Urrea Pineda Lizeth Yamile, Perilla Oliver, Santiago-Pacheco Vanessa, Trujillo Montoya Simon
Internal Medicine, Hospital San Vicente Fundacion, Rionegro, COL.
Hematology, Hospital San Vicente Fundacion, Rionegro, COL.
Cureus. 2022 Mar 1;14(3):e22734. doi: 10.7759/cureus.22734. eCollection 2022 Mar.
The 8p11 myeloproliferative syndrome (EMS) is an aggressive neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 tyrosine kinase gene on chromosome 8p11. We report the case of a 31-year-old man with no prior medical history who presents with two weeks of sore throat and cervical lymphadenopathy up to 5 cm. Initial peripheral blood examination showed leukocytosis with predominantly neutrophils and eosinophilia. A CT scan demonstrated mediastinal lymphadenopathies, liver enlargement and splenomegaly. An excisional biopsy of a cervical lymph node demonstrated findings consistent with a diagnosis of T-cell lymphoblastic lymphoma. Bone marrow aspirate and biopsy revealed hypercellular marrow with granulocytic predominance, left-shifted granulopoiesis, eosinophilia and the cytogenetic analysis showed the following karyotype: 46, XY, t(8;13). The final diagnosis was a myeloproliferative syndrome with eosinophilia related to t(8;13) and T-cell acute lymphoblastic lymphoma (8p11 myeloproliferative syndrome). We review the relevant literature about this unusual entity.
8p11骨髓增殖综合征(EMS)是一种侵袭性肿瘤,与涉及8号染色体p11上成纤维细胞生长因子受体1酪氨酸激酶基因的染色体易位有关。我们报告了一例31岁男性病例,该患者既往无病史,出现咽痛两周,颈部淋巴结肿大达5厘米。初始外周血检查显示白细胞增多,以中性粒细胞为主,并伴有嗜酸性粒细胞增多。CT扫描显示纵隔淋巴结肿大、肝脏肿大和脾肿大。颈部淋巴结切除活检结果符合T细胞淋巴母细胞淋巴瘤的诊断。骨髓穿刺和活检显示骨髓细胞增多,以粒细胞为主,粒细胞生成左移,嗜酸性粒细胞增多,细胞遗传学分析显示以下核型:46,XY,t(8;13)。最终诊断为与t(8;13)相关的嗜酸性粒细胞增多性骨髓增殖综合征和T细胞急性淋巴细胞白血病(8p11骨髓增殖综合征)。我们回顾了关于这个不寻常实体的相关文献。