Machine learning for classification of hypertension subtypes using multi-omics: A multi-centre, retrospective, data-driven study.

Background: Arterial hypertension is a major cardiovascular risk factor. Identification of secondary hypertension in its various forms is key to preventing and targeting treatment of cardiovascular complications. Simplified diagnostic tests are urgently required to distinguish primary and secondary hypertension to address the current underdiagnosis of the latter.

Expression of LHCGR in Pheochromocytomas Unveils an Endocrine Mechanism Connecting Pregnancy and Epinephrine Overproduction.

Background: The mechanisms by which pregnancy may unmask pheochromocytomas and paragangliomas are not totally understood. We hypothesized that gestational hormones may participate in the pathophysiology of catecholamine excess during pregnancy. We report a case of silent pheochromocytoma revealed in a pregnant woman by life-threatening adrenergic myocarditis.

Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma.

Context: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors in which altered central metabolism appears to be a major driver of tumorigenesis, and many PPGL genes encode proteins involved in the tricarboxylic acid (TCA) cycle.

Objective/design: While about 40% of PPGL cases carry a variant in a known gene, many cases remain unexplained. In patients with unexplained PPGL showing clear evidence of a familial burden or multiple tumors, we aimed to identify causative factors using genetic analysis of patient DNA and functional analyses of identified DNA variants in patient tumor material and engineered cell lines.

A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

Background: More than 40% of patients with paragangliomas (PGLs) harbor a germline mutation of the known PGL susceptibility genes, mainly in the SDHB or SDHD genes.

Objective: The objective of the study was to characterize the genetic background of the French Canadian (FC) patients with PGLs and provide new clinical and paraclinical insights on SDHC-related PGLs.

Methods: Genetic testing has been offered to FC patients affected with PGLs followed up at the adrenal genetics clinic at Centre hospitalier de l'Université de Montréal.

The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.

Context: The microphthalmia-associated transcription factor (MITF) regulates the survival, proliferation, and differentiation of neural crest-derived lineages. Recent studies reported an increased risk of melanoma in individuals carrying the rare variant MITF, p.E318K (rs149617956).

SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.

Context: Pheochromocytomas (PCC) and paragangliomas (PGL) may be caused by a germline mutation in 12 different predisposing genes. We previously reported that immunohistochemistry is a useful approach to detect patients harboring SDHx mutations. SDHA immunostaining is negative in SDHA-mutated tumors only, while SDHB immunostaining is negative in samples mutated on all SDHx genes.

Peritoneal implantation of pheochromocytoma following tumor capsule rupture during surgery.

Context: Patients with pheochromocytoma (PH) or paraganglioma (PGL) may suffer from tumor persistence or recurrence after resection of the primary tumor. Malignancy and genetic determinants account for the vast majority of these cases, but tumor recurrence or persistence may also arise from tumor spillage during primary resection, followed by peritoneal implantation. We report here five such cases.

Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.

Context: HIF2A germline mutations were known to cause congenital polycythemia. Recently, HIF2A somatic mutations were found in several patients with polycythemia and paraganglioma, pheochromocytoma, or somatostatinoma, suggesting the occurrence of a de novo postzygotic HIF2A mutation that has not been demonstrated clearly.

Patients: Patient 1 is a woman suffering from polycythemia diagnosed at the age of 16 years.

A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.

Objective: In this report, we describe a new patient with unexplained familial bilateral pheochromocytoma. Following the recent description of TMEM127 as a new pheochromocytoma susceptibility gene, the aim of this study was to test the hypothesis of a causative TMEM127 gene mutation in this patient.

Design: Pheochromocytoma susceptibility genes were analyzed in germline DNA and losses of heterozygosity (LOH) assessed by BAC array comparative genomic hybridization in tumor DNA.