Autoimmune Myelofibrosis: Report of Three Cases and Review of the Literature

Abstract

Autoimmune myelofibrosis is a distinct clinicopathological entity, recognizing immunopathogenetic mechanisms and occurring isolately or in association with systemic and/or organ-specific autoimmune diseases. It results in chronic cytopenias, and is defined by a pattern including bone marrow, peripheral blood, serological and clinical features. It has to be distinguished from other disorders having myelofibrosis. Among these, the most relevant differential diagnosis is with chronic idiopathic myelofibrosis, particularly when disclosing autoimmune clinical and/or laboratory features as epiphenomenon related to a secondary immune-dysregulation. Here we report on 3 patients admitted because of chronic cytopenias. In all of them, the clinicopathological evaluation essentially demonstrated myelofibrosis, not clustered megakaryocytes, reactive lymphoid infiltration in marrow biopsies, absence of significant tear-drop poikilocytosis and leukoerythroblastosis on peripheral blood smears, normal-sized spleen, positive autoimmune serology. The resulting patterns met the diagnosis of autoimmune myelofibrosis occurring isolately in a patient and associated with Sjögren's syndrome or concomitant Sjögren's syndrome and Hashimoto's thyroiditis in the other two, respectively. Transient improvements in cytopenias and unmodified myelofibrosis were observed following corticosteroid treatment. It is noteworthy the lack of a specific therapy, being the underlying pathophisiology of myelofibrosis still unclear. In conclusion, increased awareness of the clinicopathological pattern identifying autoimmune myelofibrosis is recommended in order to improve basic and clinical knowledge of this emerging entity.

Perspectives on chronic inflammation in essential thrombocythemia, polycythemia vera, and myelofibrosis: is chronic inflammation a trigger and driver of clonal evolution and development of accelerated atherosclerosis and second cancer?

“…47 Furthermore, several reports have described the concurrence of chronic inflammatory or autoimmune disease and MPNs, in particular in patients with myelofibrosis. 4,[55][56][57][58] Chronic inflammation and cancer share a common pathway, the NF-B. In cancer, including the MPNs, NF-B is misregulated and constitutively active.…”

“…5 An association between autoimmunity and myeloid cancer has been known for several years in patients with MDS, 54 and various autoimmune phenomena have also been reported in MPN patients, including immune activity in the bone marrow, circulating immune complexes, complement activation, and autoimmune cytopenias. [55][56][57][58] Second, most recent studies have shown that patients with MPNs have an increased risk of second cancer: both hematologic and nonhematologic. 52,53 This risk may be inherent and associated with the particular JAK2 46/1 haplotype.…”

Autoimmune Myelofibrosis: Clinical Features, Course, and Outcome

“…Since primary AIMF was introduced as a distinct entity by Pullarkat et al [14], sporadic case reports have described patients with this disorder [16,17,18,19]. The patients in these case reports experienced improvement or resolution of cytopenias following treatment with corticosteroids or other immunosuppressive therapies.…”

Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic Woman

“…SS has been reported to be associated with autoimmune cytopenia, aplastic anemia and lymphoid malignancies (10,11). However, AIMF is extremely rare in patients with SS, and, to the best of our knowledge, only five cases have been reported to date (3)(4)(5)(6). The majority of patients successfully responded to corticosteroids.…”