Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?
J Pediatr Hematol Oncol
; 36(3): e193-6, 2014 Apr.
Article
em En
| MEDLINE
| ID: mdl-24276038
ABSTRACT
A male infant with dysmorphic features, intestinal malrotation, and developmental delay was found to have a germline translocation resulting in partial trisomy 2p and monosomy 16p. At 3 and 9 months of age, he developed localized neuroblastoma in each adrenal, which was managed with surgical resection. Tumors were MYCN non-amplified, with 2p copy gain consistent with the germline translocation. The potential increased risk of neuroblastoma associated with partial trisomy 2p is discussed in the context of this and previously published cases, and may be due to increased constitutional expression of MYCN and ALK genes, both located within the duplicated 2p region.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
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Trissomia
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Segunda Neoplasia Primária
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Receptores Proteína Tirosina Quinases
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Neoplasias das Glândulas Suprarrenais
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Mutação em Linhagem Germinativa
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Neuroblastoma
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article