Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience.
Young Eun LeeSoo Hyun SeoJinho KimSang-A KimJi Yun LeeJeong Ok LeeSoo-Mee BangKyoung Un ParkSang Mee HwangPublished in: Molecular diagnosis & therapy (2024)
Somatic and germline mutations were identified in 36.4% and 33.3 % of the JAK2-unmutated group; most variants had unknown clinical significance. Not all genetic causes have been identified; comprehensive diagnostic approaches are crucial for identifying the cause of erythrocytosis.