Primary autoimmune myelofibrosis in a 36-year-old patient presenting with isolated extreme anemia

Santos, Fábio Pires de Souza; Konoplev, Sergej; Lü, Huifang; Verstovšek, Srđan

doi:10.1016/j.leukres.2009.08.026

Cited by 9 publications

(3 citation statements)

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“…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.…”

Section: Introductionmentioning

confidence: 99%

Autoimmune Myelofibrosis: Clinical Features, Course, and Outcome

Piatek¹,

Vergara‐Lluri

Pullarkat

et al. 2017

Acta Haematol

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Background: Autoimmune myelofibrosis (AIMF) is an underrecognized cause of nonmalignant bone marrow fibrosis which occurs in the presence or absence of a defined systemic autoimmune disease. Patients with AIMF present with cytopenias and autoantibodies, and have a distinctive nonclonal myelofibrosis on bone marrow examination. AIMF is distinguished from primary myelofibrosis by the absence of splenomegaly, eosinophilia, or basophilia, and the absence of abnormal myeloid, erythroid, or megakaryocytic morphology. Objectives: The objective of the study was to describe the clinical presentation and outcomes of patients with AIMF. Methods: We conducted a single-institution, retrospective chart review of patients diagnosed with AIMF to investigate clinical presentations, therapies, and outcomes. Results: Twelve patients with AIMF were identified with a mean follow-up of 5.8 years. All patients had detectable autoantibodies and the majority had concomitant autoimmune disorders. Four patients experienced a complete response of cytopenias and 3 patients experienced a partial response (PR) of cytopenias with immunosuppressive therapy. One patient achieved a PR following splenectomy. No patients were diagnosed with myeloproliferative neoplasms during the follow-up period. Conclusions: AIMF contributes to cytopenias in the subset of patients with various autoimmune disorders. The majority of patients with AIMF experience an improvement in cytopenias with immunosuppressive therapy.

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Section: Introductionmentioning

confidence: 99%

Autoimmune Myelofibrosis: Clinical Features, Course, and Outcome

Piatek¹,

Vergara‐Lluri

Pullarkat

et al. 2017

Acta Haematol

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“…Our case report together with others demonstrates that the collection of a good clinical history remains paramount in the era of modern molecular technologies. 12 Altogether, clinical history, with additional pathomorphologic criteria and clonal markers, is important in making a correct diagnosis of PMF. Currently, both patients are on maintenance steroids with completely normal blood counts.…”

Section: Resultsmentioning

confidence: 99%

A case of mistaken identity: When lupus masquerades as primary myelofibrosis

Hasrouni

Rogers

Tabarroki

et al. 2013

SAGE Open Medical Case Reports

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Introduction:Autoimmune myelofibrosis is an uncommon hematologic disease characterized by anemia, bone marrow myelofibrosis, and an autoimmune feature. Myelofibrosis is often associated with other conditions, including infections, nutritional/endocrine dysfunction, toxin/drug exposure, and connective tissue diseases, including scleroderma and systemic lupus erythematosus. Absence of clonal markers (JAK2) and heterogeneity of the symptoms often complicate the diagnosis.Case presentation:Here, we present two cases of systemic lupus erythematosus–induced autoimmune myelofibrosis. The first case is of a 36-year-old African American female with diagnosis of systemic lupus erythematosus at the age of 12 years. The second patient is a 44-year-old African American male with family history of systemic lupus erythematosus who developed anemia and constitutional symptoms later on. Both patients showed hypercellularity and fibrotic changes of the bone marrow. Moreover, mutational analysis showed that both patients were wild type for JAK2 (V617F and exon 12) and MPL (exon 10).Conclusions:These two cases illustrate that anemic patients with fibrotic changes in the bone marrow without other clinicopathologic features associated with primary myelofibrosis in the presence of clinical manifestations and history of an autoimmune disease should suggest an autoimmune myelofibrosis. These cases demonstrate that a good clinical history combined with molecular technologies and pathomorphologic criteria are helpful in distinguishing between primary myelofibrosis and a nonclonal myelofibrosis from an associated condition.

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“…Clonality and mutations in JAK2 , MPL , or CALR are found in 90% of the cases. It is extremely important to differentiate AIMF from PMF, since the clinical course, prognosis, and treatment are vastly different [ 2 , 3 ].…”

Section: Discussionmentioning

confidence: 99%