S., Feger F., Arock M., Catteau B., Sans B., Stalder JF., Skowron F., Thomas L., Lorette G.Plantin P, Bordigoni P, Lortholary O, de Prost Y, Moussy A, Sobol H, Dubreuil P. Pediatric mastocytosis is a colonal disease associated with D816V and other activating C-KIT mutations. J Invest Dermatol 2010; 130:804–815.
  • Brockow, C. Jofer, H. Behrendt and J. Ring. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy 2008, 63 ( 2):, 226–232.
  • Cardet JC, Castells M, Hamilton MJ. Immunology and Clinical Manifestations of Non-Clonal Mast Cell Activation Syndrome. Curr Allergy Asthma Rep. Feb 2013; 13(1): 10–18.
  • Carter et al. Assessment of clinical findings, tryptase levels, and bone marrow histopathology in the management of pediatric mastocytosis. J Allergy Clin Immunol 2015.
  • Carter MC, Escribano L, Hartmann K, Lieberman P, Nedoszytko B, Orfao A, Schwartz LB, Sotlar K, Valent P, Akin C, Arock M, Brockow K, Butterfield JH, Sperr WR, Triggiani M, Valenta R, Horny HP, Metcalfe DD. Definitions, Criteria and Global Classification of Mast Cell Disorders with Special Reference to Mast Cell Activation Syndromes: A Consensus Proposal. Int Arch Allergy Immunol 2012;157:215–225.
  • Frieri, Marianne, et al. Pediatric mastocytosis: A review of the literature. Pediatr Allergy Immunol Pulmonol. Dec 1, 2013; 26(4): 175-180.
  • Georgin-Lavialle, Sophie, et al.  Mast cell leukemia.  Blood 2013;10 (11).
  • Gülen, H. Hägglund, B. Dahlén and G. Nilsson. High prevalence of anaphylaxis in patients with systemic mastocytosis – a single-centre experience. Clinical & Experimental Allergy, Volume 44, Issue 1, pages 121–129, January 2014.
  • Haenisch B, Nothen M, Molderings GJ. Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics. Immunology 2012, 137, 197–205.
  • Hamilton, Matthew J, et al.  Mast cell activation syndrome : A newly recognized disorder with systemic clinical manifestations.  2011, Vol 128, Issue 1, pp. 147-152.
  • Hauswirth, Alexander, et al. Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. 2004; Leuk Res 28 (3): 249-257.
  • Kettelhut BV., Metcalfe DD. Mastocytosis. J Invest Dermatol 1991; 96:115S–118S.
  • Lange M., Nedoszytko B., Górska A., Żawrocki A., Sobjanek M., Kozłowski D. Mastocytosis in children and adults: clinical disease heterogeneity. Arch Med Sci 2012; 8:533–541.
  • Lim KH, Tefferi A, Lasho TL, et al.Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood 2009; 113(23): 5727-5736.
  • Matito, Almudena, et al. Serum tryptase monitoring in indolent systemic mastocytosis: association with disease features and patient outcome. 2013; PLOS One.
  • Mital A, Piskorz A, Lewandowski K, Wasag B, Limon J, Hellmann A. A case of mast cell leukaemia with exon 9 KIT mutation and good response to imatinib.Eur J Haematol 2011; 86(6):531-535.
  • Molderings GJ, Brettner S, Homann J, and Afrin LB. Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. J Hematol Oncol. 2011; 4: 10.
  • Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, Nöthen MM. Familial occurrence of systemic mast cell activation disease. PLoS One, 8 (2013), p. e76241
  • Molderings GJ. The genetic basis of mast cell activation disease – looking through a glass darkly. Critical Reviews in Oncology/Hematology 2014.
  • Noack F, Sotlar K, Notter M, Thiel E, Valent P, Horny HP. Aleukemic mast cell leukemia with abnormal immunophenotype and c-kit mutation D816V.Leuk Lymphoma 2004; 45(11): 2295-2302.
  • Pardanani A. How I treat patients with indolent and smoldering mastocytosis (rare conditions but difficult to manage.) Blood 2013: 121 (16).
  • Pardanini A. Prognostically relevant breakdown of 123 patients with systemic mastocytosis associated with other myeloid malignancies. Blood 2009, 114 (18).
  • Pardanini, Animesh. Systemic mastocytosis in adults: 2013 update on diagnosis, risk stratification, and management. 2013; American Journal of Hematology: 88 (7).
  • Picard M, Giavina-Bianchi P, Mezzano V, Castells M. Expanding Spectrum of Mast Cell Activation Disorders: Monoclonal and Idiopathic Mast Cell Activation Syndromes. Clinical Therapeutics 2013: 35 (5), 548–562.
  • Sperr, Wolfgang. Diagnosis, progression patterns and prognostication in mastocytosis. Expert Review of Hematology 2012: 5 (3): 261-274.
  • Uzzaman, Ashraf, et al. Pediatric-onset Mastocytosis: A long term clinical follow-up and correlation with bone marrow histopathology. Pediatr Blood Cancer. Oct 2009; 53 (4): 629-634.
  • Valent, Peter, et al. Aggressive systemic mastocytosis and related mast cell disorders: current treatment options and proposed response criteria. 2003; Leuk Res 27 (7): 635-41.
  •  Valent et al. Chronic mast cell leukemia: A novel leukemia-variant with distinct morphological and clinical features. Leukemia Research 39 (2015) 1-5.
  • Valent, Peter, et al. How I treat patients with advanced systemic mastocytosis. 2010; Blood: 116 (26).
  • Wimazal F., Geissler P., Shnawa P., Sperr W.R., Valent P. Severe Life-Threatening or Disabling Anaphylaxis in Patients with Systemic Mastocytosis: A Single-Center Experience. Int Arch Allergy Immunol 2012; 157: 399–405.

Testing and diagnosis of mast cell disease

  • Freeman JG, Ryan JJ, Shelburne CP, Bailey DP, Bouton LA, Narasimhachari N, Domen J, Siméon N, Couderc F, Stewart JK. Catecholamines in murine bone marrowderived mast cells. J. Neuroimmunol. 2001 Oct;119(2):231-238.
  • Gordon JR, Galli SJ. Mast cells as a source of both preformed and immunologically inducible TNF-α/cachectin. Nature 1990 Jul 19; 346:274-276.
  • Laroche D, Vergnaud MC, Sillard B, Soufarapis H, Bricard H. Biochemical markers of anaphylactoid reactions to drugs: comparison of plasma histamine and tryptase. Anesthesiol. 1991 Dec; 75(6):945-949.
  • Maclouf J, Corvazier E, Wang ZY. Development of a radioimmunoassay for prostaglandin D2 using an antiserum against 11-methoxime prostaglandin D2. Prostaglandins 1986 Jan; 31(1):123-132.
  • Pregun I, Herszényi L, Juhász M, Miheller P, Hritz I, Patócs A, Rácz K, Tulassay Z. Effect of proton-pump inhibitor therapy on serum chromogranin A level. Digestion 2011; 84:22-28.
  • Seidel H, Molderings GJ, Oldenburg J, Meis K, Kolck UW, Homann J, Hertfelder HJ. Bleeding diathesis in patients with mast cell activation disease. Thromb. Haemost. 2011 Nov; 106(5):987-989.
  • Sur R, Cavender D, Malaviya R. Different approaches to study mast cell functions.  Int. Immunopharmacol. 2007 May;7(5):555-567.
  • Takeda J, Ueda E, Takahashi J, Fukushima K. Plasma N-methylhistamine concentration as an indicator of histamine release by intravenous d-tubocurarine in humans: preliminary study in five patients by radioimmunoassay kits. Anesth. Analg. 1995; 80:1015-1017.

Neurologic aspects of mast cell activation

  • Ikuko Mohri, Masako Taniike, Hidetoshi Taniguchi, Takahisa Kanekiyo, Kosuke Aritake, Takashi Inui, Noriko Fukumoto, Naomi Eguchi, Atsuko Kushi, Hitoshi. Prostaglandin D2-Mediated Microglia/Astrocyte Interaction Enhances Astrogliosis and Demyelination in The Journal of Neuroscience 2006; 26(16):4383– 4393.
  • Rogers MP, et al. Mixed organic brain syndrome as a manifestation of systemic mastocytosis. Psychosom Med. 1986 Jul-Aug; 48(6):437-47.
  • Smith, Jonathan H, Butterfield, Joseph H, Pardanini, Animesh, DeLuca, Gabriele, Cutrer, F Michael. Neurologic symptoms and diagnosis in adults with mast cell disease.  Clinical Neurology and Neurosurgery 113 (2011) 570-574.

Gastrointestinal aspects of mast cell disease

  • Bedeir A, et al.  Systemic mastocytosis mimicking inflammatory bowel disease: A case report and discussion of gastrointestinal pathology in systemic mastocytosis.  Am J Surg Pathol. 2006 Nov;30(11): 1478-82.
  • Hahn, Hejin P., Hornick, Jason L.  Immunoreactivity for CD25 in Gastrointestinal Mucosal Mast Cells is Specific for Systemic Mastocytosis.  American Journal of Surgical Pathology. Volume 31 (11). 2007.
  • Jensen RT. Gastrointestinal abnormalities and involvement in systemic mastocytosis. Hematol Oncol Clin North Am. 2000;14:579–623.
  • Kirsten Alfter, Ivar von Ku gelgen, Britta Haenisch, Thomas Frieling, Alexandra Hu lsdonk, Ulrike Haars, Arndt Rolfs, Gerhard Noe, Ulrich W. Kolck, Jurgen Homann and Gerhard J. Molderings. New aspects of liver abnormalities as part of the systemic mast cell activation syndrome. 2009 Liver International 29(2): 181-186.
  • Lee, Jason K, et al.  Gastrointestinal manifestations of systemic mastocytosis.  World J Gastroenterol. 14(45): 7005-7008.

Mastocytic enterocolitis

  • Akhavein, A, et al.  Allergic mastocytic gastroenteritis and colitis: An unexplained etiology in chronic abdominal pain and gastrointestinal dysmotility.  2012, Gastroenterology Research and Practice.
  • Hahn, Hejin P., Hornick, Jason L.  Immunoreactivity for CD25 in Gastrointestinal Mucosal Mast Cells is Specific for Systemic Mastocytosis.  American Journal of Surgical Pathology. Volume 31 (11). 2007.
  • Hamilton, Matthew J, et al.  Mast cell activation syndrome : A newly recognized disorder with systemic clinical manifestations.  2011, Vol 128, Issue 1, pp. 147-152.
  • Shriram Jakate, Mark Demeo, Rohan John, Mary Tobin, and Ali Keshavarzian (2006) Mastocytic Enterocolitis: Increased Mucosal Mast Cells in Chronic Intractable Diarrhea. Archives of Pathology & Laboratory Medicine: March 2006, Vol. 130, No. 3, pp. 362-367.
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