Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event
To explore the molecular profile and its prognostic implication in systemic mastocytosis (SM), we analyzed the mutation status of granulocyte–macrophage colony-forming progenitor cells (CFU-GM) in patients with KIT D816V+ indolent SM (ISM, n=4), smoldering SM (SSM, n=2), aggressive SM (ASM, n=1), SM...
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| Hauptverfasser: | , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
08 January 2015
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| In: |
Leukemia
Year: 2015, Jahrgang: 29, Heft: 5, Pages: 1115-1122 |
| ISSN: | 1476-5551 |
| DOI: | 10.1038/leu.2015.4 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1038/leu.2015.4 Verlag, Volltext: https://www-nature-com.ezproxy.medma.uni-heidelberg.de/articles/leu20154 
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| Verfasserangaben: | M. Jawhar, J. Schwaab, S. Schnittger, K. Sotlar, H.-P. Horny, G. Metzgeroth, N. Müller, S. Schneider, N. Naumann, C. Walz, T. Haferlach, P. Valent, W.-K. Hofmann, N.C.P. Cross, A. Fabarius and A. Reiter |
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| 245 | 1 | 0 | |a Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event |c M. Jawhar, J. Schwaab, S. Schnittger, K. Sotlar, H.-P. Horny, G. Metzgeroth, N. Müller, S. Schneider, N. Naumann, C. Walz, T. Haferlach, P. Valent, W.-K. Hofmann, N.C.P. Cross, A. Fabarius and A. Reiter |
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| 520 | |a To explore the molecular profile and its prognostic implication in systemic mastocytosis (SM), we analyzed the mutation status of granulocyte–macrophage colony-forming progenitor cells (CFU-GM) in patients with KIT D816V+ indolent SM (ISM, n=4), smoldering SM (SSM, n=2), aggressive SM (ASM, n=1), SM with associated clonal hematologic non-mast cell lineage disorder (SM-AHNMD, n=5) and ASM-AHNMD (n=7). All patients with (A)SM-AHNMD (n=12) carried 1–4 (median 3) additional mutations in 11 genes tested, most frequently TET2, SRSF2, ASXL1, CBL and EZH2. In multi-mutated (A)SM-AHNMD, KIT D816V+ single-cell-derived CFU-GM colonies were identified in 8/12 patients (median 60%, range 0–95). Additional mutations were identified in CFU-GM colonies in all patients, and logical hierarchy analysis indicated that mutations in TET2, SRSF2 and ASXL1 preceded KIT D816V. In ISM/SSM, no additional mutations were detected and CFU-GM colonies were exclusively KIT D816V−. These data indicate that (a) (A)SM-AHNMD is a multi-mutated neoplasm, (b) mutations in TET2, SRSF2 or ASXL1 precede KIT D816V in ASM-AHNMD, (c) KIT D816V is thus a phenotype modifier toward SM and (d) KIT D816V or other mutations are rare in CFU-GM colonies of ISM/SSM patients, which might explain at least in part their better prognosis. | ||
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