Abstract
Autoimmune myelofibrosis is a rare, distinct clinicopathological entity that can occur in isolation (primary) or in association with systemic autoimmune disorders (secondary), such as systemic lupus erythematosus and Sjogren’s syndrome. This disease is characterized by isolated or combined chronic cytopenias associated with autoimmune phenomena and bone-marrow fibrosis. Due to the rarity of this disease, patients are frequently misdiagnosed as having primary myelofibrosis, the most common form of bone-marrow fibrosis. Distinguishing between both disease entities is essential given the drastic therapeutic and prognostic differences between both disorders. We report a case of primary autoimmune myelofibrosis presenting with severe isolated anemia refractory to multiple lines of therapy. This patient was initially misdiagnosed as primary myelofibrosis. The absence of the characteristic features of primary myelofibrosis and the lack of a clonal abnormality on cytogenetic and molecular studies, particularly JAK2, CALR, and MPL mutation analyses, confirmed the absence of an aberrant neoplastic process. Furthermore, the presence of monoclonal T-cell receptor gamma gene rearrangements delineated the presence of an autoimmune disorder supporting our diagnosis of primary autoimmune myelofibrosis.
Similar content being viewed by others
References
Barosi G. Myelofibrosis with myeloid metaplasia: diagnostic definition and prognostic classification for clinical studies and treatment guidelines. J Clin Oncol. 1999;17:2954–70.
McCarthy DM. Annotation. Fibrosis of the bone marrow: content and causes. Br J Haematol. 1985;59:1–7.
Kuter DJ, Bain B, Mufti G, Bagg A, Hasserjian RP. Bone marrow fibrosis: pathophysiology and clinical significance of increased bone marrow stromal fibres. Br J Haematol. 2007;139:351–62.
Tefferi A. Myelofibrosis with myeloid metaplasia. N Engl J Med. 2000;342:1255–65.
Harrison JS, Corcoran KE, Joshi D, Sophacleus C, Rameshwar P. Peripheral monocytes and CD4+ cells are potential sources for increased circulating levels of TGF-beta and substance P in autoimmune myelofibrosis. Am J Hematol. 2006;81:51–8.
Tefferi A, Thiele J, Orazi A, et al. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel. Blood. 2007;110:1092–7.
Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia. 2010;24:1128–38.
Rizzi R, Pastore D, Liso A, et al. Autoimmune myelofibrosis: report of three cases and review of the literature. Leuk Lymphoma. 2004;45:561–6.
Paquette RL, Meshkinpour A, Rosen PJ. Autoimmune myelofibrosis. A steroid-responsive cause of bone marrow fibrosis associated with systemic lupus erythematosus. Medicine (Baltimore). 1994;73:145–52.
Pullarkat V, Bass RD, Gong JZ, Feinstein DI, Brynes RK. Primary autoimmune myelofibrosis: definition of a distinct clinicopathologic syndrome. Am J Hematol. 2003;72:8–12.
Vergara-Lluri ME, Piatek CI, Pullarkat V, et al. Autoimmune myelofibrosis: an update on morphologic features in 29 cases and review of the literature. Hum Pathol. 2014;45:2183–91.
Chalayer E, Ffrench M, Cathebras P. Bone marrow fibrosis as a feature of systemic lupus erythematosus: a case report and literature review. Springerplus. 2014;3:349.
Thiele J, Kvasnicka HM, Facchetti F, Franco V, van der Walt J, Orazi A. European consensus on grading bone marrow fibrosis and assessment of cellularity. Haematologica. 2005;90:1128–32.
Jaffe ES, Krenacs L, Raffeld M. Classification of T-cell and NK-cell neoplasms based on the REAL classification. Ann Oncol. 1997;8(Suppl 2):17–24.
Wlodarski MW, Nearman Z, Jankowska A, et al. Phenotypic differences between healthy effector CTL and leukemic LGL cells support the notion of antigen-triggered clonal transformation in T-LGL leukemia. J Leukoc Biol. 2008;83:589–601.
Barcellini W, Revelli N, Imperiali FG, et al. Comparison of traditional methods and mitogen-stimulated direct antiglobulin test for detection of anti-red blood cell autoimmunity. Int J Hematol. 2010;91:762–9.
Barcellini W, Iurlo A, Radice T, et al. Increased prevalence of autoimmune phenomena in myelofibrosis: relationship with clinical and morphological characteristics, and with immunoregulatory cytokine patterns. Leuk Res. 2013;37:1509–15.
Author information
Authors and Affiliations
Corresponding author
About this article
Cite this article
Abaza, Y., Yin, C.C., Bueso-Ramos, C.E. et al. Primary autoimmune myelofibrosis: a case report and review of the literature. Int J Hematol 105, 536–539 (2017). https://doi.org/10.1007/s12185-016-2129-5
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12185-016-2129-5