Targeted therapy and immunotherapy are both important in the treatment of non-small-cell lung cancer (NSCLC). Accurate diagnose and precise treatment are key in achieving long survival of patients. MET fusion is a rare oncogenic factor, whose optimal detection and treatment are not well established. Here, we report on a 32-year-old female lung adenocarcinoma patient with positive PD-L1 and negative driver gene detected by DNA-based next-generation sequencing (NGS). A radical resection of the primary lesion after chemotherapy combined with PD-1 checkpoint inhibitor administration indicated primary immuno-resistance according to her pathological response and rapid relapse. A rare CD47-MET was detected by RNA-based NGS, which was confirmed by fluorescence in situ hybridization. Multiplex immunofluorescence revealed a PD-L1 related heterogeneous immunosuppressive microenvironment with little distribution of CD4+ T cells and CD8+ T cells. Savolitinib therapy resulted in a progression-free survival (PFS) of >12 months, until a new secondary resistance mutation in MET p.D1228H was detected by re-biopsy and joint DNA-RNA-based NGS after disease progression. In this case, CD47-MET fusion NSCLC was primarily resistant to immunotherapy, sensitive to savolitinib, and developed secondary MET p.D1228H mutation after targeted treatment. DNA-RNA-based NGS is useful in the detection of such molecular events and tracking of secondary mutations in drug resistance. To this end, DNA-RNA-based NGS may be of better value in guiding precise diagnosis and individualized treatment in this patient population.

YAP1-KMT2A融合肉瘤是一种罕见的软组织肉瘤新亚型，好发于青壮年，形态学与硬化性上皮样纤维肉瘤（SEF）有一定程度重叠，但不表达MUC4。本例患者为34岁女性，左腋下无痛性肿块半年。肿瘤周界相对清楚，由大小形态相对一致的上皮样细胞呈小簇状、短条索状、梁状、巢状或弥漫片状分布于致密胶原化间质中，局部可见血管外皮瘤样结构和地图样坏死。瘤细胞无显著异型性，核分裂象约15个/10 HPF。瘤细胞表达上皮细胞膜抗原、CD99、cyclin D1和BCOR，MUC4阴性。荧光原位杂交显示KMT2A基因易位，二代测序显示YAP1-KMT2A基因融合。常规病理工作中，若遇到形态类似SEF，但不表达MUC4的肿瘤，要考虑到YAP1-KMT2A融合肉瘤的可能性，并行分子检测予以明确。.

目的： 探讨儿童肾脏透明细胞肉瘤（CCSK）的临床病理学特征、诊断及预后。 方法： 收集首都医科大学附属北京儿童医院及河南省儿童医院2016年1月至2022年6月诊断的46例CCSK，观察其临床特征、组织学形态、免疫组织化学、分子遗传学特征及预后。 结果： 46例患者男性30例，女性16例，发病年龄3个月至11岁（中位年龄3岁），均为单侧，肿瘤最大径4.5~19.0 cm（中位数11 cm）；Ⅰ期15例，Ⅱ期26例，Ⅲ期4例，Ⅳ期1例；组织学除经典型外，常混有2~5种组织学亚型。术后25例（54.3%）转移和/或复发，5例死亡，复发时间1~107个月不等（中位数16个月），远处转移部位主要是肺、骨、脑。肿瘤最大径与无进展生存率存在相关性，临床分期与总生存率差异具有统计学意义。免疫组织化学标志物BCOR、Cyclin D1具有高灵敏度；分子病理检测显示89.1%（41/46）存在BCOR基因第15号外显子内部串联重复，2.2%（1/46）YWHAE-NUTM2重排，2.2%（1/46）BCOR-CCNB3基因融合，三者互斥，三者联合检测阳性率达93.5%（43/46）。 结论： CCSK好发于婴幼儿，肿瘤体积和分期与预后相关，组织病理联合免疫组织化学和分子检测可显著提高诊断准确性。.

暂无摘要。

暂无摘要。

暂无摘要。

暂无摘要。

Neurotrophic tyrosine receptor kinase (NTRK) gene fusions are implicated in various cancers, including those of the lung and thyroid. The prevalence of NTRK fusions is 0.1 to 0.3% in non-small cell lung cancer (NSCLC) and as high as 26% in pediatric papillary thyroid carcinoma. Detection methods include immunohistochemistry, fluorescence in situ hybridization, reverse transcription polymerase chain reaction, and next-generation sequencing. Management of NTRK fusion-positive lung cancer primarily involves targeted therapies, notably the tyrosine receptor kinase (TRK) inhibitors larotrectinib and entrectinib. Both agents demonstrate high response rates and durable disease control, particularly in metastatic adenocarcinoma of the lung. They are preferred as first-line treatments because of their efficacy over immunotherapy. Possible adverse events include dizziness, weight gain, neuropathy-like pain, and liver enzyme elevation. Larotrectinib and entrectinib also produce robust and durable responses in NTRK fusion-positive thyroid cancer that is refractory to radioactive iodine. Second-generation TRK inhibitors that have been designed to overcome acquired resistance are under investigation.

暂无摘要。

Twelve DEK-NUP214 fusion gene-positive patients with acute myeloid leukemia and on allo-HSCT treatment at the Hematology Hospital of the Chinese Academy of Medical Sciences from November 2016 to August 2022 were included in the study, and their clinical data were retrospectively analyzed. The patients comprised five men and seven women with a median age of 34 (16-52) years. At the time of diagnosis, all the patients were positive for the DEK-NUP214 fusion gene. Chromosome karyotyping analysis showed t (6;9) (p23;q34) translocation in 10 patients (two patients did not undergo chromosome karyotyping analysis), FLT3-ITD mutation was detected in 11 patients, and high expression of WT1 was observed in 11 patients. Nine patients had their primary disease in the first complete remission state before transplantation, one patient had no disease remission, and two patients were in a recurrent state. All patients received myeloablative pretreatment, five patients received sibling allogeneic hematopoietic stem cell transplantation, and seven patients received haploid hematopoietic stem cell transplantation. The median number of mononuclear cells in the transplant was 10.87 (7.09-17.89) ×10(8)/kg, and the number of CD34(+) cells was 3.29 (2.53-6.10) ×10(6)/kg. All patients achieved blood reconstruction, with a median time of 14 (10-20) days for neutrophil implantation and 15 (9-27) days for platelet implantation. The 1 year transplant-related mortality rate after transplantation was 21.2%. The cumulative recurrence rates 1 and 3 years after transplantation were 25.0% and 50.0%, respectively. The leukemia free survival rates were (65.6±14.0) % and (65.6±14.0) %, respectively. The overall survival rates were (72.2±13.8) % and (72.2±13.8) %, respectively.
2016年11月至2022年8月期间，12例DEK-NUP214融合基因阳性急性髓系白血病患者在中国医学科学院血液病医院接受异基因造血干细胞移植（allo-HSCT）。12例患者中男5例，女7例，中位年龄34（16~52）岁。12例患者初诊时均检出DEK-NUP214融合基因阳性，10例患者染色体核型分析显示t（6;9）（p23;q34）易位（2例患者未行染色体核型分析），11例患者检出FLT3-ITD突变，11例患者检出WT1高表达。9例患者allo-HSCT前处于第一次完全缓解状态，1例患者疾病未缓解，2例患者处于复发状态。所有患者均接受清髓性预处理，5例患者接受同胞全相合造血干细胞移植，7例患者接受单倍体造血干细胞移植。移植物单个核细胞中位数为10.87（7.09~17.89）×10(8)/kg，CD34(+)细胞中位数为3.29（2.53~6.10）×10(6)/kg。所有患者均获得造血重建，粒细胞植入中位时间为14（10~20）d，血小板植入中位时间为15（9~27）d。移植后1年移植相关死亡率为21.2%。移植后1、3年累积复发率分别为25.0%、50.0%，无白血病生存率为（65.6±14.0）%，总生存率为（72.2±13.8）%。.