DETECTION OF JAK2 V617F MUTATION IN A PATIENT WITH C-KIT POSITIVE GASTROINTESTINAL STROMAL TUMOR: CASE REPORT

Sanja Trajkova; Svetlana Krstevska Balkanov; Aleksandra Pivkova Veljanovska; Fana Lichoska-Josifovikj; Marija Popova-Labacevska; Nevenka Ridova; Simona Stojanovska Jakimovska; Lazar Cadievski; Milce Cvetanovski; Bozidar Kocoski; Andrea Paunovska; Martin Stojanovski; Merve Purde; Irina Panovska Stavridis

Sanja Trajkova University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Svetlana Krstevska Balkanov University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Aleksandra Pivkova Veljanovska University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Fana Lichoska-Josifovikj University Clinic of Gastroenterohepatology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Marija Popova-Labacevska University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Nevenka Ridova University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Simona Stojanovska Jakimovska University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Lazar Cadievski University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Milce Cvetanovski University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Bozidar Kocoski University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Andrea Paunovska University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Martin Stojanovski University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Merve Purde University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia
Irina Panovska Stavridis University Clinic for Hemathology, Faculty of Medicine, Ss.Cyril and Methodius University in Skopje, North Macedonia

Abstract

C-Kit is receptor tyrosine kinase which is involved in various signaling pathways and has been recognized in pathogenesis of several types of cancers including gastrointestinal stromal tumor (GIST). More than 50 years, scientist have been studied GIST and made advances in treatment based on c-Kit inhibition. One of the signaling pathway involving activation via c-Kit is the JAK/STAT pathway located on hematopoietic cells resulting activation of transcription of a variety of genes. Here, we provide a case report of patient with two malignancy c-Kit positive GIST and Essential Thrombocytemia (ET) positive for JAK2 V617F mutation.

Keywords: c-Kit, GIST, JAK2 V617F mutation, ET.

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