{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T00:54:58Z","timestamp":1777942498097,"version":"3.51.4"},"reference-count":30,"publisher":"Termedia Sp. z.o.o.","issue":"1","license":[{"start":{"date-parts":[[2021,4,18]],"date-time":"2021-04-18T00:00:00Z","timestamp":1618704000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"},{"start":{"date-parts":[[2021,4,18]],"date-time":"2021-04-18T00:00:00Z","timestamp":1618704000000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"},{"start":{"date-parts":[[2021,4,18]],"date-time":"2021-04-18T00:00:00Z","timestamp":1618704000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cent Eur J Immunol"],"abstract":"<jats:p>Myeloproliferative neoplasms (MPNs) are a\u00a0group 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.&lt;br \/&gt;\nIn 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).&lt;br \/&gt;\nIn this paper, we present a\u00a0case of a\u00a0patient with a\u00a0complicated 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\u00a0few 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.<\/jats:p>","DOI":"10.5114\/ceji.2019.83140","type":"journal-article","created":{"date-parts":[[2021,5,6]],"date-time":"2021-05-06T16:24:38Z","timestamp":1620318278000},"page":"121-126","source":"Crossref","is-referenced-by-count":2,"title":["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"],"prefix":"10.5114","volume":"46","author":[{"given":"Aleksandra","family":"Bogucka-Fedorczuk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Czy\u017c","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrzej","family":"Szuba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcin M.","family":"Machnicki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"P\u0119pek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Stok\u0142osa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Wr\u00f3bel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3061","published-online":{"date-parts":[[2021,4,18]]},"reference":[{"key":"ref-1543493","doi-asserted-by":"crossref","first-page":"3724","DOI":"10.1182\/blood-2010-05-282632","article-title":"Incidence of hematologic malignancies in Europe by morphologic subtype: results of the HAEMACARE project","volume":"116","author":"Sant M","year":"2010","unstructured":"Sant M, Allemani C, Tereanu C, et al. (2010): Incidence of hematologic malignancies in Europe by morphologic subtype: results of the HAEMACARE project. Blood 116: 3724-3734.","journal-title":"Blood"},{"key":"ref-1543494","doi-asserted-by":"crossref","first-page":"3257","DOI":"10.1016\/j.ejca.2012.05.024","article-title":"Incidence, survival and prevalence of myeloid malignancies in Europe","volume":"48","author":"Visser O","year":"2012","unstructured":"Visser O, Trama A, Maynadi\u00e9 et al. (2012): Incidence, survival and prevalence of myeloid malignancies in Europe. Eur J Cancer 48: 3257-3266.","journal-title":"Eur J Cancer"},{"key":"ref-1543495","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1007\/s12016-008-8075-0","article-title":"The Geo-epidemiology of temporal (giant cell) arteritis","volume":"35","author":"Lee JL","year":"2008","unstructured":"Lee JL, Naguwa SM, Cheema GS, Gershwin ME (2008): The Geo-epidemiology of temporal (giant cell) arteritis. Clin Rev Allergy Immunol 35: 88-95.","journal-title":"Clin Rev Allergy Immunol"},{"key":"ref-1543496","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/S0140-6736(08)61077-6","article-title":"Polymyalgia rheumatica and giant-cell arteritis","volume":"372","author":"Salvarani C","year":"2008","unstructured":"Salvarani C, Cantini F, Hunder GG (2008): Polymyalgia rheumatica and giant-cell arteritis. Lancet (London, England) 372: 234-245.","journal-title":"Lancet (London, England)"},{"key":"ref-1543497","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1002\/ajh.24722","article-title":"Targeted next generation sequencing and identification of risk factors in World Health Organization defined atypical chronic myeloid leukemia","volume":"92","author":"Patnaik MM","year":"2017","unstructured":"Patnaik MM, Barraco D, Lasho TL, et al. (2017): Targeted next generation sequencing and identification of risk factors in World Health Organization defined atypical chronic myeloid leukemia. Am J Hematol 92: 542-548.","journal-title":"Am J Hematol"},{"key":"ref-1543498","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1186\/1471-2164-15-784","article-title":"Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype","volume":"15","author":"Feurstein S","year":"2014","unstructured":"Feurstein S, R\u00fccker FG, Bullinger L, et al. (2014): Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype. BMC Genomics 15: 784.","journal-title":"BMC Genomics"},{"key":"ref-1543499","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1182\/blood-2007-06-095570","article-title":"Haploinsufficiency of CDKN1B contributes to leukemogenesis in T-cell prolymphocytic leukemia","volume":"111","author":"Le Toriellec E","year":"2008","unstructured":"Le Toriellec E, Despouy G, Pierron G, et al. (2008): Haploinsufficiency of CDKN1B contributes to leukemogenesis in T-cell prolymphocytic leukemia. Blood 111: 2321-2328.","journal-title":"Blood"},{"key":"ref-1543500","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1016\/j.leukres.2010.07.004","article-title":"Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AML","volume":"34","author":"Barresi V","year":"2010","unstructured":"Barresi V, Palumbo GA, Musso N, et al. (2010): Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AML. Leuk Res 34: 1539-1542.","journal-title":"Leuk Res"},{"key":"ref-1543501","doi-asserted-by":"crossref","first-page":"2612","DOI":"10.1182\/blood-2011-02-333435","article-title":"CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD\/AML)","volume":"119","author":"Shiba N","year":"2012","unstructured":"Shiba N, Hasegawa D, Park M, et al. (2012): CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD\/AML). 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Int J Hematol 101: 229-242.","journal-title":"Int J Hematol"},{"key":"ref-1543532","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1038\/leu.2013.133","article-title":"SETBP1 mutations occur in 9% of MDS\/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations","volume":"27","author":"Meggendorfer M","year":"2013","unstructured":"Meggendorfer M, Bacher U, Alpermann T, et al. (2013): SETBP1 mutations occur in 9% of MDS\/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. Leukemia 27: 1852-1860.","journal-title":"Leukemia"},{"key":"ref-1543533","doi-asserted-by":"crossref","first-page":"3080","DOI":"10.1182\/blood-2012-01-404863","article-title":"SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)","volume":"120","author":"Meggendorfer M","year":"2012","unstructured":"Meggendorfer M, Roller A, Haferlach T, et al. (2012): SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). Blood 120: 3080-3088.","journal-title":"Blood"},{"key":"ref-1543534","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1097\/01.md.0000180043.19285.54","article-title":"Giant cell arteritis: laboratory tests at the time of diagnosis in a series of 240 patients","volume":"84","author":"Gonzalez-Gay MA","year":"2005","unstructured":"Gonzalez-Gay MA, Lopez-Diaz MJ, Barros S, et al. (2005): Giant cell arteritis: laboratory tests at the time of diagnosis in a series of 240 patients. 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Circulation 121: 906-915.","journal-title":"Circulation"},{"key":"ref-1543545","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s00296-017-3874-3","article-title":"Long-term glucocorticoid treatment in patients with polymyalgia rheumatica, giant cell arteritis, or both diseases: results from a national rheumatology database","volume":"38","author":"Albrecht K","year":"2018","unstructured":"Albrecht K, Huscher D, Buttgereit F, et al. (2018): Long-term glucocorticoid treatment in patients with polymyalgia rheumatica, giant cell arteritis, or both diseases: results from a national rheumatology database. Rheumatol Int 38: 569-577.","journal-title":"Rheumatol Int"},{"key":"ref-1543546","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1007\/s11940-017-0440-y","article-title":"The treatment of giant cell arteritis","volume":"19","author":"Jivraj I","year":"2017","unstructured":"Jivraj I, Tamhankar M (2017): The treatment of giant cell arteritis. 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