TY - JOUR
T1 - Systemic mastocytosis associated with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis
T2 - Report of three cases
AU - Mimiola, Elda
AU - Bomben, Riccardo
AU - De Matteis, Giovanna
AU - Perbellini, Omar
AU - Guglielmelli, Paola
AU - Bonifacio, Massimiliano
AU - Parisi, Alice
AU - Gattei, Valter
AU - Zamò, Alberto
AU - Mannelli, Francesco
AU - García Montero, Andrés Celestino
AU - Zanotti, Roberta
PY - 2019/12/1
Y1 - 2019/12/1
N2 - 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.
AB - 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.
KW - D816V KIT mutation
KW - myelodysplastic/myeloproliferative neoplasms
KW - ring sideroblasts
KW - systemic mastocytosis
KW - V617F JAK2 mutation
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U2 - 10.1002/hon.2680
DO - 10.1002/hon.2680
M3 - Article
C2 - 31523839
AN - SCOPUS:85074371069
VL - 37
SP - 628
EP - 633
JO - Hematological Oncology
JF - Hematological Oncology
SN - 0278-0232
IS - 5
ER -