Systemic mastocytosis associated with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Report of three cases

Elda Mimiola; Riccardo Bomben; Giovanna De Matteis; Omar Perbellini; Paola Guglielmelli; Massimiliano Bonifacio; Alice Parisi; Valter Gattei; Alberto Zamò; Francesco Mannelli; Andrés Celestino García Montero; Roberta Zanotti

doi:10.1002/hon.2680

Systemic mastocytosis associated with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Report of three cases

Elda Mimiola, Riccardo Bomben, Giovanna De Matteis, Omar Perbellini, Paola Guglielmelli, Massimiliano Bonifacio, Alice Parisi, Valter Gattei, Alberto Zamò, Francesco Mannelli, Andrés Celestino García Montero, Roberta Zanotti

Centro di Riferimento Oncologico

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	628-633
Number of pages	6
Journal	Hematological Oncology
Volume	37
Issue number	5
DOIs	https://doi.org/10.1002/hon.2680
Publication status	Published - Dec 1 2019

Keywords

D816V KIT mutation
myelodysplastic/myeloproliferative neoplasms
ring sideroblasts
systemic mastocytosis
V617F JAK2 mutation

ASJC Scopus subject areas

Hematology
Oncology
Cancer Research

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Mimiola, E., Bomben, R., De Matteis, G., Perbellini, O., Guglielmelli, P., Bonifacio, M., Parisi, A., Gattei, V., Zamò, A., Mannelli, F., García Montero, A. C., & Zanotti, R. (2019). Systemic mastocytosis associated with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Report of three cases. Hematological Oncology, 37(5), 628-633. https://doi.org/10.1002/hon.2680

Systemic mastocytosis associated with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis : Report of three cases. / Mimiola, Elda; Bomben, Riccardo; De Matteis, Giovanna; Perbellini, Omar; Guglielmelli, Paola; Bonifacio, Massimiliano; Parisi, Alice; Gattei, Valter; Zamò, Alberto; Mannelli, Francesco; García Montero, Andrés Celestino; Zanotti, Roberta.

In: Hematological Oncology, Vol. 37, No. 5, 01.12.2019, p. 628-633.

Research output: Contribution to journal › Article › peer-review

Mimiola, E, Bomben, R, De Matteis, G, Perbellini, O, Guglielmelli, P, Bonifacio, M, Parisi, A, Gattei, V, Zamò, A, Mannelli, F, García Montero, AC & Zanotti, R 2019, 'Systemic mastocytosis associated with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Report of three cases', Hematological Oncology, vol. 37, no. 5, pp. 628-633. https://doi.org/10.1002/hon.2680

Mimiola, Elda ; Bomben, Riccardo ; De Matteis, Giovanna ; Perbellini, Omar ; Guglielmelli, Paola ; Bonifacio, Massimiliano ; Parisi, Alice ; Gattei, Valter ; Zamò, Alberto ; Mannelli, Francesco ; García Montero, Andrés Celestino ; Zanotti, Roberta. / Systemic mastocytosis associated with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis : Report of three cases. In: Hematological Oncology. 2019 ; Vol. 37, No. 5. pp. 628-633.

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