Systemic mastocytosis associated with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Report of three cases.
Aged
Biomarkers
Bone Marrow
/ pathology
Erythroblasts
/ pathology
Humans
Immunohistochemistry
Male
Mastocytosis, Systemic
/ complications
Mutation
Myelodysplastic Syndromes
/ complications
Myeloid Cells
/ metabolism
Myeloproliferative Disorders
/ complications
Pedigree
Proto-Oncogene Proteins c-kit
/ genetics
Thrombocytosis
/ complications
D816V KIT mutation
V617F JAK2 mutation
myelodysplastic/myeloproliferative neoplasms
ring sideroblasts
systemic mastocytosis
Journal
Hematological oncology
ISSN: 1099-1069
Titre abrégé: Hematol Oncol
Pays: England
ID NLM: 8307268
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
21
06
2019
revised:
04
09
2019
accepted:
12
09
2019
pubmed:
17
9
2019
medline:
14
1
2020
entrez:
17
9
2019
Statut:
ppublish
Résumé
The association of systemic mastocytosis with another hematologic neoplasia of myeloid or lymphoid origin is recognized as an advanced subvariant of mastocytosis. Here, we report the association of indolent or smoldering systemic mastocytosis with three cases of myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis, a recently recognized disease characterized by SF3B1 mutations. The hierarchical pattern of KIT, SF3B1, JAK2, and additional mutations was studied in whole and fractionated subpopulations of peripheral blood cells and whole bone marrow. In two cases, we could demonstrate a multilineage D816V KIT mutation, involving all myeloid lineages in one patient and also the lymphoid series in the other. Two patients displaying both SF3B1 and V617F JAK2 mutations had a very poor prognosis. Another patient bearing SF3B1, but not V617F JAK2 mutation, had a favorable response to erythropoietin treatment and long survival.
Substances chimiques
Biomarkers
0
KIT protein, human
EC 2.7.10.1
Proto-Oncogene Proteins c-kit
EC 2.7.10.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
628-633Informations de copyright
©2019 John Wiley & Sons, Ltd.
Références
Jeromin S, Haferlach T, Weissmann S, et al. Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations. Haematologica. 2015;100:125-127.
Malcovati L, Karimi M, Papaemmanuil E, et al. SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. Blood. 2015;126(2):233-241.
Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-2405.
Patnaik MM, Lasho TL, Finke CM, et al. Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing. Am J Hematol. 2016;91(5):492-498.
Horny HP, Metcalfe DD, Bennet JM, et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Lyon: IARC; 2008:54-63.
Perbellini O, Zamò A, Colarossi S, et al. Primary role of multiparametric flow cytometry in the diagnostic work-up of indolent clonal mast cell disorders. Cytometry B Clin Cytom. 2011;80:362-368.
De Matteis G, Zanotti R, Colarossi S, et al. The impact of sensitive KIT D816V detection on recognition of indolent systemic mastocytosis. Leuk Res. 2015;39(3):273-278.
D'Agaro T, Bittolo T, Bravin V, et al. NOTCH1 mutational status in chronic lymphocytic leukaemia: clinical relevance of subclonal mutations and mutation types. Br J Haematol. 2018;182(4):597-602.
Kristensen T, Broesby-Olsen S, Vestergaard H, Bindslev-Jensen C, Møller MB, the Mastocytosis Centre Odense University Hospital (MastOUH). Comparison of gDNA-based versus mRNA-based KIT D816V mutation analysis reveals large differences between blood and bone marrow in systemic mastocytosis. Br J Haematol. 2017;178(2):330-332.
Jawhar M, Schwaab J, Schnittger S, et al. Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event. Leukemia. 2015;29(5):1115-1122.
Hanssens K, Brenet F, Agopian J, et al. SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes. Haematologica. 2014;99(5):830-835.
Pardanani A, Lasho T, Elala Y, et al. Next-generation sequencing in systemic mastocytosis: derivation of a mutation-augmented clinical prognostic model for survival. Am J Hematol. 2016;91(9):888-893.
Visconte V, Tabarroki A, Rogers HJ, et al. SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype. Haematologica. 2013;98:105-107.
Muñoz-González JI, Jara-Acevedo M, Alvarez-Twose I, et al. Impact of somatic and germline mutations on the outcome of systemic mastocytosis. Blood Adv. 2018;13(2):2814-2828.
Broséus J, Alpermann T, Wulfert M, et al. Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. Leukemia. 2013;27(9):1826-1831.
Escribano L, Alvarez-Twose I, Sanchez-Munoz L, et al. Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish network on mastocytosis in a series of 145 patients. J Allergy Clin Immunol. 2009;124(3):514-521.
Sotlar K, Colak S, Bache A, et al. Variable presence of KITD816V in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD). J Pathol. 2010;220(5):586-595.