TY - JOUR
T1 - Spitzoid melanoma in a child with Li-Fraumeni syndrome
AU - Kollipara, Ramya
AU - Cooley, Linda D.
AU - Horii, Kimberly A.
AU - Hetherington, Maxine L.
AU - Leboit, Philip E.
AU - Singh, Vivekanand
AU - Zwick, David L.
PY - 2014
Y1 - 2014
N2 - 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 myelodys-plasia 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.
AB - 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 myelodys-plasia 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.
KW - Choroid plexus carcinoma
KW - Li-Fraumeni syndrome
KW - Myelodysplasia
KW - Spitzoid melanoma
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UR - http://www.scopus.com/inward/citedby.url?scp=84895474279&partnerID=8YFLogxK
U2 - 10.2350/13-09-1380-CR.1
DO - 10.2350/13-09-1380-CR.1
M3 - Article
C2 - 24251760
AN - SCOPUS:84895474279
SN - 1093-5266
VL - 17
SP - 64
EP - 69
JO - Pediatric and Developmental Pathology
JF - Pediatric and Developmental Pathology
IS - 1
ER -