title: Spitzoid melanoma in a child with Li-Fraumeni syndrome.
abstract: Spitzoid melanoma of childhood is a rare malignancy. The histological features are at the upper end of a range encompassing Spitz nevus and atypical Spitz tumor, the unifying features including large oval, fusiform or polygonal melanocytes with abundant homogeneous-appearing cytoplasma and large vesicular nuclei. The presence of a "bottom-heavy" pattern, strikingly enlarged nuclei and nucleoli in both the upper and lower portions of the lesion, and deep mitotic figures are among the findings that distinguish most of the Spitzoid melanomas from Spitz nevi and atypical Spitz tumors. There are no syndromic associations reported for this malignancy. We report the occurrence of choroid plexus carcinoma, Spitzoid melanoma, and myelodysplasia in a child who was found to carry a germline mutation for TP53. While choroid plexus carcinoma and myelodysplasia have relatively frequently been described, melanomas have been very rarely described in Li-Fraumeni syndrome. The association of Spitzoid melanoma with Li-Fraumeni syndrome, especially in a pediatric patient, has not been reported before.
authors.affiliation: 1  School Of Medicine, University of Missouri Kansas City, 2411 Holmes Street, Kansas City, MO 64108, USA.
authors.forename: Ramya
authors.initials: R
authors.lastname: Kollipara
authors.forename: Linda D
authors.initials: LD
authors.lastname: Cooley
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Horii
authors.forename: Maxine L
authors.initials: ML
authors.lastname: Hetherington
authors.forename: Philip E
authors.initials: PE
authors.lastname: Leboit
authors.forename: Vivekanand
authors.initials: V
authors.lastname: Singh
authors.forename: David L
authors.initials: DL
authors.lastname: Zwick
mesh_terms: D002277:Carcinoma / Q000150:complications* / Q000235:genetics; D016545:Choroid Plexus Neoplasms / Q000150:complications* / Q000235:genetics; D016158:Genes, p53; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D059785:Karyotype; D016864:Li-Fraumeni Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D008545:Melanoma / Q000209:etiology* / Q000473:pathology; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000209:etiology* / Q000473:pathology