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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Familial pheochromocytoma.

Zoran Erlic¹, Hartmut P H Neumann

¹Section for Preventive Medicine, Department of Nephrology and General Medicine, University Medical Center, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.

Hormones (Athens, Greece)

|March 10, 2009

Summary

Pheochromocytomas and paragangliomas are tumors arising from paraganglia. Diagnosis involves biochemical and imaging tests, with genetic mutations found in one-third of patients, necessitating early detection and regular follow-up for better outcomes.

Area of Science:

Endocrinology
Oncology
Genetics

Background:

Pheochromocytomas and paragliomas (PGL) are tumors of paraganglial cells, occurring from the skull base to the pelvic floor.
Terminology varies, with the World Health Organization (WHO) reserving 'pheochromocytoma' for adrenal tumors, while clinicians often use it for extra-adrenal tumors.
Diagnosis is confirmed through biochemical testing and radiological imaging.

Purpose of the Study:

To provide a comprehensive overview of pheochromocytomas and paragangliomas, including their classification, genetic basis, and clinical management.
To highlight the diagnostic criteria and hereditary aspects of these tumors.
To discuss current treatment modalities and the importance of early detection.

Main Methods:

Review of current literature on pheochromocytomas and paragangliomas.

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Analysis of diagnostic criteria, including biochemical and radiological assessments.

Examination of genetic mutations associated with these tumors, such as those in SDH genes, NF1, MEN2, and VHL disease.

Overview of treatment strategies, including surgery, chemotherapy, and radionuclear approaches.

Main Results:

One-third of patients have germline mutations, indicating hereditary disorders like Neurofibromatosis (NF) 1, Multiple Endocrine Neoplasia type 2 (MEN2), and Von Hippel-Lindau (VHL) disease.
Specific genetic mutations (SDHD, SDHC, SDHB) are linked to PGL syndromes, with varying tumor locations and inheritance patterns.
Familial cases often present at a younger age with multifocal or extra-adrenal tumors, and PGL 4/VHL predispose to malignant forms.
Endoscopic surgery is the primary treatment; chemotherapy and radionuclear therapies are options for malignant cases.

Conclusions:

Early diagnosis and regular follow-up are crucial for improving outcomes in patients with pheochromocytomas and paragangliomas, especially in hereditary cases.
While specific preventive treatments for inherited disorders are lacking, understanding genetic predispositions aids in risk assessment and management.
Continued research into the genetic underpinnings and therapeutic strategies for these tumors is essential.