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Systemic Mastocytosis with Associated Primary Myelofibrosis Systemic Mastocytosis with Associated Primary Myelofibrosis Marianna Greco, Giovanni Caocci, Roberto Mascia, Sonia Nemolato, Margherita Deidda, Maria Pina Simula, Maria Pina Barca, et al. Indian Journal of Hematology and Blood Transfusion ISSN 0971-4502 Indian J Hematol Blood Transfus DOI 10.1007/s12288-019-01225-3 1 23 Your article is protected by copyright and all rights are held exclusively by Indian Society of Hematology and Blood Transfusion. This e- offprint is for personal use only and shall not be self-archived in electronic repositories. If you wish to self-archive your article, please use the accepted manuscript version for posting on your own website. You may further deposit the accepted manuscript version in any repository, provided it is only made publicly available 12 months after official publication or later and provided acknowledgement is given to the original source of publication and a link is inserted to the published article on Springer's website. The link must be accompanied by the following text: "The final publication is available at link.springer.com”. 1 23 Author's personal copy Indian J Hematol Blood Transfus https://doi.org/10.1007/s12288-019-01225-3 IMAGES Systemic Mastocytosis with Associated Primary Myelofibrosis 1 2 3 1 Marianna Greco • Giovanni Caocci • Roberto Mascia • Sonia Nemolato • 4 2 4 1 Margherita Deidda • Maria Pina Simula • Maria Pina Barca • Sandra Orru` • Giorgio La Nasa2 Received: 29 September 2019 / Accepted: 19 October 2019 Ó Indian Society of Hematology and Blood Transfusion 2019 Keywords Systemic mastocytosis Á Myelofibrosis Á SM- woman suffering from SM associated with myelofibrosis AHN Á KIT (MF) referred to our center due to mild anemia and leukocytosis (Hb, 10.2 g/dL, WBC, 11,900/mm3, PLT, Systemic mastocytosis (SM) is a chronic myeloprolifera- 368,000/mm3). The patient complained of fatigue, pruritus tive neoplasm characterized by the infiltration of atypical and weight loss. Physical examination revealed spleno- mast cells (MC). The major SM diagnostic criterion is the megaly; Jak2V617F mutation and c-kit D816V mutation multifocal clustering of mast cells in the bone marrow. were detected. Basal tryptase value was 80.4 ng/mL. Minor SM criteria include an abnormal MC morphology Bone marrow flow cytometry showed aberrant CD2- and expression of CD25/CD2, an activating mutation at CD25 expression in 5.5% of MC. codon 816 of KIT, and a persistent serum tryptase con- The bone marrow trephine biopsy showed: centration of [ 20 ng/mL. When the major and at least 1 A. Maturation defects of megakaryocytes with bulbous minor criterion or 3 minor criteria are fulfilled, the SM and naked nuclei (H&E, 20 9); B. Diffuse and dense diagnosis is established. The World Health Organization increase in reticulin fibers (MF2) (Argentic staining, (WHO) classification has recently recognized a subgroup 20 9); C. Mastocytes are round to spindle-shaped cells, of SM with an associated hematological neoplasm (SM- which have a clarified cytoplasm organized in aggregates AHN), which is characterized by the presence of a con- of more than 15 elements (H&E, 40 9); D. Marked current neoplasm [1]. We present the case of a 72-year old CD117 cytoplasmic positivity in MC (40 9). & Giovanni Caocci [email protected] 1 Anatomia Patologica, P.O. Businco, Azienda Ospedaliera Brotzu, Cagliari, Italy 2 Dipartimento di Scienze Mediche e Sanita` Pubblica, SC Ematologia e CTMO, Ospedale Businco, P.O. Businco, Universita` di Cagliari, Azienda Ospedaliera Brotzu, Via Jenner, sn, 09124 Cagliari, Italy 3 Anatomia Paologica, P.O. SS. Trinita`, Azienda Tutela Salute Sardegna, Cagliari, Italy 4 Allergologia e Immunologia clinica, Policlinico, Azienda Ospedaliera Universitaria, Universita` di Cagliari, Cagliari, Italy 123 Author's personal copy Indian J Hematol Blood Transfus We described the second case of association between median survival time of 48 months (range 3–59). She was SM and MF on the basis of the 2016 WHO classification. initially treated with low dose of hydroxyurea Xu and Xu previously reported a myeloproliferative neo- (500 mg/day) and it is planned to start with ruxolitinib [3]. plasm with splenomegaly in a 62-year-old woman. Biopsy results showed MF3 fibrosis and CD117 highlighted mul- tifocal infiltrates of spindle-shaped/atypical MC in aggre- gates, consistent with the diagnosis of SM-AHN per 2016 References WHO criteria [2]. Patients with SM often report unspecific symptoms 1. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Beau MML et al (2016) The 2016 revision to the World Health secondary to histamine MC degranulation such as head- Organization classification of myeloid neoplasms and acute ache attacks, skin flushing, hypotensive crises, tachycardia, leukemia. Blood 127(20):2391–2405 gastrointestinal complaints, osteopenia or osteoporosis. 2. Xu RZ, Xu Z (2018) Systemic mastocytosis with an associated The most common triggers is an acute anaphylactoid hematological neoplasm masquerading as overt primary myelofi- brosis. Blood 132(24):2613 reaction, caused by wasp or bee stings. Our patient was 3. Cervantes F, Dupriez B, Pereira A, Passamonti F, Reilly JT, Morra prescribed adrenaline fastject in case of anaphylactic E et al (2009) New prognostic scoring system for primary reaction and started a treatment based on histamine H1- myelofibrosis based on a study of the International Working Group and H2-antagonist. for Myelofibrosis Research and Treatment. Blood 113(13):2895–2901 According to the International Prognostic Scoring Sys- 3 tem (IPSS) for MF (age [ 60; WBC [ 25,000/mm ; blast Publisher’s Note Springer Nature remains neutral with regard to in blood [ 1%; Hb \ 10 g/dL and systemic B symptoms), jurisdictional claims in published maps and institutional affiliations. the patient was considered intermediate-2 score, with a 123.
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