Primary autoimmune myelofibrosis: a case report and review of the literature.
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.
Department of Leukemia, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA.
Yasmin
Y
Abaza
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
C Cameron
CC
Yin
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Carlos E
CE
Bueso-Ramos
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Sa A
SA
Wang
Department of Leukemia, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA. sverstov@mdanderson.org.
Srdan
S
Verstovsek
D000753:Anemia, Refractory / Q000175:diagnosis / Q000188:drug therapy; D001327:Autoimmune Diseases / Q000175:diagnosis*; D001853:Bone Marrow / Q000473:pathology; D001856:Bone Marrow Examination; D003937:Diagnosis, Differential; D005260:Female; D015334:Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor; D006801:Humans; D008875:Middle Aged; D010198:Pancytopenia; D055728:Primary Myelofibrosis / Q000175:diagnosis* / Q000276:immunology
Anemia; Autoimmunity; Bone marrow fibrosis; Clonality; Cytokine; Myelofibrosis