Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Myelofibrosis

Myelofibrosis is a bone marrow disorder that results in accelerated fibrosis and the replacement of the bone marrow by fibrotic tissue like a scar. The disease may be caused by somatic mutations o the JAK2 gene.

Systematic

Hereditary malign blood disorders
Acute myeloid leukemia
Juvenile myelomonocytic leukemia
Myelodysplastic syndrome
Myelofibrosis
JAK2
Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
Polycythemia vera
Somatic erythrocytosis
Susceptibility to acute myeloid leukemia
Susceptibility to myelodysplastic syndrome

References:

1.

Baxter EJ et al. () Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.

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2.

Kralovics R et al. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders.

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3.

Méndez-Ferrer S et al. (2008) Haematopoietic stem cell release is regulated by circadian oscillations.

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4.

Méndez-Ferrer S et al. (2010) Mesenchymal and haematopoietic stem cells form a unique bone marrow niche.

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5.

Arranz L et al. (2014) Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms.

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6.

Delhommeau F et al. (2009) Mutation in TET2 in myeloid cancers.

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7.

Sieff CA et al. (1980) Familial myelofibrosis.

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8.

Bonduel M et al. (1998) Familial idiopathic myelofibrosis and multiple hemangiomas.

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9.

Pikman Y et al. (2006) MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.

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10.

Pardanani AD et al. (2006) MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.

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11.

Kaufmann KB et al. (2012) A novel murine model of myeloproliferative disorders generated by overexpression of the transcription factor NF-E2.

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12.

Jutzi JS et al. (2013) MPN patients harbor recurrent truncating mutations in transcription factor NF-E2.

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13.

Cazzola M et al. (2014) JAK inhibitor in CALR-mutant myelofibrosis.

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14.

Passamonti F et al. (2014) JAK inhibitor in CALR-mutant myelofibrosis.

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15.

Cassinat B et al. (2014) Interferon alfa therapy in CALR-mutated essential thrombocythemia.

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16.

Orphanet article

Orphanet ID 824 [^]
17.

OMIM.ORG article

Omim 254450 [^]
18.

Wikipedia article

Wikipedia EN (Myelofibrosis) [^]
Update: April 29, 2019