Hirschsprung Disease Gene May Also Be Involved in Some Melanomas

A new study has found that mutations in a gene involved in Hirschsprung disease--a rare disease of the colon that usually occurs in children--may also predispose carriers to malignant melanoma.

Because the endothelin signaling pathway plays an important role in the differentiation and migration of melanocytes, the cells from which melanomas arise, Nadem Soufir, M.D., Ph.D., of the Hopital Bichat-Claude Bernard in Paris, and colleagues investigated whether mutations in the gene endothelin receptor B (EDNRB), which is involved in Hirschsprung disease, could also predispose individuals to malignant melanoma. They sequenced the gene in 137 patients with malignant melanoma and 130 matched control subjects.

EDNRB mutations were identified in four control subjects and in 15 patients, 14 of whom carried mutations reported in Hirschsprung disease and/or resulted in loss of gene function. The authors found a direct association between melanoma risk and the presence of EDNRB mutations. They conclude that their data strongly suggest that EDNRB is involved in the predisposition of two different multigenic disorders, Hirschsprung disease and melanoma.

Contact: Nadem Soufir, Hopital Bichat-Claude Bernard, nadem.soufir@bch.ap-hop-paris.fr

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