RESUMO
Biallelic mutations in any of the four mismatch repair genes MSH2, MSH6, MLH1 and PMS2 result in one of the most aggressive childhood cancer predisposition syndromes, termed constitutional mismatch repair deficiency (CMMRD) syndrome. In addition to a very high tumour risk, the CMMRD phenotype is often characterised by the presence of signs reminiscent of neurofibromatosis type 1. Although paediatric systemic lupus erythematosus (pSLE) has been reported so far in three patients with CMMRD, it has not been considered a diagnostic feature of the syndrome. We report here two additional female patients with pSLE and CMMRD due to biallelic pathogenic variants in MSH6 Hence, there are a total of five out of approximately 200 (2.5%) currently reported patients with CMMRD that also have pSLE, suggesting pSLE should raise the suspicion of a diagnosis of CMMRD, especially if supported by additional indicative features.
Assuntos
Neoplasias Encefálicas/genética , Neoplasias Colorretais/genética , Proteínas de Ligação a DNA/genética , Lúpus Eritematoso Sistêmico/genética , Síndromes Neoplásicas Hereditárias/genética , Neurofibromatose 1/genética , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/patologia , Criança , Pré-Escolar , Neoplasias Colorretais/complicações , Neoplasias Colorretais/patologia , Reparo de Erro de Pareamento de DNA/genética , Feminino , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/patologia , Mutação , Síndromes Neoplásicas Hereditárias/complicações , Síndromes Neoplásicas Hereditárias/patologia , Neurofibromatose 1/complicações , Neurofibromatose 1/patologia , Pediatria , FenótipoRESUMO
BACKGROUND: Cutaneous squamous cell carcinoma (CSCC), the second most common cancer in whites, may result in nodal metastasis in 4% of patients. In the last decade, sentinel lymph node biopsy (SLNB) became the common practice for treating patients with invasive skin cancers such as melanoma, although its use in patients with CSCC is still under debate. OBJECTIVE: To find the rate of cervical lymph node metastasis in the series of patients with CSCC of the head and neck and to identify those who may need SLNB. MATERIALS AND METHODS: A retrospective data collection on all patients diagnosed with CSCC of head and neck during the years 1998 to 2005. RESULTS: A total of 572 patients with 725 head and neck CSCC were included in the study group. During the follow-up period, 10 (1.3%) patients developed lymph node metastases and no patient developed distant metastases. The probability of lymph node metastasis within 6 years for T1 and T2 tumors was 1.09% and 5.46%, respectively (p = .0387). CONCLUSION: Because of the relatively low incidence of cervical lymph node metastases in patients with CSCC of the head and neck, SLNB for clinically N0 patients is not justified.
