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Poor applicability of currently available prognostic scoring systems for prediction of outcome in KIT D816V-negative advanced systemic mastocytosis

Within our nationwide registry, we identified a KIT D816V mutation (KIT D816Vpos.) in 280/299 (94%) patients with advanced systemic mastocytosis (AdvSM). Age, cytopenias and the presence of additional somatic mutations confer inferior overall survival (OS). However, little is known about the charact...

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Main Authors: Naumann, Nicole (Author) , Rudelius, Martina (Author) , Lübke, Johannes (Author) , Christen, Deborah (Author) , Bresser, Jakob (Author) , Sotlar, Karl (Author) , Metzgeroth, Georgia (Author) , Fabarius, Alice (Author) , Hofmann, Wolf-Karsten (Author) , Panse, Jens Peter (Author) , Horny, Hans-Peter (Author) , Cross, Nicholas C. P. (Author) , Reiter, Andreas (Author) , Schwaab, Juliana (Author)
Format: Article (Journal)
Language:English
Published: 30 January 2024
In: Cancers
Year: 2024, Volume: 16, Issue: 3, Pages: 1-18
ISSN:2072-6694
DOI:10.3390/cancers16030593
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.3390/cancers16030593
Verlag, kostenfrei, Volltext: https://www.mdpi.com/2072-6694/16/3/593
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Author Notes:Nicole Naumann, Martina Rudelius, Johannes Lübke, Deborah Christen, Jakob Bresser, Karl Sotlar, Georgia Metzgeroth, Alice Fabarius, Wolf-Karsten Hofmann, Jens Panse, Hans-Peter Horny, Nicholas C.P. Cross, Andreas Reiter and Juliana Schwaab
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Summary:Within our nationwide registry, we identified a KIT D816V mutation (KIT D816Vpos.) in 280/299 (94%) patients with advanced systemic mastocytosis (AdvSM). Age, cytopenias and the presence of additional somatic mutations confer inferior overall survival (OS). However, little is known about the characteristics of KIT D816V-negative (D816Vneg.) AdvSM. In 19 D816Vneg. patients, a combination of clinical, morphological and genetic features revealed three subgroups: (a) KIT D816H- or Y-positive SM (KIT D816H/Ypos., n = 7), predominantly presenting as mast cell leukemia (MCL; 6/7 patients), (b) MCL with negative KIT sequencing (KITneg. MCL, n = 7) and (c) KITneg. SM with associated hematologic neoplasm (KITneg. SM-AHN, n = 5). Although >70% of patients in the two MCL cohorts (KIT D816H/Ypos. and KITneg.) were classified as low/intermediate risk according to prognostic scoring systems (PSS), treatment response was poor and median OS was shorter than in a KIT D816Vpos. MCL control cohort (n = 29; 1.7 vs. 0.9 vs. 2.6 years; p < 0.04). The KITneg. SM-AHN phenotype was dominated by the heterogeneous AHN (low mast cell burden, presence of additional mutations) with a better median OS of 4.5 years. We conclude that (i) in MCL, negativity for D816V is a relevant prognostic factor and (ii) PSS fail to correctly classify D816Vneg. patients.
Item Description:Gesehen am 18.06.2024
Physical Description:Online Resource
ISSN:2072-6694
DOI:10.3390/cancers16030593

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