Loss of heterozygosity at the RET protooncogene locus in a case of multiple endocrine neoplasia type 2A.
J Clin Endocrinol Metab
; 86(1): 239-44, 2001 Jan.
Article
en En
| MEDLINE
| ID: mdl-11232007
ABSTRACT
We describe a patient affected by multiple endocrine neoplasia type 2A (MEN 2A) bearing a heterozygous germline mutation (Cys(634)Arg) in exon 11 and an additional somatic mutation of the RET protooncogene. A large intragenic deletion, spanning exon 4 to exon 16, affected the normal allele and was detected by quantitative PCR, Southern blot analysis, and screening of several polymorphic markers. This deletion causes RET loss of heterozygosity exclusively in the metastasis, thus suggesting a role for this second mutational event in tumor progression. No additional mutations were found in the other exons analyzed. We provide the first evidence that RET, a dominant oncogene, is affected by a germline mutation and by an additional somatic deletion of the wild-type allele. This unusual genetic profile may be related to the clinical course and very poor outcome.
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Bases de datos:
MEDLINE
Asunto principal:
Mapeo Cromosómico
/
Proteínas Proto-Oncogénicas
/
Proteínas Tirosina Quinasas Receptoras
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Neoplasia Endocrina Múltiple Tipo 2a
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Pérdida de Heterocigocidad
/
Proteínas de Drosophila
Límite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
J Clin Endocrinol Metab
Año:
2001
Tipo del documento:
Article
País de afiliación:
Italia