1 23
Indian Journal of Hematology and
Blood Transfusion
ISSN 0971-4502
Indian J Hematol Blood Transfus
DOI 10.1007/s12288-019-01225-3
Systemic Mastocytosis with Associated
Primary Myelofibrosis
Marianna Greco, Giovanni Caocci,
Roberto Mascia, Sonia Nemolato,
Margherita Deidda, Maria Pina Simula,
Maria Pina Barca, et al.
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”.
I M A G E S
Systemic Mastocytosis with Associated Primary Myelofibrosis
Marianna Greco1•Giovanni Caocci2 •Roberto Mascia3•Sonia Nemolato1•
Margherita Deidda4•Maria Pina Simula2•Maria Pina Barca4• Sandra Orru`1•
Giorgio La Nasa2
Received: 29 September 2019 / Accepted: 19 October 2019 Ó Indian Society of Hematology and Blood Transfusion 2019
Keywords Systemic mastocytosis Myelofibrosis SM-AHN KIT
Systemic mastocytosis (SM) is a chronic myeloprolifera-tive neoplasm characterized by the infiltration of atypical mast cells (MC). The major SM diagnostic criterion is the multifocal clustering of mast cells in the bone marrow. Minor SM criteria include an abnormal MC morphology and expression of CD25/CD2, an activating mutation at codon 816 of KIT, and a persistent serum tryptase con-centration of [ 20 ng/mL. When the major and at least 1 minor criterion or 3 minor criteria are fulfilled, the SM diagnosis is established. The World Health Organization (WHO) classification has recently recognized a subgroup of SM with an associated hematological neoplasm (SM-AHN), which is characterized by the presence of a con-current neoplasm [1]. We present the case of a 72-year old
woman suffering from SM associated with myelofibrosis (MF) referred to our center due to mild anemia and leukocytosis (Hb, 10.2 g/dL, WBC, 11,900/mm3, PLT, 368,000/mm3). The patient complained of fatigue, pruritus and weight loss. Physical examination revealed spleno-megaly; Jak2V617F mutation and c-kit D816V mutation were detected. Basal tryptase value was 80.4 ng/mL.
Bone marrow flow cytometry showed aberrant CD2-CD25 expression in 5.5% of MC.
The bone marrow trephine biopsy showed:
A. Maturation defects of megakaryocytes with bulbous and naked nuclei (H&E, 20 9); B. Diffuse and dense increase in reticulin fibers (MF2) (Argentic staining, 20 9); C. Mastocytes are round to spindle-shaped cells, which have a clarified cytoplasm organized in aggregates of more than 15 elements (H&E, 40 9); D. Marked CD117 cytoplasmic positivity in MC (40 9).
& Giovanni Caocci giovanni.caocci@unica.it
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
Indian J Hematol Blood Transfus
https://doi.org/10.1007/s12288-019-01225-3
We described the second case of association between SM and MF on the basis of the 2016 WHO classification. Xu and Xu previously reported a myeloproliferative neo-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 WHO criteria [2].
Patients with SM often report unspecific symptoms secondary to histamine MC degranulation such as head-ache attacks, skin flushing, hypotensive crises, tachycardia, gastrointestinal complaints, osteopenia or osteoporosis. The most common triggers is an acute anaphylactoid reaction, caused by wasp or bee stings. Our patient was prescribed adrenaline fastject in case of anaphylactic reaction and started a treatment based on histamine H1-and H2-antagonist.
According to the International Prognostic Scoring Sys-tem (IPSS) for MF (age [ 60; WBC [ 25,000/mm3; blast in blood [ 1%; Hb \ 10 g/dL and systemic B symptoms), the patient was considered intermediate-2 score, with a
median survival time of 48 months (range 3–59). She was initially treated with low dose of hydroxyurea (500 mg/day) and it is planned to start with ruxolitinib [3].
References
1. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Beau MML et al (2016) The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 127(20):2391–2405
2. Xu RZ, Xu Z (2018) Systemic mastocytosis with an associated hematological neoplasm masquerading as overt primary myelofi-brosis. Blood 132(24):2613
3. Cervantes F, Dupriez B, Pereira A, Passamonti F, Reilly JT, Morra E et al (2009) New prognostic scoring system for primary myelofibrosis based on a study of the International Working Group for Myelofibrosis Research and Treatment. Blood 113(13):2895–2901
Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Indian J Hematol Blood Transfus