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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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Published on: September 20, 2016

EPAS1-mutated paragangliomas associated with haemoglobin disorders.

Maxence Mancini¹, Alexandre Buffet^1,2, Baptiste Porte¹

¹Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France.

British Journal of Haematology

|January 10, 2024

Summary

Patients with EPAS1-mutated paraganglioma (PGL) often have chronic hypoxia, with many showing haemoglobin disorders like sickle cell disease. This suggests sickle cell trait carriers may face higher EPAS1-PGL risks, impacting surveillance strategies.

Keywords:

EPAS1 haemoglobin disorders paraganglioma sickle cell disease

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Area of Science:

Endocrinology
Oncology
Genetics

Background:

EPAS1 gene mutations are linked to paraganglioma (PGL).
Chronic hypoxia is a potential underlying factor in PGL development.
Hemoglobinopathies, including sickle cell disease, are common in certain populations.

Purpose of the Study:

To investigate the prevalence of chronic hypoxia causes in patients with EPAS1-mutated PGL.
To explore the association between hemoglobin disorders and EPAS1-PGL.
To characterize the histological and transcriptomic features of EPAS1-PGL.

Main Methods:

Retrospective analysis of 40 patients with EPAS1-mutated PGL.
Assessment for chronic hypoxia, including hypoxemic heart disease.
Hemoglobin electrophoresis to identify hemoglobin disorders.
Histological and transcriptomic analysis of tumor samples.

Main Results:

Four patients had hypoxemic heart disease.
59% of patients with available results had a hemoglobin disorder (sickle cell disease, sickle cell trait, hemoglobin C disease).
EPAS1 tumors showed increased angiogenesis and resembled VHL-mutated PGLs.

Conclusions:

Sickle hemoglobinopathy carriers may have an increased risk of developing EPAS1-PGL.
These findings necessitate consideration in the management and surveillance of patients with EPAS1-PGL and hemoglobin disorders.
EPAS1-PGLs share similarities with pseudohypoxic PGLs, suggesting common underlying pathways.