RESUMO
BACKGROUND: In Norway, approximately 360 000 cervical screening samples were taken in 2020, of which 11 000 were registered as inadequate. We therefore wished to investigate doctors' knowledge of cervical sample-taking in the primary health service. MATERIAL AND METHOD: An anonymous survey on cervical sample-taking was sent by email to around 4 700 members of the Norwegian College of General Practice in September 2021. RESULTS: Of the 1 039 doctors who responded to the survey, 820 (79 %) reported that they always indicate the reason for taking the sample in the requisition form, and 898 (86 %) reported that they avoid taking a sample during menstruation. Only one in three doctors (343) correctly indicated the location of the squamocolumnar junction in postmenopausal women. In response to a question aimed at users of the ThinPrep method, which is particularly sensitive to sampling errors, 426 out of 697 (61 %) answered that they either avoid using a lubricant or use a water-based lubricant, while only 35 % of the doctors responded that they stop taking the sample if bleeding occurs. INTERPRETATION: The results show that although many doctors have satisfactory knowledge, a continuous focus on cervical sample-taking is essential. Correct sampling and knowledge of anatomical factors in postmenopausal women may be significant for reducing the number of inadequate samples.
Assuntos
Medicina Geral , Médicos de Atenção Primária , Manejo de Espécimes , Neoplasias do Colo do Útero , Feminino , Humanos , Detecção Precoce de Câncer , Lubrificantes , Atenção Primária à Saúde , Manejo de Espécimes/métodos , Manejo de Espécimes/normas , Conhecimentos, Atitudes e Prática em Saúde , NoruegaAssuntos
Subunidades alfa de Proteínas de Ligação ao GTP/genética , Melanoma/genética , Proteínas Proto-Oncogênicas c-kit/genética , Neoplasias Cutâneas/genética , População Negra , Análise Mutacional de DNA , Feminino , Pé/patologia , GTP Fosfo-Hidrolases/genética , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP , Mãos/patologia , Humanos , Masculino , Melanoma/etnologia , Proteínas de Membrana/genética , Reação em Cadeia da Polimerase Multiplex , Mutação , Neoplasias Cutâneas/etnologia , População BrancaRESUMO
BACKGROUND: CDKN2A and CDK4 are high risk susceptibility genes for cutaneous malignant melanoma. Melanoma families with CDKN2A germline mutations have been extensively characterised, whereas CDK4 families are rare and lack a systematic investigation of their phenotype. METHODS: All known families with CDK4 germline mutations (n=17) were recruited for the study by contacting the authors of published papers or by requests via the Melanoma Genetics Consortium (GenoMEL). Phenotypic data related to primary melanoma and pigmentation characteristics were collected. The CDK4 exon 2 and the complete coding region of the MC1R gene were sequenced. RESULTS: Eleven families carried the CDK4 R24H mutation whereas six families had the R24C mutation. The total number of subjects with verified melanoma was 103, with a median age at first melanoma diagnosis of 39 years. Forty-three (41.7%) subjects had developed multiple primary melanomas (MPM). A CDK4 mutation was found in 89 (including 62 melanoma cases) of 209 tested subjects. CDK4 positive family members (both melanoma cases and unaffected subjects) were more likely to have clinically atypical nevi than CDK4 negative family members (p<0.001). MPM subjects had a higher frequency of MC1R red hair colour variants compared with subjects with one tumour (p=0.010). CONCLUSION: Our study shows that families with CDK4 germline mutations cannot be distinguished phenotypically from CDKN2A melanoma families, which are characterised by early onset of disease, increased occurrence of clinically atypical nevi, and development of MPM. In a clinical setting, the CDK4 gene should therefore always be examined when a melanoma family tests negative for CDKN2A mutation.
