EPAS1-mutated paragangliomas associated with haemoglobin disorders.
Maxence ManciniAlexandre BuffetBaptiste PorteLaurence AmarCharlotte Lussey-LepoutreLise CrinièreEric BaudinTchao MeatchiAnne-Paule Gimenez-RoqueploJudith FavierNelly BurnichonPublished in: British journal of haematology (2024)
We report a large series of 40 patients presenting EPAS1-mutated paraganglioma (PGL) in whom we investigated a cause underlying chronic hypoxia. Four patients suffered from hypoxaemic heart disease. In patients with available haemoglobin electrophoresis results, 59% presented with a haemoglobin disorder, including six with sickle cell disease, five with sickle cell trait and two with heterozygous haemoglobin C disease. Histological and transcriptomic characterization of EPAS1 tumours revealed increased angiogenesis and high similarities with pseudohypoxic PGLs caused by VHL gene mutations. Sickle haemoglobinopathy carriers could thus be at increased risk for developing EPAS1-PGLs, which should be taken into account in their management and surveillance.
Keyphrases
- end stage renal disease
- ejection fraction
- newly diagnosed
- chronic kidney disease
- prognostic factors
- peritoneal dialysis
- public health
- endothelial cells
- single cell
- patient reported outcomes
- intensive care unit
- early onset
- mass spectrometry
- high resolution
- patient reported
- genome wide
- extracorporeal membrane oxygenation
- drug induced
- mechanical ventilation