Abstract
Pathology plays a central role in the diagnosis of systemic mastocytosis (SM), its delineation from other neoplasms and reactive conditions, and in monitoring of SM under therapy. The morphologic hallmark of SM is the accumulation of spindle-shaped, hypogranulated mast cells (MCs) in bone marrow (BM) and other extracutaneous tissues. Four of the 5 World Health Organization–defined diagnostic criteria (ie, compact MC aggregates [=major criterion]; atypical MC morphology; activating KIT point mutations; aberrant expression of CD25 and/or CD2 and/or CD30 in MCs [=minor criteria]) can be addressed by the pathologist. The final classification of SM variants as either BM mastocytosis, indolent SM, smoldering SM, aggressive SM (ASM), SM with an associated hematologic neoplasm (SM-AHN), or MC leukemia (MCL) has important prognostic significance and requires the integration of certain morphological, clinical, radiological, and biochemical data, referred to as B- and C-findings. Substantial diagnostic challenges may be posed to the pathologist and clinician especially in the so-called advanced SM variants, that is, ASM, MCL, and SM-AHN. In this article, updated recommendations of the EU-US Cooperative Group regarding standards of pathology in the diagnosis of SM, presented during the year 2020 Working Conference held in September in Vienna, are reported.
Original language | English |
---|---|
Pages (from-to) | 1986-1998.e2 |
Number of pages | 15 |
Journal | The Journal of Allergy and Clinical Immunology: In Practice |
Volume | 10 |
Issue number | 8 |
DOIs | |
Publication status | Published - Aug-2022 |
Keywords
- Associated hematologic neoplasm
- CD117
- CD25
- Diagnosis
- Diagnostic criteria
- Immunohistochemistry
- KIT p.D816V
- Mast cell
- Mastocytosis
- Pathology
- Tryptase
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In: The Journal of Allergy and Clinical Immunology: In Practice, Vol. 10, No. 8, 08.2022, p. 1986-1998.e2.
Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - Standards of Pathology in the Diagnosis of Systemic Mastocytosis
T2 - Recommendations of the EU-US Cooperative Group
AU - Sotlar, Karl
AU - George, Tracy I.
AU - Kluin, Philip
AU - Reiter, Andreas
AU - Schwaab, Juliana
AU - Panse, Jens
AU - Brockow, Knut
AU - Hartmann, Karin
AU - Sperr, Wolfgang R.
AU - Kristensen, Thomas
AU - Nedoszytko, Boguslaw
AU - Carter, Melody
AU - Bonadonna, Patrizia
AU - Lyons, Jonathan J.
AU - Kluin-Nelemans, Hanneke C.
AU - Hermine, Olivier
AU - Akin, Cem
AU - Broesby-Olsen, Sigurd
AU - Hoermann, Gregor
AU - Triggiani, Massimo
AU - Butterfield, Joseph H.
AU - Jawhar, Mohamad
AU - Gotlib, Jason
AU - Metcalfe, Dean D.
AU - Orfao, Alberto
AU - Arock, Michel
AU - Valent, Peter
AU - Horny, Hans Peter
N1 - Funding Information: Conflicts of interest: K. Sotlar has served as a consultant for and has received honoraria from Novartis and Blueprint. T. I. George has served as a consultant for and is on the study steering committees for Blueprint, Celgene, and Incyte. A. Reiter has received honoraria for consultancy from Novartis, Blueprint, and Deciphera; and research support from Novartis . J. Schwaab is on the advisory board of and has received honoraria from Novartis and Blueprint Medicines. J. Panse has received honoraria from Alexion, Apellis, BMS, Boehringer Ingelheim, Gilead, MSD, Neopharm Israel, Novartis, Pfizer, Roche, Sobi, and SwixxBiopharma; and has served as consultant for Alexion, Amgen, Apellis, AstraZeneca, Blueprint Medicines, BMS, Boehringer Ingelheim, Gilead, MSD, Novartis, Pfizer, Roche, Sanofi, and Sobi. K. Brockow is on the advisory board (honoraria) of Blueprint. K. Hartmann has received research funding from Thermo Fisher ; and has served as a consultant for and has received honoraria from Allergopharma, ALK-Abello, Blueprint, Deciphera, Leo Pharma, Menarini, Novartis, Pfizer, Takeda, and Thermo Fisher. W. R. Sperr has received honoraria for consultancy from Thermo Fisher, AbbVie, Novartis, Pfizer, Incyte, Deciphera, Jazz, Teva, and Celgene. T. Kristensen received honoraria from Novartis and Blueprint Medicine and TKK, Odense University Hospital and the Region of Southern Denmark receive royalty from PentaBase ApS from the sale of PentaBase KIT D816Vassay pursuant to the Act on Inventions at Public Research Institutions (LBK210—paragraph 12, section 1 & 2). P. Bonadonna has received honoraria from Novartis and Blueprint. O. Hermine is a co-founder and stockholder of AB Science; and has received research grant from AB Science, Novartis, Celgene, and Lipomed. C. Akin has received honoraria for consultancy from Blueprint and Novartis, and research grant from Blueprint ; and is an investigator in a clinical trial for Blueprint. S. Broesby-Olsen is a study steering committee member for Blueprint Medicines; and has received speaker honoraria from Novartis and Thermo Fisher. G. Hoermann has received honoraria from Novartis and Incyte. M. Triggiani has received honoraria for consultancy from Novartis, Deciphera, and Blueprint; and is an investigator in a clinical trial for Blueprint. J. Gotlib has received research grant (funds for administration of clinical trials) from Novartis, Blueprint Medicines, Deciphera, and Cogent Biosciences; is on the advisory board of and has received honoraria from Blueprint Medicines, Novartis, Deciphera, and Cogent Biosciences; and has received reimbursement of travel expenses from Novartis and Blueprint. D. D. Metcalfe is an investigator in a clinical trial for Sanofi US Services. A. Orfao has received honoraria for consultancy from Novartis and Blueprint. M. Arock has received research grants from Blueprint and honoraria from AB Science, Blueprint, and Novartis. P. Valent is on the advisory board of and has received honoraria from Novartis, Blueprint, Deciphera, Celgene/BMS, Incyte, and Novartis. H.-P. Horny is on the advisory board of and has received honoraria from Novartis, Deciphera, and Blueprint Medicines. The rest of the authors declare that they have no relevant conflicts of interest. Funding Information: T. I. George was supported by the ARUP Institute for Clinical and Experimental Pathology . K. Hartmann was supported by the Swiss National Science Foundation , grant number 310030_207705 . D. D. Metcalfe, J. J. Lyons, and M. Carter were supported by the Division of Intramural Research , National Institutes of Allergic and Infectious Diseases , National Institutes of Health ( NIH ). The content is solely the responsibility of the authors and does not represent the official views of the NIH. P. Valent was supported by the Austrian Science Funds ( FWF ), projects F4701-B20 and F4704-B20. Funding Information: T. I. George was supported by the ARUP Institute for Clinical and Experimental Pathology. K. Hartmann was supported by the Swiss National Science Foundation, grant number 310030_207705. D. D. Metcalfe, J. J. Lyons, and M. Carter were supported by the Division of Intramural Research, National Institutes of Allergic and Infectious Diseases, National Institutes of Health (NIH). The content is solely the responsibility of the authors and does not represent the official views of the NIH. P. Valent was supported by the Austrian Science Funds (FWF), projects F4701-B20 and F4704-B20.Conflicts of interest: K. Sotlar has served as a consultant for and has received honoraria from Novartis and Blueprint. T. I. George has served as a consultant for and is on the study steering committees for Blueprint, Celgene, and Incyte. A. Reiter has received honoraria for consultancy from Novartis, Blueprint, and Deciphera; and research support from Novartis. J. Schwaab is on the advisory board of and has received honoraria from Novartis and Blueprint Medicines. J. Panse has received honoraria from Alexion, Apellis, BMS, Boehringer Ingelheim, Gilead, MSD, Neopharm Israel, Novartis, Pfizer, Roche, Sobi, and SwixxBiopharma; and has served as consultant for Alexion, Amgen, Apellis, AstraZeneca, Blueprint Medicines, BMS, Boehringer Ingelheim, Gilead, MSD, Novartis, Pfizer, Roche, Sanofi, and Sobi. K. Brockow is on the advisory board (honoraria) of Blueprint. K. Hartmann has received research funding from Thermo Fisher; and has served as a consultant for and has received honoraria from Allergopharma, ALK-Abello, Blueprint, Deciphera, Leo Pharma, Menarini, Novartis, Pfizer, Takeda, and Thermo Fisher. W. R. Sperr has received honoraria for consultancy from Thermo Fisher, AbbVie, Novartis, Pfizer, Incyte, Deciphera, Jazz, Teva, and Celgene. T. Kristensen received honoraria from Novartis and Blueprint Medicine and TKK, Odense University Hospital and the Region of Southern Denmark receive royalty from PentaBase ApS from the sale of PentaBase KIT D816Vassay pursuant to the Act on Inventions at Public Research Institutions (LBK210—paragraph 12, section 1 & 2). P. Bonadonna has received honoraria from Novartis and Blueprint. O. Hermine is a co-founder and stockholder of AB Science; and has received research grant from AB Science, Novartis, Celgene, and Lipomed. C. Akin has received honoraria for consultancy from Blueprint and Novartis, and research grant from Blueprint; and is an investigator in a clinical trial for Blueprint. S. Broesby-Olsen is a study steering committee member for Blueprint Medicines; and has received speaker honoraria from Novartis and Thermo Fisher. G. Hoermann has received honoraria from Novartis and Incyte. M. Triggiani has received honoraria for consultancy from Novartis, Deciphera, and Blueprint; and is an investigator in a clinical trial for Blueprint. J. Gotlib has received research grant (funds for administration of clinical trials) from Novartis, Blueprint Medicines, Deciphera, and Cogent Biosciences; is on the advisory board of and has received honoraria from Blueprint Medicines, Novartis, Deciphera, and Cogent Biosciences; and has received reimbursement of travel expenses from Novartis and Blueprint. D. D. Metcalfe is an investigator in a clinical trial for Sanofi US Services. A. Orfao has received honoraria for consultancy from Novartis and Blueprint. M. Arock has received research grants from Blueprint and honoraria from AB Science, Blueprint, and Novartis. P. Valent is on the advisory board of and has received honoraria from Novartis, Blueprint, Deciphera, Celgene/BMS, Incyte, and Novartis. H.-P. Horny is on the advisory board of and has received honoraria from Novartis, Deciphera, and Blueprint Medicines. The rest of the authors declare that they have no relevant conflicts of interest. Publisher Copyright: © 2022
PY - 2022/8
Y1 - 2022/8
N2 - Pathology plays a central role in the diagnosis of systemic mastocytosis (SM), its delineation from other neoplasms and reactive conditions, and in monitoring of SM under therapy. The morphologic hallmark of SM is the accumulation of spindle-shaped, hypogranulated mast cells (MCs) in bone marrow (BM) and other extracutaneous tissues. Four of the 5 World Health Organization–defined diagnostic criteria (ie, compact MC aggregates [=major criterion]; atypical MC morphology; activating KIT point mutations; aberrant expression of CD25 and/or CD2 and/or CD30 in MCs [=minor criteria]) can be addressed by the pathologist. The final classification of SM variants as either BM mastocytosis, indolent SM, smoldering SM, aggressive SM (ASM), SM with an associated hematologic neoplasm (SM-AHN), or MC leukemia (MCL) has important prognostic significance and requires the integration of certain morphological, clinical, radiological, and biochemical data, referred to as B- and C-findings. Substantial diagnostic challenges may be posed to the pathologist and clinician especially in the so-called advanced SM variants, that is, ASM, MCL, and SM-AHN. In this article, updated recommendations of the EU-US Cooperative Group regarding standards of pathology in the diagnosis of SM, presented during the year 2020 Working Conference held in September in Vienna, are reported.
AB - Pathology plays a central role in the diagnosis of systemic mastocytosis (SM), its delineation from other neoplasms and reactive conditions, and in monitoring of SM under therapy. The morphologic hallmark of SM is the accumulation of spindle-shaped, hypogranulated mast cells (MCs) in bone marrow (BM) and other extracutaneous tissues. Four of the 5 World Health Organization–defined diagnostic criteria (ie, compact MC aggregates [=major criterion]; atypical MC morphology; activating KIT point mutations; aberrant expression of CD25 and/or CD2 and/or CD30 in MCs [=minor criteria]) can be addressed by the pathologist. The final classification of SM variants as either BM mastocytosis, indolent SM, smoldering SM, aggressive SM (ASM), SM with an associated hematologic neoplasm (SM-AHN), or MC leukemia (MCL) has important prognostic significance and requires the integration of certain morphological, clinical, radiological, and biochemical data, referred to as B- and C-findings. Substantial diagnostic challenges may be posed to the pathologist and clinician especially in the so-called advanced SM variants, that is, ASM, MCL, and SM-AHN. In this article, updated recommendations of the EU-US Cooperative Group regarding standards of pathology in the diagnosis of SM, presented during the year 2020 Working Conference held in September in Vienna, are reported.
KW - Associated hematologic neoplasm
KW - CD117
KW - CD25
KW - Diagnosis
KW - Diagnostic criteria
KW - Immunohistochemistry
KW - KIT p.D816V
KW - Mast cell
KW - Mastocytosis
KW - Pathology
KW - Tryptase
U2 - 10.1016/j.jaip.2022.05.036
DO - 10.1016/j.jaip.2022.05.036
M3 - Article
C2 - 35724949
AN - SCOPUS:85135722907
SN - 2213-2198
VL - 10
SP - 1986-1998.e2
JO - The Journal of Allergy and Clinical Immunology: In Practice
JF - The Journal of Allergy and Clinical Immunology: In Practice
IS - 8
ER -