Publications by authors named "E Cottereau"
Article Synopsis
- Sarcomas are not typically associated with Lynch Syndrome (LS), but recent literature suggests a connection, prompting a national study to investigate their characteristics in LS patients.
- The SarcLynch study included 81 patients, finding that 83% had soft-tissue sarcomas, particularly pleomorphic variants like undifferentiated pleomorphic sarcoma and pleomorphic rhabdomyosarcoma, with 40% having sarcoma as their first cancer event.
- Results showed a high prevalence of mismatch repair deficiency and promising responses to immune checkpoint inhibitors, suggesting the need for screening and potential immunotherapy for these sarcomas.
Background: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessively inherited syndrome that is caused by biallelic pathogenic variants of the mismatch repair genes. It is characterised by the development of multiple tumours in the first and second decade of life including brain, gastrointestinal and haematological tumours often resulting in early death. In order to improve the prognosis of these patients, the European collaborative group 'care for CMMRD' developed a surveillance programme in 2014 and established a registry of patients with CMMRD in Paris.
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- Peters' anomaly (PA) is a rare eye condition marked by issues like corneal opacity and adhesions related to the eye's anterior segment, linked to several genes such as B3GLCT and PAX6.
- Researchers studied 95 PA patients using advanced genetic techniques and found genetic defects in about one-third of them, with B3GLCT and PAX6 being the most common culprits.
- Notably, they discovered SOX2, a gene associated with microphthalmia, in some PA patients, highlighting its unexpected role in this condition and the need for further genetic exploration in PA cases.
Overgrowth syndromes are a heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as visceromegaly, macrocephaly and a large range of various symptoms. These syndromes are caused by either genetic or epigenetic anomalies affecting factors involved in cell proliferation and/or the regulation of epigenetic markers. Some of these conditions are associated with neurological anomalies, such as cognitive impairment or autism.
View Article and Find Full Text PDFName Of The Disease (synonyms): Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870.
Name Of The Analysed Genes Or Dna/chromosome Segments: GPC3.