The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

OBJECTIVE: To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. METHODS: We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their "clinical actionability" based on established criteria. RESULTS: Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p < 0.001). Nineteen out of the 28 management recommendations are "evidence-based" on either practice guidelines endorsed by a professional society (n = 9, Level 1) or peer-reviewed publications making medical management recommendation (n = 10, Level 2). CMA results impact medical management by precipitating referral to a specialist (n = 24); diagnostic testing (n = 25), surveillance of complications (n = 19), interventional procedure (n = 7), medication (n = 15) or lifestyle modification (n = 12). CONCLUSION: The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of ∼ 11% for pathogenic/likely pathogenic results. Importantly the yield for clinically actionable results is 8.6%. We advocate using diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. Furthermore, it incorporates evidence-based medicine into the practice of genomic medicine. The same framework can be applied to other genomic testing strategies enabled by next-generation sequencing

Caso para diagnóstico Case for diagnosis

Relata-se caso de erythema gyratum repens em paciente do sexo masculino, de 40 anos, com eritema disseminado, pruriginoso, bizarro, figurado, com fina descamação nas bordas. Na primeira consulta, os exames laboratoriais e a radiografia do tórax foram normais. Durante acompanhamento clínico foi diagnosticado câncer de pulmão por tomografia computadorizada de tórax, tendo a imuno-histoquímica da biópsia da linfonodomegalia inguinal confirmado o pulmão como sítio primário.<br>A case of erythema gyratum repens is described in a 40-year-old man with a generalized, bizarre, figurated and pruritic erythema with fine scaling borders. Laboratorial exams and radiography of the thorax were normal in the first visit. A tomographic study of the thorax showed a lobulated pulmonary nodule and the immunohistochemistry on the biopsy of an inguinal lymph node confirmed the lung cancer as the primary site of the neoplasia