Overview

NCI Definition: A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules. [1]

Juvenile xanthogranulomas most frequently harbor alterations in RET, NCOA4, and KMT2A [2].

Most Commonly Altered Genes in Juvenile Xanthogranuloma

RET Fusion, NCOA4-RET Fusion, KMT2A R2204W, and KMT2A Mutation are the most common alterations in juvenile xanthogranuloma [2].

Top Alterations in Juvenile Xanthogranuloma

Significant Genes in Juvenile Xanthogranuloma

ATM +

BRAF +

BRCA1 +

BRCA2 +

RAD51C +

RAD51D +

Disease Details

Synonyms
JXG
Parent(s)
Soft Tissue Neoplasm
Children
Disseminated Juvenile Xanthogranuloma

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.