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Impact of centralized evaluation of bone marrow histology in systemic mastocytosis

Impact of centralized evaluation of bone marrow histology in systemic mastocytosis
Impact of centralized evaluation of bone marrow histology in systemic mastocytosis
BACKGROUND:Bone marrow (BM) histology/immunohistochemistry, KIT D816V mutation analysis and serum tryptase measurements are mandatory tools for diagnosis of systemic mastocytosis (SM).

MATERIALS AND METHODS: Within the 'German Registry of Disorders on Eosinophils and Mast Cells', we identified 65 SM patients who had two consecutive BM biopsies. The first biopsy was evaluated by a local pathologist (LP), the second biopsy by a reference pathologist (RP) of the 'European Competence Network on Mastocytosis (ECNM)'.

RESULTS: Final diagnoses by RP were SM (n = 27), SM or aggressive SM (ASM) with associated non-mast cell lineage hematologic disease [(A)SM-AHNMD, n = 34)] or mast cell leukemia ± AHNMD (n = 4). In 15/65 patients (23%), initial diagnoses by LP were incorrect (by overlooking SM), e.g. primary myelofibrosis (n = 3), myelodysplastic/myeloproliferative neoplasm unclassified (n = 3), B-cell lymphoma (n = 2). Fourteen of 15 patients (93%) with incorrect diagnosis had an advanced SM, mostly (A)SM-AHNMD. In the 50 concordantly diagnosed patients, immunohistochemical markers for quantitative assessment of mast cell infiltration, e.g. CD117 (KIT) or CD25, were applied by LP in only 34/50 patients (68%), and mutational analysis for KIT D816V was performed or recommended in only 13/50 patients (26%). Finally, the subclassification of SM was discordant because LP did not diagnose AHNMD in 9/50 (18%) patients.

CONCLUSIONS: In summary, adequate diagnosis and subclassification of SM requires an in-depth evaluation of the BM by experienced hematopathologists (preferably in a reference center) in combination with molecular genetics, serum tryptase and clinical parameters. This article is protected by copyright. All rights reserved.
bone marrow histology, misdiagnosis, ecnm, kitd816v
0014-2972
392-397
Jawhar, Mohamad
a608a215-173b-47bd-89eb-a8de2fe595aa
Schwaab, Juliana
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Horny, Hans-Peter
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Sotlar, Karl
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Naumann, Nicole
43566136-d964-415e-be36-45aeb4f88965
Fabarius, Alice
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Valent, Peter
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Cross, Nicholas C.P.
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Hofmann, Wolf-Karsten
ab66838b-bf8c-4352-a0f0-3c8aafed2570
Metzgeroth, Georgia
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Reiter, Andreas
ffa23e84-4a13-4cb5-aaf0-3fafe25dbede
Jawhar, Mohamad
a608a215-173b-47bd-89eb-a8de2fe595aa
Schwaab, Juliana
d63ed545-a6fc-4815-ab86-f901e55c2a2f
Horny, Hans-Peter
95077a3b-b869-49ba-a227-f88b2c0bad80
Sotlar, Karl
e3e96797-3fab-4c37-8728-7c77bb3ba389
Naumann, Nicole
43566136-d964-415e-be36-45aeb4f88965
Fabarius, Alice
5c31b1e0-c6da-49b8-843a-5b0ca736e5a2
Valent, Peter
1f551798-afce-4de4-abed-9efd78bc2e8a
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Hofmann, Wolf-Karsten
ab66838b-bf8c-4352-a0f0-3c8aafed2570
Metzgeroth, Georgia
611ec46d-9a11-4e24-ae0f-5ac19dfd0237
Reiter, Andreas
ffa23e84-4a13-4cb5-aaf0-3fafe25dbede

Jawhar, Mohamad, Schwaab, Juliana, Horny, Hans-Peter, Sotlar, Karl, Naumann, Nicole, Fabarius, Alice, Valent, Peter, Cross, Nicholas C.P., Hofmann, Wolf-Karsten, Metzgeroth, Georgia and Reiter, Andreas (2016) Impact of centralized evaluation of bone marrow histology in systemic mastocytosis. European Journal of Clinical Investigation, 46 (5), 392-397. (doi:10.1111/eci.12607). (PMID:26914980)

Record type: Article

Abstract

BACKGROUND:Bone marrow (BM) histology/immunohistochemistry, KIT D816V mutation analysis and serum tryptase measurements are mandatory tools for diagnosis of systemic mastocytosis (SM).

MATERIALS AND METHODS: Within the 'German Registry of Disorders on Eosinophils and Mast Cells', we identified 65 SM patients who had two consecutive BM biopsies. The first biopsy was evaluated by a local pathologist (LP), the second biopsy by a reference pathologist (RP) of the 'European Competence Network on Mastocytosis (ECNM)'.

RESULTS: Final diagnoses by RP were SM (n = 27), SM or aggressive SM (ASM) with associated non-mast cell lineage hematologic disease [(A)SM-AHNMD, n = 34)] or mast cell leukemia ± AHNMD (n = 4). In 15/65 patients (23%), initial diagnoses by LP were incorrect (by overlooking SM), e.g. primary myelofibrosis (n = 3), myelodysplastic/myeloproliferative neoplasm unclassified (n = 3), B-cell lymphoma (n = 2). Fourteen of 15 patients (93%) with incorrect diagnosis had an advanced SM, mostly (A)SM-AHNMD. In the 50 concordantly diagnosed patients, immunohistochemical markers for quantitative assessment of mast cell infiltration, e.g. CD117 (KIT) or CD25, were applied by LP in only 34/50 patients (68%), and mutational analysis for KIT D816V was performed or recommended in only 13/50 patients (26%). Finally, the subclassification of SM was discordant because LP did not diagnose AHNMD in 9/50 (18%) patients.

CONCLUSIONS: In summary, adequate diagnosis and subclassification of SM requires an in-depth evaluation of the BM by experienced hematopathologists (preferably in a reference center) in combination with molecular genetics, serum tryptase and clinical parameters. This article is protected by copyright. All rights reserved.

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Accepted/In Press date: 18 February 2016
e-pub ahead of print date: 23 February 2016
Published date: May 2016
Keywords: bone marrow histology, misdiagnosis, ecnm, kitd816v
Organisations: Human Development & Health

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Local EPrints ID: 388660
URI: http://eprints.soton.ac.uk/id/eprint/388660
ISSN: 0014-2972
PURE UUID: 86e8e057-436e-4dac-b6b4-778f58a3a3c7
ORCID for Nicholas C.P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 01 Mar 2016 14:09
Last modified: 03 Dec 2019 06:48

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Contributors

Author: Mohamad Jawhar
Author: Juliana Schwaab
Author: Hans-Peter Horny
Author: Karl Sotlar
Author: Nicole Naumann
Author: Alice Fabarius
Author: Peter Valent
Author: Wolf-Karsten Hofmann
Author: Georgia Metzgeroth
Author: Andreas Reiter

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