nach oben

Erschienen in:

2019 | OriginalPaper | Buchkapitel

6. Mastozytosen

verfasst von : Prof. Dr. Hans-Peter Horny, Prof. Dr. Karl Sotlar, Prof. Dr. Andreas Reiter, Prof. Dr. Peter Valent

Erschienen in: Pathologie

Verlag: Springer Berlin Heidelberg

Einloggen, um Zugang zu erhalten

Zusammenfassung

Mastozytosen sind Erkrankungen der hämatopoetischen Stammzelle und gehören damit zu den myelogenen bzw. myeloischen Neoplasien. Die Diagnose der systemischen Mastozytose (SM) erfolgt am Schnittpräparat des Knochenmarks. Die nach Art und Prognose äußerst heterogene Gruppe myeloplastischer Mastzell-Erkrankungen und ihre ungewöhnliche Assoziation zu nicht-mastozytären hämopoetischen Neoplasien erfordert die diagnostische Auswertung eines Befundspektrums. Hierzu zählen morphologische Befunde vor allem an histologischen Knochenmarkpräparaten, der immunhistochemische Nachweis definierter molekularer Alterationen und weitere klinische und molekularpathologische Befunde. Auch mit Einsatz aller Verfahren ist nicht in jedem Fall eine eindeutige Differentialdiagnose unterschiedlicher Formen der SM möglich. Hierfür bietet das Kapitel an Beispielfällen Formulierungshilfen.

Agis H, Krauth MT, Böhm A, Mosberger I, Müllauer L, Simonitsch-Klupp I, Walls AF, Horny H-P, Valent P (2006) Identification of basogranulin (BB1) as a novel immunohistochemical marker of basophils in normal bone marrow and patients with myeloproliferative disorders. Am J Clin Pathol 125:1–9CrossRef

Agis H, Krauth M-T, Mosberger I, Müllauer L, Simonitsch-Klupp I, Schwartz LB, Printz D, Böhm A, Fritsch G, Horny H-P, Valent P (2006) Enumeration and immunohistochemical characterisation of bone marrow basophils in myeloproliferative disorders using the basophil specific monoclonal antibody 2D7. J Clin Pathol 59:396–402CrossRef

Arber DA et al (2016) The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 127:2391CrossRef

Arock M, Sotlar K, Akin C, Broesby-Olsen S, Hörmann L, Escribano L, Kristensen T, Kluin-Nelemans HC, Hermine O, Dubreuil P, Sperr WR, Hartmann K, Gotlib J, Cross NCP, Haferlach T, Garcia-Montero A, Orfao A, Schwaab J, Triggiani M, Horny H-P, Metcalfe DD, Reiter A, Valent P (2015) KIT mutation analysis in mast cell neoplasms: recommendations of the European competence network on mastocytosis. Leukemia 29:1223–1232CrossRef

Berezowska S, Flaig MJ, Rueff F, Walz C, Haferlach T, Krokowski M, Kerler R, Petat-Dutter K, Horny H-P, Sotlar K (2013) Adult-onset mastocytosis in the skin is highly suggestive of systemic mastocytosis. Mod Pathol 27:19–29CrossRef

Erben P, Schwaab J, Metzgeroth G, Horny H-P, Sotlar K, Fabarius A, Teichmann M, Schneider S, Ernst T, Müller MC, Giehl M, Marx A, Hartmann K, Hochhaus A, Hofmann W-K, Cross NC, Reiter A (2013) The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. Ann Hematol 93:81–88CrossRef

Gotlib J, Pardanani A, Akin C, Reiter A, George T, Hermine O, Kluin-Nelemans H, Hartmann K, Sperr WR, Brockow K, Schwartz LB, Orfao A, DeAngelo DJ, Arock M, Sotlar K, Horny H-P, Metcalfe DD, Verstovsek S, Tefferi A, Valent P (2013) International working group – myeloproliferative neoplasms research and treatment (IWG-MRT) & European competence network on mastocytosis (ECNM) consensus response criteria in advanced systemic mastocytosis. Blood 121:2393–2401CrossRef

Gülen T, Sander B, Nilsson G, Palmblad J, Sotlar K, Horny H-P, Hägglund H (2012) Systemic mastocytosis: progressive evolution of an occult disease into fatal mast cell leukemia: unique findings on an unusual hematological neoplasm. Med Oncol 29:3540–3546CrossRef

Horny H-P, Sillaber C, Menke D, Kaiserling E, Wehrmann M, Stehberger B, Chott A, Lechner K, Lennert K, Valent P (1998) Diagnostic value of immunostaining for tryptase in patients with mastocytosis. Am J Surg Pathol 22:1132–1140CrossRef

10.

Horny H-P, Valent P (2002) Histopathological and immunohistochemical aspects of mastocytosis. Int Arch Allergy Immunol 127:115–117CrossRef

11.

Horny H-P, Sotlar K, Sperr WR, Valent P (2004) Systemic mastocytosis with associated clonal haematological non-mast cell lineage disease (SM-AHNMD): a histopathological challenge. J Clin Pathol 57:604–608CrossRef

12.

Horny H-P, Sotlar K, Valent P (2007) Mastocytosis: state of the art. Pathobiology 74:121–132CrossRef

13.

Horny H-P, Akin C, Arber DA, Peterson LC, Tefferi A, Metcalfe DD, Bennett JM, Bain BJ, Escribano L, Valent P (2017) Mastocytosis. In: WHO classification of tumours of haematopoietic and lymphoid tissues (eds.: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, LeBeau MM, Orazi A, Siebert R). IARC Press, Lyon, Frankreich

14.

Horny H-P (2009) Mastocytosis: an unusual clonal disorder of bone marrow-derived hematopoietic progenitor cells. Am J Clin Pathol 132:438–447CrossRef

15.

Horny H-P, Sotlar K, Valent P (2010) Differential diagnosis of systemic mastocytosis in routinely processed bone marrow biopsy specimens: a review. Pathobiology 77:169–180CrossRef

16.

Horny H-P, Sotlar K, Valent P (2011) Eosinophil, basophil, and mast infiltrates in the bone marrow: crossing the boundaries of diagnosis. J Hematop 4:101–111CrossRef

17.

Horny H-P, Sotlar K, Valent P (2014) Mastocytosis: immunophenotypical features of the transformed mast cells are unique among hematopoietic cells. Immunol Allergy Clin N Am 34:315–321CrossRef

18.

Horny H-P, Reiter A, Sotlar K, Valent P (2014) Aggressive systemic mastocytosis: a review. J Oncol Path 4:63–73

19.

Horny H-P, Reiter A, Sotlar K, Valent P (2014) Myelomastocytic leukemia: histopathological featues, diagnostic criteria and differential diagnosis. Expert Rev Hematol 7:431–437CrossRef

20.

Horny H-P, Reiter A, Sotlar K, Valent P (2014) Mast cell leukemia: a review. Int J Hematol Oncol 3:395–405CrossRef

21.

Jawhar M, Schwaab J, Schnittger S, Sotlar K, Horny H-P, Metzgeroth G, Müller N, Schneider S, Naumann N, Walz C, Haferlach T, Valent P, Hofmann W-K, Cross NCP, Fabarius A, Reiter A (2015) Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event. Leukemia 29:1115–1122CrossRef

22.

Rueff F, Vos B, Oude Elberink J, Bender A, Chatelain R, Dugas-Breit S, Horny H-P, Küchenhoff H, Linhardt A, Mastnik S, Sotlar K, Stretz E, Vollrath R, Przybilla B, Flaig M (2014) Predictors of clinical effectiveness of Hymenoptera venom immunotherapy. Clin Exp Allergy 44:736–746CrossRef

23.

Schwaab J, Schnittger S, Sotlar K, Walz C, Fabarius A, Pfirrmann M, Kohlmann A, Grossmann V, Meggendorfer M, Valent P, Horny H-P, Jawhar M, Teichmann M, Metzgeroth G, Erben P, Ernst T, Hochhaus A, Haferlach T, Hofmann W-K, Cross NCP, Reiter A (2013) Comprehensive mutational profiling in advanced systemic mastocytosis. Blood 122:2460–2466CrossRef

24.

Schwaab J, Horny H-P, Jonescheit J, Metzgeroth G, Schafhausen P, Gaiser T, Marx A, Kienle P, Hofmann W-K, Reiter A (2013) Mast cell sarcoma mimicking metastatic colon carcinoma. Ann Hematol 93:1067–1069CrossRef

25.

Sotlar K, Horny H-P, Simonitsch I, Krokowski M, Aichberger KJ, Mayerhofer M, Printz D, Fritsch G, Valent P (2004) CD25 indicates the neoplastic phenotype of mast cells. A novel immunohistochemical marker for the diagnosis of systemic mastocytosis (SM) in routinely processed bone marrow biopsy specimens. Am J Surg Pathol 28:1319–1325CrossRef

26.

Sotlar K, Bache A, Stellmacher F, Bültmann B, Valent P, Horny H-P (2008) Systemic mastocytosis associated with chronic idiopathic myelofibrosis. A distinct subtype of systemic mastocytosis associated with a clonal hematological non-mast cell lineage disorder carrying the activating point mutations KIT^D816V and JAK2^V617F. J Mol Diagn 10:58–66CrossRef

27.

Sotlar K, Colak S, Bache A, Berezowska S, Krokowski M, Bültmann B, Valent P, Horny H-P (2010) Variable presence of KITD816V in clonal hematologic non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD). J Pathol 220:586–595CrossRef

28.

Sotlar K, Cerny-Reiterer S, Petat-Dutter K, Hessel H, Berezowska S, Müllauer L, Valent P, Horny H-P (2010) Aberrant expression of CD30 in neoplastic mast cells in high-grade mastocytosis. Mod Pathol 24:585–595CrossRef

29.

Sotlar K, Valent P, Horny H-P (2012) Mastozytosen und myeloische Neoplasien mit Eosinophilie: Diagnostik und Klassifikation. Pathologe 33:539–552CrossRef

30.

Sperr W, Escribano L, Jordan J-H, Schernthaner G-H, Kundi M, Horny H-P, Valent P (2001) Morphologic properties of neoplastic mast cells: delineation of stages of maturation and implication for cytological grading of mastocytosis. Leuk Res 25:529–536CrossRef

31.

Sperr WR, Jordan JH, Fiegl M, Escribano L, Bellas C, Dirnhofer S, Semper H, Simonitsch-Klupp I, Horny H-P, Valent P (2002) Serum tryptase levels in patients with mastocytosis: correlation with mast cell burden and implication for defining the category of disease. Int Arch Allergy Immunol 128:136–141CrossRef

32.

Valent P, Horny H-P, Li CY, Longley BJ, Metcalfe DD, Parwaresch MR, Bennett JM (2001) Mastocytosis. In: Jaffe ES, Harris NL, Stein H, Vardiman JW (Hrsg) Tumours of haemopoietic and lymphoid tissues. World Health Organization Classification of Tumours. IARC Press, Lyon

33.

Valent P, Horny H-P, Escribano L, Longley JB, Li CY, Schwartz LB, Marone G, Nunez R, Akin C, Sotlar K, Sperr W, Wolff K, Brunning RD, Parwaresch RM, Austen FK, Lennert K, Metcalfe DD, Vardiman JW, Bennett JB (2001) Diagnostic criteria and classification of mastocytosis: a consensus proposal (Conference report: „Year 2000 Working Conference on Mastocytosis“). Leuk Res 25:603–625CrossRef

34.

Valent P, Akin C, Sperr WR, Escribano L, Arock M, Horny H-P, Bennett JM, Metcalfe DD (2003) Aggressive systemic mastocytosis and related mast cell disorders: current treatment options and proposed response criteria. Leuk Res 27:635–641CrossRef

35.

Valent P, Sotlar K, Horny H-P (2011) Aberrant expression of CD30 in aggressive systemic mastocytosis and mast cell leukemia: a differential diagnosis to consider in aggressive hematopoietic CD30-positive neoplasms. Leuk Lymphoma 52:740–744CrossRef

36.

Valent P, Sotlar K, Sperr WR, Escribano L, Yavuz AS, Reiter A, George TI, Kluin-Nelemans H, Hermine O, Butterfield JH, Hägglund H, Ustun C, Hornick JL, Triggiani M, Radia D, Akin C, Hartmann K, Gotlib J, Schwartz LB, Verstovsek S, Orfao A, Metcalfe DD, Arock M, Horny H-P (2014) Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal. Ann Oncol 25:1691–1700CrossRef

37.

Valent P, Blatt K, Eisenwort G, Herrmann H, Cerny-Reiterer S, Thalhammer R, Müllauer L, Hörmann G, Sadovnik I, Schwarzinger I, Sperr WR, Mannhalter C, Horny H-P (2014) FLAG-induced remission in a patient with acute mast cell leukemia (MCL) exhibiting t(7;10)(q22;q26) and KIT D816H. Leuk Res Reports 3:8–13CrossRef

38.

Valent P, Escribano L, Broesby-Olsen S, Hartmann K, Grattan C, Brockow K, Niedoszytko M, Nedoszytko B, Oude Elberink JN, Kristensen T, Butterfield JH, Triggiani M, Alvarez-Twose I, Reiter A, Sperr WR, Sotlar K, Yavuz S, Kluin-Nelemans HC, Hermine O, Radia D, van Doormaal JJ, Gotlib J, Orfao A, Siebenhaar F, Schwartz LB, Castells M, Maurer M, Horny H-P, Akin C, Metcalfe DD, Arock M (2014) Proposed diagnostic algorithm for patients with suspected mastocytosis: a proposal of the European Competence Network on Mastocytosis. Allergy 69:1267–1274CrossRef

39.

Valent P, Sperr WR, Sotlar K, Reiter A, Akin C, Gotlib J, Horny H-P, Arock M (2014) The serum tryptase test: an emerging robust biomarker in clinical hematology. Expert Rev Hematol 7:683–690CrossRef

40.

Valent P, Berger J, Cerny-Reiterer S, Peter B, Eisenwort G, Hörmann G, Müllauer L, Mannhalter C, Steurer M, Bettelheim P, Horny H-P, Arock M (2014) Chronic mast cell leukemia (MCL) with KIT S476I: a rare entity defined by leukemic expansion of mature mast cells and absence of organ damage. Ann Hematol 94:223–231CrossRef

41.

Valent P, Sotlar K, Sperr WR, Reiter A, Arock M, Horny H-P (2015) Chronic mast cell leukemia: a novel leukemia-variant with distinct morphological and clinical features. Leuk Res 39:1–5CrossRef

42.

Walz C, Subklewe M, Horny H-P, Flaig M, Reiter A, Kirchner T, Sotlar K (2012) Advanced systemic mastocytosis as a mimicker of metastatic renal cell carcinoma. Leuk Res 36:799–801CrossRef

Titel: Mastozytosen
verfasst von: Prof. Dr. Hans-Peter Horny
Prof. Dr. Karl Sotlar
Prof. Dr. Andreas Reiter
Prof. Dr. Peter Valent
Verlag: Springer Berlin Heidelberg
Buch: Pathologie
Print ISBN: 978-3-540-85183-7

Electronic ISBN: 978-3-540-85184-4

Copyright-Jahr: 2019
DOI: https://doi.org/10.1007/978-3-540-85184-4_6

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

6. Mastozytosen

Zusammenfassung

Neu im Fachgebiet Pathologie

Assistierter Suizid durch Infusion von Thiopental

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Zusammenfassung

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Neu im Fachgebiet Pathologie

Assistierter Suizid durch Infusion von Thiopental

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren