RNF43 p.G659fs 通过 PI3K/AKT/mTOR 信号通路和 HLA-E 上调导致 MSI-high 结直肠癌中 NK 细胞功能障碍
RNF43 p.G659fs leads to natural killer cell dysfunction in MSI-high colorectal cancer through PI3K/AKT/mTOR signaling and HLA-E up-regulation.
CELL INTELLIGENCE · 肿瘤细胞治疗研究
肿瘤细胞治疗研究
英文原题:A case of acute liver failure due to aggressive natural killer-cell leukemia with a rapid course.
A case of acute liver failure due to aggressive natural killer-cell leukemia with a rapid course.
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一名87岁男性因黑便就诊于前医生处,并因贫血和多发性胃溃疡而入院。实验室检查显示其肝胆酶水平和炎症反应升高。计算机断层扫描显示肝脾肿大和腹腔内淋巴结增大。两天后,因肝功能恶化,他被转至我院。由于他意识水平低下且氨水平高,我们诊断其为伴有肝性脑病的急性肝衰竭(ALF),并开始进行在线血液透析滤过。作为ALF的病因,我们怀疑是血液系统肿瘤累及肝脏,因为乳酸脱氢酶和可溶性白细胞介素-2受体水平高,且外周血中存在大的异常淋巴细胞样细胞。由于其一般状况差,骨髓及其他组织学检查难以进行,他于住院第三天死亡。病理解剖显示明显的肝脾肿大,以及骨髓、肝脏、脾脏和淋巴结中大的异常淋巴细胞样细胞增殖。免疫染色显示为侵袭性NK 细胞白血病(ANKL)。我们在此报告一例由ANKL导致伴有昏迷的ALF发展的罕见病例,并复习相关文献。
An 87-year-old man consulted a former doctor with a complaint of black stool and was admitted to hospital because of anemia and multiple gastric ulcers. The laboratory findings showed that his hepatobiliary enzyme levels and inflammatory response were elevated. Computed tomography showed hepatosplenomegaly and enlarged intra-abdominal lymph nodes. Two days later, he was transferred to our hospital due to deterioration of his liver function. Since he had low level of consciousness and his ammonia level was high, we diagnosed him with acute liver failure (ALF) with hepatic coma, and started on-line hemodiafiltration.
As the cause of ALF, we suspected hepatic involvement of a hematologic tumor because of high lactate dehydrogenase and soluble interleukin-2 receptor levels and large abnormal lymphocyte-like cells in the peripheral blood. Because of his poor general condition, bone marrow and other histological examinations were difficult, and he died on the third day of hospitalization.
Pathological autopsy showed marked hepatosplenomegaly and the proliferation of large abnormal lymphocyte-like cells in the bone marrow, liver, spleen, and lymph nodes. Immunostaining revealed aggressive natural killer-cell leukemia (ANKL).
We herein report a rare case of the development of ALF with coma due to ANKL with a review of the relevant literature.
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