Clinical spectrum and therapeutic management of auto-immune myelofibrosis: a nation-wide study of 30 cases

Mertz, Philippe; Chalayer, Emilie; Amoura, Zahir; Cathébras, P.; Chiche, Laurent; Coestedoat, Nathalie; Deroux, Alban; Diot, Élisabeth; Durupt, S.; Forestier, E.; Gorse, Audrey; Hudier, L.; Killian, Martin; Lambotte, Olivier; Lecomte, Claire; Ledoult, Emmanuel; Martinez, Camille; Mathian, Alexis; Morin, A.-S.; Noël, Nicolas; Chambrun, Marc Pineton de; Terriou, Louis; Sibilia, Jean; Gottenberg, Jacques-Éric; Korganow, Anne‐Sophie; Arnaud, Laurent; Martin, Thierry

doi:10.3324/haematol.2020.249896

Cited by 12 publications

(5 citation statements)

References 9 publications

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Section: Mutation and Disease Pathogenesismentioning

confidence: 99%

“…Finally, the mutation profile in triple-negative patients might help in distinguishing true clonal MF from autoimmune MF. Differentiating between a clonal disease and a secondary phenomenon is, indeed, relevant from a therapeutic standpoint, since the latter is sensitive to steroid treatment [25]. Lactate dehydrogenase (LDH) level increased to the above-upper-normal limit of the institutional reference range † In the absence of any of the three major clonal mutations, the search for the most frequent accompanying mutations (e.g., ASXL1, EZH2, TET2, IDH1/2, SRSF2, SF3B1) are of help in determining the clonal nature of the disease.…”

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confidence: 99%

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The Genetic Basis of Primary Myelofibrosis and Its Clinical Relevance

Rumi

Trotti

Vanni

et al. 2020

IJMS

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Among classical BCR-ABL-negative myeloproliferative neoplasms (MPN), primary myelofibrosis (PMF) is the most aggressive subtype from a clinical standpoint, posing a great challenge to clinicians. Whilst the biological consequences of the three MPN driver gene mutations (JAK2, CALR, and MPL) have been well described, recent data has shed light on the complex and dynamic structure of PMF, that involves competing disease subclones, sequentially acquired genomic events, mostly in genes that are recurrently mutated in several myeloid neoplasms and in clonal hematopoiesis, and biological interactions between clonal hematopoietic stem cells and abnormal bone marrow niches. These observations may contribute to explain the wide heterogeneity in patients’ clinical presentation and prognosis, and support the recent effort to include molecular information in prognostic scoring systems used for therapeutic decision-making, leading to promising clinical translation. In this review, we aim to address the topic of PMF molecular genetics, focusing on four questions: (1) what is the role of mutations on disease pathogenesis? (2) what is their impact on patients’ clinical phenotype? (3) how do we integrate gene mutations in the risk stratification process? (4) how do we take advantage of molecular genetics when it comes to treatment decisions?

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Section: Mutation and Disease Pathogenesismentioning

confidence: 99%

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confidence: 99%

The Genetic Basis of Primary Myelofibrosis and Its Clinical Relevance

Rumi

Trotti

Vanni

et al. 2020

IJMS

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Section: Introductionmentioning

confidence: 99%

“…[2] Furthermore, there have been reported cases of secondary autoimmune myelofibrosis, term used for myelofibrosis associated with a well-defined autoimmune disease (e.g., most commonly SLE, but also dermatomyositis, Sjögren syndrome, or autoimmune hepatitis). [3] We chose to present this case in order to highlight a rare constellation of neurologic and hematological complications of long-standing SLE and its challenges of diagnosis and management. To our knowledge, this is the first case description of a patient with neuro-psychiatric systemic lupus erythematosus (NPSLE) with extensive cerebral venous thrombosis and lytic lesions due to secondary autoimmune myelofibrosis.…”

Section: Introductionmentioning

confidence: 99%

“…The majority of the reported studies highlight that central nervous system (CNS) manifestations are present in 13% to 92% of the cases of SLE, whereas the peripheral nervous system (PNS) manifestations occur only in 8% to 56% of the patients [2] . Furthermore, there have been reported cases of secondary autoimmune myelofibrosis, term used for myelofibrosis associated with a well-defined autoimmune disease (e.g., most commonly SLE, but also dermatomyositis, Sjögren syndrome, or autoimmune hepatitis) [3] …”

Section: Introductionmentioning

confidence: 99%

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Febrile episode unmasking neuropsychiatric systemic lupus erythematosus with lytic lesions caused by secondary autoimmune myelofibrosis

et al. 2021

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Rationale: Systemic lupus erythematosus (SLE) is characterized by numerous immunological abnormalities that lead to multiorgan involvement. Central and peripheral nervous system manifestations are present in 8% to 92% of the cases of SLE. Furthermore, there have been reported cases of secondary autoimmune myelofibrosis associated with SLE. Patient concerns: We present the case of a 64-year-old female who was transferred from the Cardiology Department, where she was admitted for pericardial-pleural-peritoneal effusion after being discharged from another hospital following the resolution of a febrile episode. During hospitalization, she presented multiple oculomotor nerves palsies and weakness in the lower limbs. Serial cerebral magnetic resonance imaging (MRI) revealed extensive cerebral venous thrombosis. Nerve conduction studies showed sensory-motor axonal polyneuropathy. Thoracic MRI revealed a rare finding in patients with SLE – lytic lesions. Diagnoses: Extensive clinical, imaging, blood, and urine tests were performed. The patient exhibited pancytopenia, elevated inflammatory markers, hyperhomocysteinemia, mild hypoproteinemia, and severe proteinuria. The Hematology consultation ascertained that the peripheral blood smear and the bone marrow aspiration showed no alterations suggestive for a primary hematological disease and the thoracic vertebral-medullary MRI changes had a very low probability of representing osteolytic lesions in the context of plasma cells dyscrasia, but could not exclude their being result of a secondary autoimmune myelofibrosis. Immunology blood tests highlighted the presence of antinuclear antibodies and lupus anticoagulants. In this context, the Rheumatology consultation established the diagnosis of SLE with multiple complications. Interventions: The patient received treatment with cyclophosphamide. Outcomes: The ocular motricity problems and the paraparesis showed improvement. However, 1 week later, the patient developed weakness, dyspnea, and right lower quadrant abdominal pain. The abdominal-pelvic computed tomography scan indicated an acute right retroperitoneal hematoma with active bleeding for which she underwent arterial embolization of the spinal lumbar arteries with optimal result, but she died a few days later. Lessons: We chose to present this case in order to highlight the importance of interdisciplinarity in diagnosing and managing patients with SLE and multiorgan ailments, especially when faced with rare constellations of complications such as extensive cerebral venous thrombosis and osseous lytic lesions caused by secondary autoimmune myelofibrosis.

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Primary autoimmune myelofibrosis: Twenty years in making

Vaid

Aggarwal

Hariharan

et al. 2022

Pediatric Blood & Cancer

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We present a case of long-term follow up of primary autoimmune myelofibrosis (AIMF) that started in childhood. A 3-year-old female child developed fatigue and epistaxis for 8 months. There was no history of any other bleeding manifestation, jaundice, pain abdomen, B symptoms or swellings. She had received five packed red blood cells and four random donor platelets transfusions over the 8-month period.There was no history of consanguinity in the family. On examination, pallor was present and petechiae were noted over the legs. There was no lymphadenopathy, icterus, clubbing, edema, dysmorphic features or organomegaly.

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Clinical spectrum and therapeutic management of auto-immune myelofibrosis: a nation-wide study of 30 cases

Cited by 12 publications

References 9 publications

The Genetic Basis of Primary Myelofibrosis and Its Clinical Relevance

The Genetic Basis of Primary Myelofibrosis and Its Clinical Relevance

Febrile episode unmasking neuropsychiatric systemic lupus erythematosus with lytic lesions caused by secondary autoimmune myelofibrosis

Primary autoimmune myelofibrosis: Twenty years in making

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