Publications by authors named "Claire Rochette"
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome characterized by a high risk of developing benign and malignant tumors, including central nervous system hemangioblastomas (CNS HBs). For an early diagnosis of VHL, before the occurrence of cancers (especially renal cell carcinoma), it is of huge importance to initiate VHL genetic testing in at-risk patients. The aim of the study was to assess the psychological impact of VHL genetic testing in patients previously diagnosed with a CNS HB.
View Article and Find Full Text PDFPurpose: Combining surgery and medical treatments allows the control of growth hormone hypersecretion in 80% of cases. Our objective was to determine the rate of acromegaly comorbidities once hypersecretion of growth hormone is controlled.
Methods: Our retrospective monocentric study was based on 130 patients followed on a regular basis, with acromegaly controlled by medical treatments or cured by surgery or radiation technique.
Article Synopsis
- Over the past 5 years, new factors related to the development of combined pituitary hormone deficiency (CPHD) have been discovered, including specific glycoproteins, GPCRs, transcription factors, and signaling molecules.
- New genetic inheritance patterns have been identified for these transcription factor mutations, suggesting a broader range of influences on CPHD than previously understood.
- The findings indicate that previously identified genetic factors may contribute to a variety of conditions beyond their known specific phenotypes, highlighting the complexity of diagnosing and understanding these diseases.
Central nervous system hemangioblastomas (CNS-HBs) occur sporadically or as a component of von Hippel-Lindau-VHL syndrome. CNS-HBs share some molecular similarities with pheochromocytomas/paragangliomas (PPGLs) and renal cell carcinomas (RCCs). Recently, hypoxia-inducible factors, particularly somatic HIF2A mutations, have been found to play an important role in the pathogenesis of PPGLs.
View Article and Find Full Text PDFLHX4 is a LIM homeodomain transcription factor involved in the early steps of pituitary ontogenesis. To date, 8 heterozygous LHX4 mutations have been reported as responsible of combined pituitary hormone deficiency (CPHD) in Humans. We identified 4 new LHX4 heterozygous allelic variants in patients with congenital hypopituitarism: W204X, delK242, N271S and Q346R.
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