Overview

NCI Definition: A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene. [1]

NUT carcinomas most frequently harbor alterations in NUTM1, EP300, BRD4, TMPRSS2, and RFWD2 [2].

Most Commonly Altered Genes in NUT Carcinoma

NUTM1 Fusion, NUTM1-BRD4 Fusion, BRD4-NUTM1 Fusion, BRD4 Fusion, and TMPRSS2-KLF4 Fusion are the most common alterations in NUT carcinoma [2].

Top Alterations in NUT Carcinoma

Significant Genes in NUT Carcinoma

NUTM1 +

Disease Details

Synonyms
NUT Midline Carcinoma, Midline Carcinoma of Children and Young Adults with NUT Rearrangement, Carcinoma with t(15;19)(q13;p13.1) Translocation
Parent(s)
Undifferentiated Carcinoma
Children
NUT Carcinoma of the Lung and NUT Midline Carcinoma of the Head and Neck

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.