Overview

NCI Definition: Myelofibrosis that develops in a patient with history of essential thrombocythemia. [1]

Myelofibrosis transformation in essential thrombocythemias most frequently harbor alterations in CALR, JAK2, ASXL1, TET2, and DNMT3A [2].

Most Commonly Altered Genes in Myelofibrosis Transformation in Essential Thrombocythemia

CALR Mutation, JAK2 V617F, JAK2 Mutation, JAK2 Exon 14 Mutation, and CALR L367fs are the most common alterations in myelofibrosis transformation in essential thrombocythemia [2].

Top Alterations in Myelofibrosis Transformation in Essential Thrombocythemia

Significant Genes in Myelofibrosis Transformation in Essential Thrombocythemia

AFF1 +

ELL +

IDH1 +

IDH2 +

JAK2 +

KMT2A +

MECOM +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

NRIP3 +

RPN1 +

Disease Details

Synonyms
Post- Essential Thrombocythemia Myelofibrosis
Parent(s)
Secondary Myelofibrosis
OncoTree Name
Essential Thrombocythemia Myelofibrosis
OncoTree Code
ETMF

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.