Publications by authors named "E Pasmant"
Purpose: Primary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of Cushing's syndrome due to bilateral nodules, is a heterogeneous disease at the clinical, hormonal and morphological levels. ARMC5 inactivating pathogenic variants are causative of PBMAH and rare variants of PDE11A have been associated with PBMAH.
Methods: Leukocyte DNA of 354 PBMAH index cases was sequenced for ARMC5 and PDE11A genes by Next generation sequencing (NGS).
Article Synopsis
- * Out of 207 fetuses, 41% were diagnosed with the NF1 variant, leading to 135 pregnancies carried to term, including 16 affected children, while 69 pregnancies were terminated due to NF1.
- * Our findings highlight the complexities of PND, especially in cases of mosaic NF1, where indirect testing can lead to unexpected results, emphasizing the need for careful medical and genetic counseling.
Bilateral macronodular adrenocortical disease (BMAD) is an uncommon cause of Cushing's syndrome leading to bilateral macronodules. Isolated BMAD has been classified into three molecular groups: patients with ARMC5 alteration, KDM1A alteration, and patients without known genetic cause. The aim of this study was to identify by NGS, in a cohort of 26 patients with BMAD, the somatic alterations acquired in different nodules after macrodissection from patients with germline ARMC5 or KDM1A alterations and to analyze potential somatic alterations in a panel of five other genes involved in adrenal pathology (GNAS, PDE8B, PDE11A, PRKAR1A, and PRKACA).
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- ACTH-independent Cushing syndrome (CS) is a rare condition in children, often linked to primary pigmented nodular adrenocortical disease (PPNAD), which is commonly associated with Carney complex (CNC), a genetic syndrome caused by mutations in the PRKAR1A gene.
- A 10-year-old boy presented with severe obesity and poor growth response despite dietary measures, which escalated over 10 months, leading to additional symptoms including hypertension and skin changes.
- After thorough testing, including imaging and genetic analysis, it was determined that he had ACTH-independent hypercortisolism due to bilateral micronodular adrenal hyperplasia, confirmed by a pathogenic variant in the PRKAR1A
Article Synopsis
- The study examines the effectiveness and safety of immune checkpoint inhibitors in patients with Li-Fraumeni syndrome, a condition that increases cancer risk.
- Researchers conducted a series of cases to assess patient responses to this type of cancer treatment, gathering data on outcomes and side effects.
- Findings suggest that immune checkpoint blockade may offer potential benefits in treating cancers in individuals with Li-Fraumeni syndrome, but further research is needed to confirm these results.