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
Midline Carcinoma of Children and Young Adults with NUT Rearrangement, Carcinoma with t(15;19)(q13;p13.1) Translocation, NUT Midline Carcinoma
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.