Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time.

Objective: Pheochromocytomas (PHEOs) and paragangliomas (PGLs), collectively known as PPGLs, are tumours with high heritability. The prevalence of germline mutations in apparently sporadic PPGLs varies depending on the study population. The objective of this study was to determine the spectrum of germline mutations in a cohort of patients with apparently sporadic PPGLs over time.

Isolated Pheochromocytoma in a 73-Year-Old Man With No Clinical Manifestations of Type 1 Neurofibromatosis Carrying an Unsuspected Deletion of the Entire Gene.

Pheochromocytomas (PHEOs) are a rare cause of endocrine hypertension that requires genetic counseling since at least 30% of PHEOs are associated with a germline mutation in a susceptibility gene. Neurofibromatosis type 1, is amongst the 16 known causing genes for pheochromocytomas/paragangliomas. We report a case of a 73-year-old man with PHEO in whom genetic testing revealed a large pathogenic heterozygous deletion of 1.

Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1.

Introduction: Guidelines do not currently recommend routine systematic hormonal screening for pheochromocytoma (PHEO) in all/normotensive patients with neurofibromatosis type 1 (NF1), in contrast to other PHEO-predisposing genetic syndromes such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2.

Objectives: To characterize and compare parameters of PHEO in patients with NF1 to patients with or without other germline mutations.

Methods: A retrospective chart review of patients with histologically proven PHEO at the Centre hospitalier de l'Université de Montréal from 2000 through 2015.

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.

Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: case report and review of literature.

We report on the fifth case, and oldest reported patient, of an individual affected with mosaic tetrasomy 5p resulting from an isochromosome 5p [i(5)(p10)] marker chromosome. A syndrome of mosaic tetrasomy 5p is defined, and includes the following features seen in the reported cases: developmental delay, seizures, ventriculomegaly (other brain anomalies), small stature/growth delay and mosaic pigmentary skin changes. Other findings include various dysmorphic facial features as well as hand and foot anomalies.

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

Primary microcephaly is a rare condition in which brain size is substantially diminished without other syndromic abnormalities. Seven autosomal loci have been genetically mapped, and the underlying causal genes have been identified for MCPH1, MCPH3, MCPH5, MCPH6, and MCPH7 but not for MCPH2 or MCPH4. The known genes play roles in mitosis and cell division.

Hereditary renal cell carcinoma associated with von Hippel-Lindau disease: a description of a Nova Scotia cohort.

Background: von Hippel-Lindau (VHL) disease is an autosomal dominant condition characterized by the development of benign and malignant tumours, including cases of renal cell carcinoma (RCC). Early detection of RCC through routine surveillance can lead to decreased morbidity and mortality. Data on the number of patients in Nova Scotia (NS) who have VHL disease, disease manifestations and the frequency and mode of the surveillance have not previously been collected or reported.

JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I.

We report a child with polycythemia vera (PV). This patient demonstrates the acquired somatic JAK2 V617F mutation and also has neurofibromatosis type I (NF1). NF1, while not previously associated with PV, is associated with another childhood MPD, juvenile myelomonocytic leukemia (JMML).