RESUMO
Background Lynch syndrome (LS) is an autosomal dominant condition due to the germline mutation in the mismatch repair (MMR) genes including MLH1 , MSH2 , MSH6, and PMS2 (post-meiotic segregation increased 2). The MMR mutation carriers have high risk for cancers. Pathogenic PMS2 variants are rarely reported in LS-associated colorectal cancer (CRC) with colorectal polyps. The aim of the study was to investigate the genetic etiology of CRC in an individual with CRC with multiple colorectal polyps and a family history of cancers. Patients and Methods The index patient was an African male affected by CRC with multiple colorectal polyps. The clinical diagnostic for LS was based on the Amsterdam II criteria and pedigree. Next-generation sequencing with inherited cancer genes panel was used to detect the pathogenic variant. Results The patient fulfilled the Amsterdam II criteria and the pedigree revealed a family history of recurrent CRC. A deleterious PMS2 germline heterozygous mutation c.2192_2196delTAACT was detected. Conclusion Our study supports the notion that LS may be associated with polyps and shows the predisposition of PMS2 heterozygous mutation in LS-associated CRC at young age.
RESUMO
BACKGROUND: We aimed to investigate the prevalence of Lynch syndrome as one of hereditary causes of colorectal cancer (CRC) among young Congolese individuals affected by the CRC, and to define methods for diagnosis in Congo Brazzaville. METHODS: We conducted a transversal cohort study of 34 patients having a CRC with a family history for a period of eight years. They were selected among 89 CRCs of any type from the Bethesda guidelines criteria combined with pedigrees. Mismatch repair (MMR) genes alterations were researched by immunohistochemistry (IHC). RESULTS: We identified with the Bethesda criteria a total of 38.2% (34/89) patients having familial CRC with a confidence interval (CI) of 95%=[0.34-0.41]. Only 14.7% (5/34) 95% CI=[0.34-2.32] patients showed MMR immunodeficiency involving firstly MLH1 protein then MSH2 protein. These data account for 5.6% (5/89) 95% CI=[0.15-0.33] of patients affected by Lynch syndrome with an earlier median age of 35 years (range 20 to 47 years). CONCLUSION: The prevalence of Lynch syndrome found in Brazzaville is comparable to that is found in northern countries. The combined Bethesda guidelines, pedigree and IHC is an accessible and good alternative method for the positive diagnosis of Lynch syndrome in current practice in Congo.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Adulto , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Intervalos de Confiança , Congo/epidemiologia , Estudos Transversais , Reparo de Erro de Pareamento de DNA/genética , Proteínas de Ligação a DNA/genética , Molécula de Adesão da Célula Epitelial/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , Proteína 1 Homóloga a MutL/genética , Proteína 2 Homóloga a MutS/genética , Linhagem , Prevalência , Fatores de Risco , Fatores de TempoRESUMO
The objective of this study has been to estimate the frequency of AIDS occurring in older age groups on the basis of hospital statistics and note the prognostic particularities in these groups. One hundred and seventy five (175) cases of AIDS reported to the University Hospital Center of Brazzaville occurring in persons aged 55 years and over were followed up retrospectively from 1 January 1990 to 31 December 1996. The results of this study indicate that AIDS is not rare in older age groups: 4.7% of all infected subjects registered during the period of study. The sex-ratio was 1.3/1 (99 males and 76 females). The overall mean age was 60.45. Contamination seems to be the most often of heterosexual origin. Many symptoms were found. The most frequent ones were weight loss (100% cases), fever (89.7%), diarrhoea (60.5%), neuro-psychiatric disorders (49.7%), and respiratory manifestations (50.2%). Lethal evolution was rapid, with 74% deaths at the end of the 1st year and 100% at the end of 2nd year, as a consequence of delayed diagnosis as well as the natural development of the disease. The results of this study point to the necessity of prevention strategies which include not only young, but older age groups as well.