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Article

Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia.

Medicina (Kaunas, Lithuania) - 17 Aug 2022

Provenzano Aldesia, Chetta Massimiliano, De Filpo Giuseppina, Cantini Giulia, La Barbera Andrea, Nesi Gabriella, Santi Raffaella, Martinelli Serena, Rapizzi Elena, Luconi Michaela, Maggi Mario, Mannelli Massimo, Ercolino Tonino, Canu Letizia

Abstract excerpt

Background: Pheochromocytoma (Pheo) and paraganglioma (PGL) are rare tumors, mostly resulting from pathogenic variants of predisposing genes, with a genetic contribution that now stands at around 70%. Germline variants account for approximately 40%, while the remaining 30% is attributable to somatic variants. Objective: This study aimed to describe a new PHD2 (EGLN1) variant in a patient affected by metastatic...

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Share to Adrenal and Paraganglionic Tumors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Leukemia, Myelogenous, Chronic, BCR-ABL Positive

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Identifiers

PMID: 36013579
DOI: 10.3390/medicina58081113
PMCID: PMC9416477

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