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

• Published in: Central-European journal of immunology Vol. 46; no. 1; pp. 121 - 126
• Main Authors: Bogucka-Fedorczuk, Aleksandra, Czyż, Anna, Szuba, Andrzej, Machnicki, Marcin M, Pępek, Monika, Płoski, Rafał, Stokłosa, Tomasz, Wróbel, Tomasz
• Format: Journal Article
• Language: English
• Published: Poland Termedia Publishing House 01.01.2021
• Subjects: Abl protein; allogeneic stem cell transplantation; Arteritis; BCR protein; Blood cells; Bone marrow; Case Report; Case reports; Cell differentiation; Cell proliferation; Chimerism; Diagnosis; Fusion protein; giant cell arteritis; Hematological diseases; Hematopoietic stem cells; Leukocytosis; Literature reviews; Mutation; Myelodysplastic syndrome; Myelodysplastic syndromes; myeloproliferative neoplasm; Next-generation sequencing; Peripheral blood; Rheumatic diseases; Stem cell transplantation; Stem cells; giant cell arteritis; allogeneic stem cell transplantation; myeloproliferative neoplasm; next-generation sequencing
• ISSN: 1426-3912; 1644-4124
• DOI: 10.5114/ceji.2019.83140

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.