Cytogenetic and molecular aberrations and worse outcome for
male patients in systemic mastocytosis

J 2021

Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis

KLUIN-NELEMANS, H.C., M. JAWHAR, A. REITER, B. VAN ANROOIJ, J. GOTLIB et. al.

Basic information

Original name

Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis

Authors

KLUIN-NELEMANS, H.C., M. JAWHAR, A. REITER, B. VAN ANROOIJ, J. GOTLIB, K. HARTMANN, A. ILLERHAUS, H.N.G.O. ELBERINK, A. GORSKA, M. NIEDOSZYTKO, M. LANGE, L. SCAFFIDI, R. ZANOTTI, P. BONADONNA, C. PERKINS, C. ELENA, L. MALCOVATI, K. SHOUMARIYEH, N. VON BUBNOFF, S. MULLER, M. TRIGGIANI, R. PARENTE, J. SCHWAAB, M. KUNDI, A.B. FORTINA, F. CAROPPO, K. BROCKOW, A. ZINK, D. FUCHS, I. ANGELOVA-FISCHER, A,S. YAVUZ, Michael DOUBEK (203 Czech Republic, guarantor, belonging to the institution), M. MATTSSON, H. HAGGLUND, J. PANSE, A. SIMONOWSKI, V. SABATO, T. SCHUG, M. JENTZSCH, C. BREYNAERT, J. VARKONYI, V. KENNEDY, O. HERMINE, J. ROSSIGNOL, M. AROCK, P. VALENT and W.R. SPERR

Edition

Theranostics, Lake Haven, Ivyspring International Publisher, 2021, 1838-7640

Other information

Language

English

Type of outcome

Article in a journal

Field of Study

30204 Oncology

Country of publisher

Australia

Confidentiality degree

is not subject to a state or trade secret

References:

URL

Impact factor

Impact factor: 11.600

RIV identification code

RIV/00216224:14740/21:00121919

Organization unit

Central European Institute of Technology

DOI

http://dx.doi.org/10.7150/thno.51872

UT WoS

000582957500019

Keywords in English

Mastocytosis; sex difference; cytogenetics; molecular mutations; survival

Abstract

V originále

In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXLI/RUNXI profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.

Cite

KLUIN-NELEMANS, H.C., M. JAWHAR, A. REITER, B. VAN ANROOIJ, J. GOTLIB, K. HARTMANN, A. ILLERHAUS, H.N.G.O. ELBERINK, A. GORSKA, M. NIEDOSZYTKO, M. LANGE, L. SCAFFIDI, R. ZANOTTI, P. BONADONNA, C. PERKINS, C. ELENA, L. MALCOVATI, K. SHOUMARIYEH, N. VON BUBNOFF, S. MULLER, M. TRIGGIANI, R. PARENTE, J. SCHWAAB, M. KUNDI, A.B. FORTINA, F. CAROPPO, K. BROCKOW, A. ZINK, D. FUCHS, I. ANGELOVA-FISCHER, A,S. YAVUZ, Michael DOUBEK, M. MATTSSON, H. HAGGLUND, J. PANSE, A. SIMONOWSKI, V. SABATO, T. SCHUG, M. JENTZSCH, C. BREYNAERT, J. VARKONYI, V. KENNEDY, O. HERMINE, J. ROSSIGNOL, M. AROCK, P. VALENT and W.R. SPERR. Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis. Theranostics. Lake Haven: Ivyspring International Publisher, 2021, vol. 11, No 1, p. 292-303. ISSN 1838-7640. Available from: https://dx.doi.org/10.7150/thno.51872.

@article{1781887,
   author = {KluinandNelemans, H.C. and Jawhar, M. and Reiter, A. and van Anrooij, B. and Gotlib, J. and Hartmann, K. and Illerhaus, A. and Elberink, H.N.G.O. and Gorska, A. and Niedoszytko, M. and Lange, M. and Scaffidi, L. and Zanotti, R. and Bonadonna, P. and Perkins, C. and Elena, C. and Malcovati, L. and Shoumariyeh, K. and von Bubnoff, N. and Muller, S. and Triggiani, M. and Parente, R. and Schwaab, J. and Kundi, M. and Fortina, A.B. and Caroppo, F. and Brockow, K. and Zink, A. and Fuchs, D. and AngelovaandFischer, I. and Yavuz, A,S. and Doubek, Michael and Mattsson, M. and Hagglund, H. and Panse, J. and Simonowski, A. and Sabato, V. and Schug, T. and Jentzsch, M. and Breynaert, C. and Varkonyi, J. and Kennedy, V. and Hermine, O. and Rossignol, J. and Arock, M. and Valent, P. and Sperr, W.R.},
   article_location = {Lake Haven},
   article_number = {1},
   doi = {http://dx.doi.org/10.7150/thno.51872},
   keywords = {Mastocytosis; sex difference; cytogenetics; molecular mutations; survival},
   language = {eng},
   issn = {1838-7640},
   journal = {Theranostics},
   title = {Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis},
   url = {https://www.thno.org/v11p0292.htm},
   volume = {11},
   year = {2021}
}

TY  - JOUR
ID  - 1781887
AU  - Kluin-Nelemans, H.C. - Jawhar, M. - Reiter, A. - van Anrooij, B. - Gotlib, J. - Hartmann, K. - Illerhaus, A. - Elberink, H.N.G.O. - Gorska, A. - Niedoszytko, M. - Lange, M. - Scaffidi, L. - Zanotti, R. - Bonadonna, P. - Perkins, C. - Elena, C. - Malcovati, L. - Shoumariyeh, K. - von Bubnoff, N. - Muller, S. - Triggiani, M. - Parente, R. - Schwaab, J. - Kundi, M. - Fortina, A.B. - Caroppo, F. - Brockow, K. - Zink, A. - Fuchs, D. - Angelova-Fischer, I. - Yavuz, A,S. - Doubek, Michael - Mattsson, M. - Hagglund, H. - Panse, J. - Simonowski, A. - Sabato, V. - Schug, T. - Jentzsch, M. - Breynaert, C. - Varkonyi, J. - Kennedy, V. - Hermine, O. - Rossignol, J. - Arock, M. - Valent, P. - Sperr, W.R.
PY  - 2021
TI  - Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis
JF  - Theranostics
VL  - 11
IS  - 1
SP  - 292-303
EP  - 292-303
PB  - Ivyspring International Publisher
SN  - 18387640
KW  - Mastocytosis
KW  - sex difference
KW  - cytogenetics
KW  - molecular mutations
KW  - survival
UR  - https://www.thno.org/v11p0292.htm
N2  - In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXLI/RUNXI profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.
ER  -

KLUIN-NELEMANS, H.C., M. JAWHAR, A. REITER, B. VAN ANROOIJ, J. GOTLIB, K. HARTMANN, A. ILLERHAUS, H.N.G.O. ELBERINK, A. GORSKA, M. NIEDOSZYTKO, M. LANGE, L. SCAFFIDI, R. ZANOTTI, P. BONADONNA, C. PERKINS, C. ELENA, L. MALCOVATI, K. SHOUMARIYEH, N. VON BUBNOFF, S. MULLER, M. TRIGGIANI, R. PARENTE, J. SCHWAAB, M. KUNDI, A.B. FORTINA, F. CAROPPO, K. BROCKOW, A. ZINK, D. FUCHS, I. ANGELOVA-FISCHER, A,S. YAVUZ, Michael DOUBEK, M. MATTSSON, H. HAGGLUND, J. PANSE, A. SIMONOWSKI, V. SABATO, T. SCHUG, M. JENTZSCH, C. BREYNAERT, J. VARKONYI, V. KENNEDY, O. HERMINE, J. ROSSIGNOL, M. AROCK, P. VALENT and W.R. SPERR. Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis. \textit{Theranostics}. Lake Haven: Ivyspring International Publisher, 2021, vol.~11, No~1, p.~292-303. ISSN~1838-7640. Available from: https://dx.doi.org/10.7150/thno.51872.

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