eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
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1/2021
vol. 46
 
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abstract:
Case report

Co-occurrence of unclassified myeloproliferative neoplasm and giant cell arteritis in a patient treated with allogeneic hematopoietic stem cell transplantation: a case report and literature review

Aleksandra Bogucka-Fedorczuk
1
,
Anna Czyż
1
,
Andrzej Szuba
2, 3
,
Marcin M. Machnicki
4, 5
,
Monika Pępek
4, 5
,
Rafał Płoski
6
,
Tomasz Stokłosa
4
,
Tomasz Wróbel
1

  1. Department of Hematology, Wroclaw Medical University, Wroclaw, Poland
  2. Division of Angiology, Wroclaw Medical University, Wroclaw, Poland
  3. Department of Internal Medicine, 4th Military Hospital in Wroclaw, Wroclaw, Poland
  4. Department of Tumor Biology and Genetics, Medical University of Warsaw, Warsaw, Poland
  5. Postgraduate School of Molecular Medicine, Warsaw, Poland
  6. Department of Medical Genetics, Center of Biostructure Research, Medical University of Warsaw, Warsaw, Poland
Cent Eur J Immunol 2021; 46 (1): 121-126
DOI: https://doi.org/10.5114/ceji.2019.83140
Online publish date: 2021/04/18
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Myeloproliferative neoplasms (MPNs) are a group of hematologic disorders characterized by clonal proliferation of myeloid lineage cells. The diagnostic criteria are based on morphological features of bone marrow and peripheral blood cells but also include specific genomic mutations.

In some patients, co-occurrence of hematologic and rheumatic diseases could be observed. To date, most of the reported cases concerned patients with myelodysplastic syndrome (MDS) or essential thrombocythemia (ET).

In this paper, we present a case of a patient with a complicated diagnostic process leading to the diagnosis of unclassified MPN and giant cell arteritis (GCA). Routine tests did not reveal any mutations typical for MPNs such as JAK-2, CALR, MPL or BCR-ABL. Targeted next-generation sequencing (NGS) helped to confirm the diagnosis by demonstrating the presence of heterozygous ASXL1, TET2, SRSF2, and CBL mutations. The second important issue was the overlapping of symptoms of MPN and seronegative rheumatic disease, which finally was diagnosed as GCA. Leukocytosis and musculoskeletal pain, which were present at the time of diagnosis, resolved after allogeneic hematopoietic stem cell transplantation but recurred after a few months along with decreasing donor cell chimerism. Differentiation of the causes of recurrence of the symptoms was an important issue. This case shows the diagnostic challenge posed by co-incidence of MPN and rheumatic disease, especially its atypical variants.
keywords:

myeloproliferative neoplasm, next-generation sequencing, allogeneic stem cell transplantation, giant cell arteritis
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