Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.
Clin Genet
; 91(4): 507-519, 2017 Apr.
Article
em En
| MEDLINE
| ID: mdl-27779754
ABSTRACT
Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss-of-function mutations in one of the MMR genes. Individuals with CMMRD have high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (NF1). Evaluation of the clinical findings of genetically proven CMMRD patients shows that not only multiple café-au-lait macules but also any of the diagnostic features of NF1 may be present in a CMMRD patient. This phenotypic overlap may lead to misdiagnosis of CMMRD patients as having NF1, which impedes adequate management of the patients and their families. The spectrum of CMMRD-associated childhood malignancies includes high-grade glioma, acute myeloid leukaemia or rhabdomyosarcoma, also reported as associated with NF1. Reported associations between NF1 and these malignancies are to a large extent based on studies that neither proved the presence of an NF1 germline mutation nor ruled-out CMMRD in the affected. Hence, these associations are challenged by our current knowledge of the phenotypic overlap between NF1 and CMMRD and should be re-evaluated in future studies. Recent advances in the diagnostics of CMMRD should render it possible to definitely state or refute this diagnosis in these individuals.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Neoplásicas Hereditárias
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Neoplasias Encefálicas
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Neoplasias Colorretais
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Neurofibromatose 1
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Manchas Café com Leite
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Diagnóstico Diferencial
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
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Humans
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Áustria