Melanoma in infants, caused by a gene fusion involving the anaplastic lymphoma kinase (ALK).

Autor:	Perkins IU; Department of Pathology, University of Colorado School of Medicine, Denver, Colorado, USA., Tan SY; Department of Pathology, Stanford University School of Medicine, Stanford, California, USA., McCalmont TH; Department of Dermatology, University of California, San Francisco, California, USA.; Department of Pathology, University of California, San Francisco, California, USA.; GS Dermatology Associates, Walnut Creek, California, USA., Chou PM; Department of Pathology, Ann and Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Mully TW; Department of Dermatology, University of California, San Francisco, California, USA.; Department of Pathology, University of California, San Francisco, California, USA., Gerami P; Department of Pathology, Ann and Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Pomerantz JH; Division of Plastic and Reconstructive Surgery, Department of Surgery, University of California, San Francisco, California, USA.; Department of Orofacial Sciences, Program in Craniofacial Biology, Eli and Edythe Broad Center of Regeneration Medicine, University of California, San Francisco, California, USA., Reyes-Múgica M; Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Balkin DM; Department of Plastic & Oral Surgery, Boston's Children's Hospital, Boston, Massachusetts, USA.; Department of Surgery, Harvard Medical School, Boston, Massachusetts, USA., Kruse LL; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Huang B; Department of Pediatrics, University of California, San Francisco, California, USA., Reichek JL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Gangopadhyay N; Division of Plastic Surgery, Department of Surgery, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Chiosea S; Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Green JR; Envision Radiology Associates of Hollywood, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Chamlin SL; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Frieden IJ; Department of Dermatology, University of California, San Francisco, California, USA.; Department of Pediatrics, University of California, San Francisco, California, USA., Bastian BC; Department of Dermatology, University of California, San Francisco, California, USA.; Department of Pathology, University of California, San Francisco, California, USA., Yeh I; Department of Dermatology, University of California, San Francisco, California, USA.; Department of Pathology, University of California, San Francisco, California, USA.
Jazyk:	angličtina
Zdroj:	Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2024 Jan; Vol. 37 (1), pp. 6-14. Date of Electronic Publication: 2023 Jul 20.
DOI:	10.1111/pcmr.13115
Abstrakt:	We describe the first cases of pediatric melanoma with ALK fusion gene arising within giant congenital melanocytic nevi. Two newborn boys presented with large pigmented nodular plaques and numerous smaller satellite nevi. Additional expansile nodules developed within both nevi and invasive melanomas were diagnosed before 10 months of age in both boys. Oncogenic driver mutations in NRAS and BRAF were absent in both cases. Instead, oncogenic ZEB2::ALK fusion genes were identified in both the nevus and melanoma developing within the nevus. In both cases, tumors were noted by ultrasound in utero, demonstrated significant nodularity at birth, and progressed to melanoma in the first year of life suggesting that congenital nevi with ALK fusion genes may behave more aggressively than those with other mutations. As ALK kinase inhibitors are effective against a range of tumors with similar ALK fusion kinases, identifying ALK fusion genes in congenital melanocytic nevi may provide an opportunity for targeted therapy. (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu Plný text