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Differences between Patients with Sporadic and Familial Pheochromocytoma-Is It Possible to Avoid Genetic Testing in Certain Patients?
Biomedicines
June 2024
Endocrine Surgery Unit, General and Digestive Surgery Service, Hospital Universitario Virgen de la Arrixaca, 30120 Murcia, Spain.
Background: Pheochromocytoma (PHEO) is a rare neuroendocrine tumour with a strong genetic link, which therefore may modify its clinical behaviour and prognosis. The aim of the study is to evaluate the epidemiological and clinical differences between patients with sporadic and familial PHEO, as well as the specific differences in the index cases.
Methods: A retrospective analysis of 136 patients in a tertiary hospital (1984-2021).
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Endocr Oncol
January 2023
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA.
Mutations that predispose to familial pheochromocytoma and paraganglioma include inherited variants in the four genes (, , and ) encoding subunits of succinate dehydrogenase (SDH), an enzyme of the mitochondrial tricarboxylic acid cycle and complex II of the electron transport chain. In heterozygous variant carriers, somatic loss of heterozygosity is thought to result in tumorigenic accumulation of succinate and reactive oxygen species. Inexplicably, variants affecting the SDHB subunit predict worse clinical outcomes.
View Article and Find Full Text PDFSuccinate Dehydrogenase Mutations as Familial Pheochromocytoma Syndromes.
Surg Oncol Clin N Am
April 2023
Department of Surgical Oncology, Division of Surgical Endocrinology, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Unit 1484, Houston, TX 77030, USA. Electronic address:
It is recognized that a large portion of pheochromocytoma and paraganglioma cases will have an underlying germline mutation, supporting the recommendation for universal genetic testing in all patients with PPGLs. A mutation in succinate dehydrogenase subunit B is associated with increased rates of developing synchronous and/or metachronous metastatic disease. Patients identified with this mutation require meticulous preoperative evaluation, a personalized surgical plan to minimize the risk of recurrence and tumor spread, and lifelong surveillance.
View Article and Find Full Text PDFRET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas.
Genes (Basel)
May 2022
Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing 100037, China.
Familial PHEOs (pheochromocytomas) are inherited as an autosomal dominant trait, and inherited PHEOs can be one clinical phenotype of clinical syndromes, such as multiple endocrine neoplasia type 2A (MEN2A). In recent years, there has been a lot of controversy about the factors affecting the penetrance of PHEOs in MEN2A, of which the effects of RET (rearranged during transfection) proto-oncogene mutations are the primary concern. In this report, we performed genetic screening of patients in one family presenting with PHEOs and found they carried a RET c.
View Article and Find Full Text PDFA case of juvenile-onset pheochromocytoma with KIF1B p.V1529M germline mutation.
Endocr J
June 2022
Genome Analysis Center, Yamanashi Central Hospital, Kofu 400-8506, Japan.
In 2008, a familial noradrenergic pheochromocytoma (PCC) with a KIF1B germline mutation in exon 41 was reported in a 24-year-old female proband and her family. However, in 2020, the same research group reported that the cause of PCC in this family was a MAX germline mutation and was not due to the KIF1B mutation. In this study, we investigated the pathogenicity of a KIF1B germline mutation detected in a 26-year-old woman with juvenile-onset noradrenergic PCC.
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