Overview

NCI Definition: A chronic myeloproliferative neoplasm characterized by bone marrow fibrosis, proliferation of atypical megakaryocytes and granulocytes in the bone marrow, anemia, splenomegaly, and extramedullary hematopoiesis. (WHO, 2001) [1]

Primary myelofibrosiss most frequently harbor alterations in JAK2, ASXL1, TET2, CALR, and DNMT3A [2].

Most Commonly Altered Genes in Primary Myelofibrosis

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

Top Alterations in Primary Myelofibrosis

Significant Genes in Primary Myelofibrosis

ABL1 +

AFF1 +

ASXL1 +

BCR +

DEK +

ELL +

FLT3 +

JAK2 +

KMT2A +

MECOM +

MLF1 +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

NPM1 +

NUP214 +

RPN1 +

RUNX1 +

TP53 +

Disease Details

Synonyms
CIMF, Idiopathic Bone Marrow Fibrosis, AMM, Idiopathic Myelofibrosis, Chronic Idiopathic Myelofibrosis, Myelosclerosis with Myeloid Metaplasia, Agnogenic Myeloid Metaplasia
Parent(s)
Myeloproliferative Neoplasm
Children
Primary Myelofibrosis, Prefibrotic Stage and Overt Primary Myelofibrosis
OncoTree Name
Primary Myelofibrosis
OncoTree Code
PMF

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.