Overview

NCI Definition: Primary myelofibrosis characterized by reticulin or collagen fibrosis in the bone marrow. The bone marrow is usually normocellular or hypocellular. Myeloblasts account for less than 10% of the bone marrow cells. Atypical megakaryocytes are present. [1]

Overt primary myelofibrosiss most frequently harbor alterations in JAK2, ASXL1, TET2, CALR, and U2AF1 [2].

Most Commonly Altered Genes in Overt Primary Myelofibrosis

JAK2 V617F, JAK2 Mutation, JAK2 Exon 14 Mutation, ASXL1fs, and CALR Mutation are the most common alterations in overt primary myelofibrosis [2].

Top Alterations in Overt Primary Myelofibrosis

Significant Genes in Overt Primary Myelofibrosis

AFF1 +

ELL +

KMT2A +

MECOM +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

NRIP3 +

RPN1 +

Disease Details

Synonyms
Primary Myelofibrosis, Fibrotic Stage, Chronic Idiopathic Myelofibrosis, Fibrotic Stage, Primary Myelofibrosis, Overt Fibrotic Stage
Parent(s)
Primary Myelofibrosis
OncoTree Name
Primary Myelofibrosis,Overt Fibrotic Stage
OncoTree Code
PMFOFS

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.