MDS/MPN with ringed sideroblasts and thrombocytosis, and secondary or concurrent mastocytosis: case report and literatur
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CASE REPORT
MDS/MPN with ringed sideroblasts and thrombocytosis, and secondary or concurrent mastocytosis: case report and literature review Ismail Elbaz Younes 1,2
&
Dereen Mohammed Saeed 1,2 & Nasma Majeed 1,2 & David Hakimian 2 & Redouane Boumendjel 2
Received: 7 April 2020 / Accepted: 29 July 2020 # Springer-Verlag London Ltd., part of Springer Nature 2020
Abstract Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN with RS-T), which exhibits both an increased number of marrow ring sideroblasts and thrombocytosis, is a rare disorder classified as one of the newly established forms of MDS/MPN in the WHO 2016 classification. Systemic mastocytosis (SM) is a heterogeneous group of neoplasms characterized by growth and accumulation of both cytologically and immunophenotypically abnormal mast cells in one or more body organ systems. SM can occur as a separate neoplasm but commonly is associated with other clonally related myeloid neoplasms. Herein, we present a 78year-old female with a clinical history of fatigue, dyspnea, and a compression fracture of L5. Her peripheral blood, bone marrow aspirate, and biopsy laboratory workup show features of myelodysplasia with ring sideroblasts, thrombocytosis, and clusters of mast cells in the bone marrow biopsy. Pathogenic c-KIT, MPL, and SF3B1 genes are identified by the molecular study. We present this case to point out a rare combination of systemic mastocytosis and MDS/MPN with ring sideroblasts and thrombocytosis. It is not known if the best treatment should be focused on the systemic mastocytosis or the accompanying MDS/MPN. Keywords MDS/MPN . Mastocytosis . Thrombocytosis
Introduction Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN with RST) is a rare subtype of MDS/MPN, which is characterized by thrombocytosis of greater than 450 × 109/L, ring sideroblasts with greater than 15% of marrow erythroblasts, and erythroid lineage dysplasia with less than 5% blasts in the bone marrow. Systemic mastocytosis is generally diagnosed after the second decade and has a male to female ratio ranging from 1:1 to 1:1.5 (Metcalfe 1991; Parwaresch et al. 1985). Systemic
* Ismail Elbaz Younes [email protected] 1
Department of Pathology, University of Illinois at Chicago, Chicago, IL, USA
2
Advocate Lutheran General Hospital, Park Ridge, IL, USA
mastocytosis with associated hematologic neoplasm (SMAHD) comprises between 5 and 40% of cases of SM. The prognosis of SMAHD is determined by the associated hematologic disorder. Mastocytosis or mast cell disease designates heterogeneous types of disorders that are divided into: 1. Cutaneous mastocytosis: a. Urticaria pigmentosa/maculopapular cutaneous mastocytosis b. Diffuse cutaneous mastocytosis c. Mastocytoma of skin 2. Systemic mastocytosis: a. Indolent systemic mastocytosis b. Systemic mastocytosis with an associated hematological neoplasm (SMAHD) c. Aggressive systemic mastocytosis d. Mast cell leukemia 3. Mast cell sarcoma
Comp Clin Pa
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