The fetopathological examination allowed to extend the phenotype to central nervous system and the genetic study highlights ASXL3 as a dominant gene responsible for PCH1 phenotype. Recognizing heterozygous ASXL3 mutation as a cause of prenatal PCH1 is essential for both large scale molecular analysis in the NGS era and genetic counseling.
Basal cell carcinoma (BCC) is the most frequent skin cancer but <1% of the cases develop in the vulva. Histoprognostic features of vulvar BCCs are not recognized and, consequently, the treatment of the disease is not well codified. To overcome this lack of knowledge, we have performed a retrospective analysis of vulvar BBCs to assess the value of various histological features regarding the disease outcome. In all, 19 patients surgically treated for a vulvar BCC in the Centre Hospitalier Intercommunal de Créteil from March 1, 2000 to September 26, 2019 were retrieved. Clinical and histologic features were reviewed in all cases and analyzed in comparison with disease recurrence and patient's survival. The median age of the patients was 74 (range 54-99) yr. Tumor location on the labium majus was the most frequent (68%). None presented with a medical condition related to BCC. All the patients were treated by surgery alone, except one who benefited from additional radiotherapy. We found a significant association between tumor size and recurrences (P = 0.031). Other features associated with disease outcome were tumor thickness, treatment type, and surgical margins. Recurrence was observed for tumors larger than 20 mm with a surgical margin of less than 3 mm. A combination of tumor size, thickness, and surgical margin are histoprognostic factors more significant than tumor subtype.
Corpus callosum defects are frequent congenital cerebral disorders caused by mutations in more than 300 genes. These include genes implicated in corpus callosum development or function, as well as genes essential for mitochondrial physiology. However, in utero corpus callosum anomalies rarely raise a suspicion of mitochondrial disease and are characterized by a very large clinical heterogeneity.
Here, we report a detailed pathological and neuro-histopathological investigation of 9 fetuses from 4 unrelated families with prenatal onset of corpus callosum anomalies, sometimes associated with other cerebral or extra-cerebral defects. Next generation sequencing allowed the identification of novel pathogenic variants in 3 different nuclear genes previously reported in mitochondrial diseases: TIMMDC1, encoding a complex I assembly factor never involved before in corpus callosum defect; MRPS22, a protein of the small mitoribosomal subunit, and EARS2, the mitochondrial tRNA-glutamyl synthetase. The present report describes the antenatal histopathological findings in mitochondrial diseases and expands the genetic spectrum of antenatal corpus callosum anomalies establishing OXPHOS function as an important factor for corpus callosum biogenesis. We propose that, when observed, antenatal corpus callosum anomalies should raise suspicion of mitochondrial disease and prenatal genetic counseling should be considered.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.