Özkan Sıdıka Gülkan, Kimiaei Ali, Safaei Seyedehtina, Karkucak Mutlu, Yenerel Mustafa Nuri, Öztürkmen Aslı Yüksel, Alp Burak, Özkan Hasan Atilla
Department of Internal Medicine, Division of Hematology, Faculty of Medicine, Bahçeşehir University, 34734 Istanbul, Turkey.
Genetic Diseases Assessment Center, İstinye University, 34010 Istanbul, Turkey.
Life (Basel). 2025 Mar 20;15(3):505. doi: 10.3390/life15030505.
Myeloproliferative neoplasm (MPN) with eosinophilia associated with is a rare eosinophilic disorder typically treated with imatinib. However, resistance due to the T674I mutation poses a significant challenge. This case presents the first reported instance of concurrent and (p.E76D) mutations in a 38-year-old male patient with MPN and eosinophilia. The patient initially responded to imatinib but developed resistance after ten months, leading to severe spinal cord compression caused by granulocytic sarcoma. Despite undergoing radiotherapy, chemotherapy, and allogeneic hematopoietic stem cell transplantation (allo-HSCT), the disease progressed. Although full donor chimerism was achieved post-transplant, the patient relapsed shortly afterward with eosinophilia, splenomegaly, and constitutional symptoms. Further treatments, including sorafenib and decitabine, failed to control the disease, and the patient ultimately died from multiorgan failure. This case illustrates the therapeutic challenges associated with -positive eosinophilic disorder, especially when compounded by the mutation. Resistance to standard treatments underscores the urgent need for novel therapies to manage this rare and aggressive disease.
伴有嗜酸性粒细胞增多的骨髓增殖性肿瘤（MPN）是一种罕见的嗜酸性粒细胞疾病，通常用伊马替尼治疗。然而，由于T674I突变导致的耐药性构成了重大挑战。本病例报告了首例38岁男性MPN伴嗜酸性粒细胞增多患者同时存在 和 （p.E76D）突变的情况。该患者最初对伊马替尼有反应，但十个月后出现耐药，导致粒细胞肉瘤引起严重脊髓压迫。尽管接受了放疗、化疗和异基因造血干细胞移植（allo-HSCT），疾病仍进展。虽然移植后实现了完全供体嵌合，但患者不久后复发，伴有嗜酸性粒细胞增多、脾肿大和全身症状。包括索拉非尼和地西他滨在内的进一步治疗未能控制疾病，患者最终死于多器官衰竭。本病例说明了与 -阳性嗜酸性粒细胞疾病相关的治疗挑战，尤其是在合并 突变时。对标准治疗的耐药性凸显了迫切需要新的疗法来治疗这种罕见且侵袭性的疾病。
