Colorectal cancer (CRC)

结直肠癌 (CRC)
  • 文章类型: Case Reports
    已经有结肠直肠癌(CRC)转移到卵巢的病例。这项研究报告了一例涉及CRC的孤立性卵巢转移(OM)的病例,在没有其他盆腔和腹膜转移的情况下非常罕见。这种非典型的临床表现增加了诊断的复杂性。
    我们报告了一名48岁女性的单发OM-CRC病例。患者接受了CRC手术,并在三轮化疗后拒绝随访。大约14个月后,患者出现阴道出血2个月。磁共振成像(MRI)显示右侧附件中有一个巨大的实性囊性肿块。术中,发现右卵巢增大且光滑,无粘连。通过仔细检查腹腔,左侧卵巢和子宫未发现转移灶,在骨盆和腹部的其余部分没有发现种子。切除子宫和双侧附件后,组织学检查显示,右侧卵巢转移性腺癌,被认为是起源的直肠癌。多种肿瘤相关标志物阳性染色,这进一步确立了CRC的首要性质。这些发现支持原发性CRC和卵巢转移的可能诊断。患者术后恢复良好,术后18个月无复发或转移。
    通过提高临床医生对这种罕见疾病的警惕性,可以更好地管理和治疗来自CRC的孤立性卵巢转移。这有助于改善患者的预后和生活质量。
    UNASSIGNED: There have been cases of colorectal cancer (CRC) metastasizing into the ovary. This study reports a case involving solitary ovarian metastasis (OM) from CRC, which is very rare in the absence of other pelvic and peritoneal metastases. This atypical clinical presentation added to the complexity of the diagnosis.
    UNASSIGNED: We report a case of solitary OM-CRC in a 48-year-old woman. The patient underwent CRC surgery and refused follow-up after three rounds of chemotherapy. Approximately 14 months later, the patient presented with vaginal bleeding for 2 months. The magnetic resonance imaging (MRI) showed a huge solid cystic mass in the right adnexa. Intraoperatively, the right ovary was found to be enlarged and smooth without adhesions. By careful examination of the abdominal cavity, no metastatic lesions were found in the left ovary and uterus, and no seedings were found in the rest of the pelvis and abdomen. After removal of the uterus and bilateral adnexa, the histologic examination revealed metastatic adenocarcinoma of the right ovary with a considered rectal carcinoma of origin. Positive staining for multiple tumor-associated markers, which further established the primary nature of CRC. These findings support a possible diagnosis of primary CRC and ovarian metastases. The patient recovered well after the operation and no recurrence or metastasis was seen 18 months after the operation.
    UNASSIGNED: Solitary ovarian metastases from CRC can be better managed and treated by increasing clinicians\' vigilance for this rare condition. This helps to improve the patient\'s prognosis and quality of life.
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  • 文章类型: Case Reports
    早发性结直肠癌(EOCRC),定义为50岁以下个体的结直肠癌,已经显示出全球发病率的惊人增长。我们报告了一例24岁的女性,具有强烈的结直肠癌(CRC)家族史,但没有确定的潜在遗传易感性综合征。初次手术和辅助化疗后两年,病人出现了新的肝脏病变。进行了广泛的诊断成像以调查可疑的肝转移,最终导致局灶性结节增生的诊断。患者的年轻年龄促进了全面的基因组和转录组学分析,以识别潜在的致癌驱动因素并为患者的进一步临床管理提供信息。除了在患者的肿瘤样本中发现的许多致癌突变,包括KRASG12D,TP53R248W和TTNL28470V,我们还发现8号染色体上有一个24.5MB的纯合缺失.与TCGACOADREAD数据库相比,该患者突变谱的多变量Cox回归分析预后良好。值得注意的是,8号染色体上确定的缺失包括WRN基因,这可能有助于患者对化疗的总体阳性反应。复杂的临床表现,包括需要紧急手术,诊断时年龄较早,强烈的家族史,以及监视成像的意外发现,需要一种涉及医学的多学科方法,辐射,和外科肿瘤学家,以及心理支持和生殖医学专家。肿瘤的分子谱分析强烈表明,具有复杂突变谱和罕见基因组重排的患者需要长期监测和个性化知情干预。
    Early-onset colorectal cancer (EOCRC), defined as colorectal cancer in individuals under 50 years of age, has shown an alarming increase in incidence worldwide. We report a case of a twenty-four-year-old female with a strong family history of colorectal cancer (CRC) but without an identified underlying genetic predisposition syndrome. Two years after primary surgery and adjuvant chemotherapy, the patient developed new liver lesions. Extensive diagnostic imaging was conducted to investigate suspected liver metastases, ultimately leading to a diagnosis of focal nodular hyperplasia. The young age of the patient has prompted comprehensive genomic and transcriptomic profiling in order to identify potential oncogenic drivers and inform further clinical management of the patient. Besides a number of oncogenic mutations identified in the patient\'s tumour sample, including KRAS G12D, TP53 R248W and TTN L28470V, we have also identified a homozygous deletion of 24.5 MB on chromosome 8. A multivariate Cox regression analysis of this patient\'s mutation profile conferred a favourable prognosis when compared with the TCGA COADREAD database. Notably, the identified deletion on chromosome 8 includes the WRN gene, which could contribute to the patient\'s overall positive response to chemotherapy. The complex clinical presentation, including the need for emergency surgery, early age at diagnosis, strong family history, and unexpected findings on surveillance imaging, necessitated a multidisciplinary approach involving medical, radiation, and surgical oncologists, along with psychological support and reproductive medicine specialists. Molecular profiling of the tumour strongly indicates that patients with complex mutational profile and rare genomic rearrangements require a prolonged surveillance and personalised informed interventions.
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  • 文章类型: Case Reports
    具有Raf鼠肉瘤病毒癌基因同源物B(BRAF)V600E的结直肠癌(CRC)具有相对较差的预后。间变性淋巴瘤激酶(ALK)融合和间充质到上皮转化因子(MET)扩增已被认为是非小细胞肺癌(NSCLC)的潜在重要治疗靶标。然而,两者在转移性CRC中的频率极低(<2%),很少有研究提到其抑制剂在CRC治疗中的实际应用。
    一名49岁的中国男性被诊断为升结肠腺癌(cT3N?M1)伴肝脏转移。患者使用组织和循环肿瘤DNA(ctDNA)进行了下一代测序(NGS),结果显示BRAFV600E突变。他接受了西妥昔单抗的初始联合治疗,Dabrafenib,曲美替尼和部分缓解(PR)评估。由于患者对药物不耐受或治疗无效,我们多次改变了该患者的治疗方案。在此期间,我们在三联体靶向治疗后通过NGS检测到c-MET扩增和原肌球蛋白4(TPM4)-ALK融合(tislelizumab,Dabrafenib,和曲美替尼),因此,他最终用程序性细胞死亡蛋白1(PD-1)抑制剂(tislelizumab)治疗,MET/ALK抑制剂(克唑替尼)加多激酶抑制剂(瑞戈非尼)。影像学检查显示达到PR,ctDNA测序结果表明BRAF突变频率明显降低,MET扩增和TPM4-ALK融合是检测不到的。外周血的NGS分析显示,在持续治疗的2个月内,MET获得性耐药扩增突变复发。但患者被评估为PR,仍在接受克唑替尼治疗,tislelizumab和regorafenib在良好的身体条件下。在2021年10月的最后一次随访中,患者因阻塞性黄疸对症治疗失败而死亡。患者最终获得11个月的总生存期。
    这项研究报告了BRAFV600E突变的共存,CRC患者的c-MET扩增和TPM4-ALK融合。克唑替尼联合雷戈非尼和tislelizumab的给药获得了明显的反应。此外,连续ctDNA检测似乎是一种有前途的技术来监测肿瘤负荷,这可能在疾病过程中提供更好的临床决策支持。
    UNASSIGNED: Colorectal cancer (CRC) with the Raf murine sarcoma viral oncogene homolog B (BRAF) V600E had a relatively poor prognosis. Anaplastic lymphoma kinase (ALK) fusion and the mesenchymal-to-epithelial transition factor (MET) amplification have been recognized as potentially important therapeutic targets in non-small cell lung cancer (NSCLC). However, both of them are of extremely lower frequencies (<2%) in metastatic CRC, and few studies have mentioned the real application of their inhibitors in CRC treatment.
    UNASSIGNED: A 49-year-old Chinese male was diagnosed with ascending colon adenocarcinoma (cT3N+?M1) with liver metastases. The patient performed next-generation sequencing (NGS) using tissue and circulating tumor DNA (ctDNA), and the results showed a BRAF V600E mutation. He received an initial combination treatment with cetuximab, dabrafenib, and trametinib with a partial response (PR) assessment. We changed the therapy regimen on this patient several times because of the patient\'s intolerance to the drugs or the inefficacy of the treatment. During this period, we detected the c-MET amplification and tropomyosin 4 (TPM4)-ALK fusion by NGS after triplet targeted therapy (tislelizumab, dabrafenib, and trametinib), thus he was finally treated with programmed cell death protein 1 (PD-1) inhibitor (tislelizumab), MET/ALK inhibitor (crizotinib) plus multikinase inhibitor (regorafenib). Imageological examinations showed that PR was achieved and ctDNA sequencing results indicated a significantly reduced BRAF mutation frequency, MET amplification and TPM4-ALK fusion were undetectable. NGS analysis of peripheral blood showed a recurrence of the MET acquired resistant amplification mutation over 2 months of ongoing treatment. but the patient was assessed as PR and still under treatment of crizotinib, tislelizumab and regorafenib within good physical condition. At the last follow-up on October 2021, the patient died of symptomatic treatment fail for obstructive jaundice. The patient finally achieved 11 months overall survival.
    UNASSIGNED: This study reported a co-existence of a BRAF V600E mutation, c-MET amplification and TPM4-ALK fusion in a CRC patient. Administration of crizotinib combined with regorafenib and tislelizumab obtained an obvious response. Furthermore, continuous ctDNA detection appears to be a promising technique to monitor tumor burden, which may provide better clinical decision support during the disease course.
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  • 文章类型: Journal Article
    UNASSIGNED: Patients with metastatic colorectal cancer (mCRC) beyond second line treatment have a poor prognosis. Fruquintinib, regorafenib, trifluridine/tipiracil (TAS-102), panitumumab and cetuximab combined with single-agent chemotherapy regimens are currently recommended as third-line therapies for patients exhibiting disease progression. Effective late-line therapies for mCRC are urgently needed. The FRESCO randomized clinical trial (RCT) prompts fruquintinib as a third-line treatment in advanced colorectal cancer (CRC). A phase II study in our center reported the efficacy and safety of S-1 plus raltitrexed for the treatment of chemo-refractory mCRC. The combination of the fruquintinib, raltitrexed, and S-1 has not been reported in mCRC.
    UNASSIGNED: This case report presents a patient with mCRC who received third-line treatment with fruquintinib, raltitrexed, and S-1. A 54-year-old male presenting with hematochezia was admitted to West China Hospital of Sichuan University in June 2017 and underwent surgery for a tumor between the rectum and sigmoid colon. Postoperative pathology identified adenocarcinoma (wild-type RAS/RAF, no PIK3CA mutation), and the patient was diagnosed with mCRC (pathological stage, pT3pN1apM0). The mFOLFOX6 regimen was administered. The patient was subsequently diagnosed with Hodgkin lymphoma in May 2018 and treated with the ABVD regimen after multidisciplinary discussions. Liver metastases (intestinal-type adenocarcinoma) were detected in November 2018, and second-line therapy with the FOLFIRI regimen was initiated in January 2019. Lung metastases were identified in September 2019, so the patient was treated with a combination of raltitrexed, S-1, and fruquintinib. A partial response (PR) was detected in November 2019, and the patient underwent resection of the hepatic lesion on November 5, 2020. Computed tomography (CT) images in November 2021 revealed a stable disease; thus, raltitrexed was discontinued, and S-1 and fruquintinib were maintained. The treatment is still responding until the last follow-up (December 2022).
    UNASSIGNED: The case was characterized by the simultaneous existence of mCRC and Hodgkin lymphoma, which required management by a multidisciplinary team. Third-line therapy with fruquintinib, raltitrexed, and S-1 achieved a PR that permitted surgical resection and enabled a relatively long progression-free survival. The findings suggest that the three agents regimen might be clinically effective as late-line therapy for mCRC.
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  • 文章类型: Case Reports
    未经证实:结直肠癌(CRC)在人类癌症中发病率最高的排名第三。随着抗癌药物的不断发展,CRC患者的治疗越来越有效。然而,不可切除的转移性CRC(mCRC)患者的治疗仍然是全世界外科医生的核心要点,特别是对于那些具有微卫星稳定性(MSS)和BRAFV600E突变,据报道预后最差的人。
    未经证实:我们报告一例病理性完全缓解的患者,患有不可切除的MSS,使用Vemurafenib和西妥昔单抗联合Camrelizumab后,BRAFV600E突变的转移性直肠癌。
    UNASSIGNED:该病例提示维罗非尼和西妥昔单抗联合卡姆瑞珠单抗治疗MSS有效,BRAFV600E突变的mCRC。让更多患者受益,需要进一步的研究。
    UNASSIGNED: Colorectal cancer (CRC) ranks third in highest incidence among human cancers. With the continuous development of anti-cancer drugs, CRC patients are treated more and more effectively. However, the treatment of patients with unresectable metastatic CRC (mCRC) remains a core point for surgeons worldwide, especially for those with microsatellite stability (MSS) and BRAF V600E mutation, who have been reported to have the worst prognosis.
    UNASSIGNED: We report a case of pathological complete remission in a patient with unresectable MSS, BRAF V600E-mutated metastatic rectal cancer after using Vemurafenib and Cetuximab in combination with Camrelizumab.
    UNASSIGNED: This case suggested that Vemurafenib and Cetuximab combined with Camrelizumab is effective in the treatment of MSS, BRAF V600E-mutated mCRC. To benefit more patients, further studies need to be completed.
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  • 文章类型: Case Reports
    25-50%的结直肠癌(CRC)患者出现结直肠肝转移(CRLM)。然而,CRLM伴胆管癌血栓(BDTT)罕见,常在手术切除后诊断。我们报告了一名79岁女性的CRLM与BDTT相关的病例。她在64岁时因乙状结肠癌接受了乙状结肠切除术。十五年后,腹部计算机断层扫描显示肝肿瘤,IV/V段有胆道肿瘤血栓,肝内胆管局部扩张。此外,磁共振成像证实肝IV/V段肿瘤和胆管肿块(B4)。在诊断为肝内胆管癌或转移性肝肿瘤并在肝内胆管发展的情况下,进行了扩大的左肝叶切除术。切除标本显示明显的癌浸润到肝内胆管(B4),形成肿瘤血栓.肿瘤是中分化腺癌,组织学类似乙状结肠癌。带有BDTT的CRLM可能具有相对较低的恶性侵袭潜力,在初次切除后间隔较长。当具有CRC病史的患者出现BDTT时,应考虑CRLM联合BDTT和手术治疗的可能性,因为切除可以导致良好的预后。重要的是在手术期间确保胆管的安全手术边缘,并且应考虑解剖性肝切除术。
    UNASSIGNED:在线版本包含补充材料,可在10.1007/s13691-022-00583-6获得。
    Colorectal liver metastasis (CRLM) appears in 25-50% of patients with colorectal cancer (CRC). However, CRLM with bile duct tumor thrombus (BDTT) is rare and often diagnosed after surgical resection. We report a case of CRLM associated with BDTT in a 79 year-old woman. She underwent sigmoid colectomy for sigmoid colon carcinoma at the age of 64. Fifteen years later, abdominal computed tomography revealed a liver tumor with a biliary tumor thrombus in segment IV/V and localized dilation of the intrahepatic bile duct. Additionally, magnetic resonance imaging confirmed a tumor in liver segment IV/V and mass in the bile duct (B4). Extended left hepatic lobectomy was performed under the diagnosis of intrahepatic cholangiocarcinoma or metastatic liver tumor with tumor development in the intrahepatic bile duct. The resected specimen showed significant cancer infiltration into the intrahepatic bile duct (B4), forming a tumor thrombus. The tumor was a moderately differentiated adenocarcinoma, histologically similar to sigmoid colon cancer. CRLM with BDTT may have a relatively low invasive potential of malignancy with a long interval after primary resection. When a patient with a history of CRC presents with BDTT, the possibility of CRLM with BDTT and surgical treatment should be considered, because resection could lead to a good prognosis. It is important to ensure a secure surgical margin in the bile ducts during surgery and anatomical hepatic resection should be considered.
    UNASSIGNED: The online version contains supplementary material available at 10.1007/s13691-022-00583-6.
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  • 文章类型: Case Reports
    UNASSIGNED:贝伐单抗联合氟尿嘧啶是目前推荐的转移性结直肠癌维持治疗,但是贝伐单抗的使用需要在医院进行,这无形中增加了患者在COVID-19流行期间接触2019年冠状病毒病(COVID-19)的风险。因此,除了方便的优势,所有口服药物作为维持治疗可以减少COVID-19流行期间的住院和潜在暴露风险,值得进一步探讨。
    UNASSIGNED:首例是一名49岁男性,患有IV期结肠腺癌和肝功能异常,接受贝伐单抗联合FOLFOXIRI(8个周期),之后他的肝功能恢复了.在血小板减少症发展时停用奥沙利铂。自2020年11月以来,患者最终维持口服氟喹替尼和卡培他滨治疗,并且在超过15个月内无进展。2级白细胞减少症,中性粒细胞减少症,血小板减少;1级末端神经损伤;1级手足麻木。第二例是一名48岁的男性,患有晚期结肠癌,他接受了腹腔镜乙状结肠切除术。手术后,患者开始服用氟尿嘧啶和亚叶酸(1个周期),随后是西妥昔单抗和化疗的转换治疗(6个周期)。患者接受左半肝切除术,右叶部分肝切除术,术中射频消融,之后他继续接受西妥昔单抗和化疗.患者自12月以来一直口服氟喹替尼和卡培他滨,2020年,已经超过14个月无进展。Grade1骨髓抑制,白细胞减少症,和中性粒细胞减少症,观察到2级血小板减少.
    UNASSIGNED:该病例报告基于初步证据,主张口服氟喹替尼-卡培他滨维持治疗,替代贝伐单抗-卡培他滨标准治疗,用于CRC患者。尤其是在COVID-19流行的时代。该方案可以减少住院和潜在的COVID-19接触,比静脉给药更方便。这在今后的研究中应进一步探讨。
    UNASSIGNED: Bevacizumab combined with fluorouracil is the currently recommended maintenance treatment for metastatic colorectal cancer, but the use of bevacizumab needs to be carried out in hospitals, which invisibly increases the risk of patients\' exposure to coronavirus disease 2019 (COVID-19) during the COVID-19 epidemic. Therefore, except of the advantage of convenience, all oral drugs as the maintenance treatment can reduce hospitalization and potential exposure risk during the COVID-19 epidemic, which is worth further exploration.
    UNASSIGNED: First case was a 49-year-old male with stage IV colon adenocarcinoma and abnormal liver function who was given bevacizumab with FOLFOXIRI (8-cycles), following which his liver function recovered. Oxaliplatin was stopped upon thrombocytopenia development. The patient was finally maintained on oral fruquintinib and capecitabine therapy since November 2020, and has been progression-free for >15 months. Grade 2 leukopenia, neutropenia, and thrombocytopenia; grade 1 terminal nerve injury; and grade 1 hand and foot numbness were observed. The second case was a 48-year-old male with advanced colon cancer who underwent laparoscopic sigmoidectomy. Post-surgery, the patient was commenced on fluorouracil and leucovorin (1-cycle), followed by conversion therapy with cetuximab and chemotherapy (6-cycles). The patient underwent left hemi-hepatectomy, partial hepatectomy of the right lobe, and intraoperative radiofrequency ablation, following which he continued to receive cetuximab and chemotherapy. The patient was maintained on oral fruquintinib and capecitabine since December, 2020 and has been progression-free for >14 months. Grade1 myelosuppression, leukopenia, and neutropenia, grade 2 thrombocytopenia were observed.
    UNASSIGNED: This case report based on preliminary evidence advocates oral fruquintinib-capecitabine maintenance treatment as an alternative to bevacizumab-capecitabine standard therapy for CRC patients, especially in the era of COVID-19 epidemic. This scheme can reduce hospitalization and potential COVID-19 contact, and is more convenient than intravenous administration. Which should be further explored in future studies.
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  • 文章类型: Case Reports
    背景:巨大的炎症性息肉病(GIP)是炎症性肠病(IBD)的罕见表现,它被描述为直径1.5厘米或更大的蠕虫状突起,其发病机理尚不清楚。GIP可能与IBD的严重程度有关。GIP表现出广泛的症状,包括腹部痉挛疼痛,贫血,和肠梗阻。GIP的组织病理学是由正常结肠粘膜衬里的息肉,浅表溃疡可能显示轻度隐窝变形。
    方法:我们的病例报告了一名溃疡性结肠炎患者,经结肠镜检查和组织病理学诊断,10个月前由于下消化道出血而出现严重贫血。结肠镜检查显示GIP阻塞了降结肠和乙状结肠,全结肠切除术显示整个结肠充满蠕虫状息肉,最长的息肉可达14厘米。
    结论:在17%的UC伴活动性结肠炎中可见巨大的炎症性息肉病,正如在我们的病人身上看到的,除慢性外,组织病理学成分是急性的,在6个月内形成。根据文献中的数据,报告的自诊断UC后形成的平均持续时间约为3~276个月.长度可达16厘米,乙状结肠是最常见的部位。
    结论:丝状息肉(FP)如果复杂,则需要手术干预,如出血或梗阻,在少数情况下报道。然而,对于复杂的FP,没有明确的手术干预指南,但最安全的方法是根据每种潜在疾病的指南定制管理。
    BACKGROUND: Giant inflammatory polyposis (GIP) is a rare manifestation of inflammatory bowel disease (IBD), and it is described as a worm-like projection of 1.5 cm or more in diameter with unclear pathogenesis. GIP may be related to the severity of IBD. GIP presents with a wide range of symptoms, including crampy abdominal pain, anemia, and intestinal obstruction. The histopathology of GIP is a polyp lined by normal colonic mucosa with superficial ulceration that may show mild crypt distortion.
    METHODS: Our case reports a patient with ulcerative colitis diagnosed via colonoscopy and histopathology 10 months before presenting with severe anemia due to lower gastrointestinal bleeding. Colonoscopy showed GIP obstructing the descending and sigmoid colon, and total colectomy showed the entire colon full of worm-like polyps up to 14 cm the longest polyp.
    CONCLUSIONS: Giant inflammatory polyposis which is seen in 17 % of UC with active colitis, as seen in our patient, the histopathology component was acute in addition to chronic, which formed within 6 months. According to the data in the literature, the average duration reported for formation since diagnosis with UC is approximately 3 to 276 months. With a length up to 16 cm, the sigmoid colon is the most common site.
    CONCLUSIONS: Surgical intervention is indicated for filiform polyposis (FP) if it is complicated, such as bleeding or obstruction, which is reported in a few cases. However, there are no clear guidelines for surgical intervention for complicated FP, but the safest method is to tailor the management according to the guidelines for each underlying disease.
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  • 文章类型: Case Reports
    一名来自中国汉族人群的40岁女性患者出现结直肠癌(CRC)相关症状,包括腹部不适,里急后重和严重的背痛,10月考入安徽医科大学第一附属医学院,2008.她的肿瘤大小为3厘米×3厘米,癌侵入了浆膜层,覆盖3/4的肠管。她在检查后被诊断为III期CRC。经根治性手术及奥沙利铂、淮儿颗粒辅助治疗,预后良好,生存8年以上,一种传统的中药。使用全基因组测序(WGS)数据,我们分析了种系和体细胞突变,并获得了基因组改变的全部数据。在癌症基因组图谱网络(TCGA)中将基因组改变与III期CRC患者进行比较。APC中的突变,TP53,KRAS,在我们的研究中没有记录被定义为TCGA患者的驱动因素的SMAD4、FBXW7和PIK3CA。然而,MUC4,MUC16,ARID1B,BAZ1A,在TCGA患者中很少报道的BRCA2,CTNND1和NCOA2在我们的患者中占主导地位。此外,我们观察到POLE的杂合性丢失(LOH),RET,BMPR1A,与在TCGA患者中记录的缺失和扩增事件相反,NCOA4和30个其他基因。总的来说,我们制作了一个长期存活的CRC患者的基因组突变谱,并鉴定了复发和罕见突变,这些突变可以为进一步研究晚期CRC的特征改变提供有价值的资源,这些改变可能有助于设计个性化药物的临床治疗.
    A 40-year old female patient from the Chinese Han population presented colorectal cancer (CRC) related symptoms including abdominal discomfort, tenesmus and severe back pain, and was admitted to the First Affiliated Anhui Medical University in October, 2008. The size of her tumor was 3 cm × 3 cm, and the carcinoma had invaded the serosa layer, covering 3/4 of the intestine tube. She was diagnosed with stage III CRC after examination. The patient presented a good prognosis with over 8-year survival after curative surgery and adjuvant therapy with Oxaliplatin and Huaier granules, a traditional Chinese medicine. Using the whole-genome sequencing (WGS) data, we profiled the germline and somatic mutations and obtained an all-inclusive data of the genomic alterations. The genomic alterations were compared with those of stage III CRC patients in The Cancer Genome Atlas Network (TCGA). Mutations in APC, TP53, KRAS, SMAD4, FBXW7 and PIK3CA defined as drivers in TCGA patients were not recorded in our study. However, mutations in MUC4, MUC16, ARID1B, BAZ1A, BRCA2, CTNND1 and NCOA2 rarely reported in TCGA patients were predominant in our patient. Additionally, we observed loss of heterozygosity (LOH) in POLE, RET, BMPR1A, NCOA4 and 30 other genes in contrast to deletion and amplification events recorded in TCGA patients. Overall, we produced a genomic mutation profile of a long-term surviving CRC patient and identified recurrent and rare mutations that could provide a valuable resource for further study into the alterations that characterize advanced CRC which may be useful to design clinical therapy for personalized medicine.
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  • 文章类型: Case Reports
    在涉及卡培他滨和过继性细胞转移疗法的联合疗法后,患有IV期结直肠癌(CRC)的患者获得了显着的临床反应。20日行腹腔镜下前切除术,左肝转移癌切除,二月,2017.卡培他滨用于进一步治疗不可切除的肝转移。血清癌胚抗原(CEA)水平暂时下降后明显升高。从那以后,患者同时接受过继性细胞转移治疗。将αβT细胞和NK细胞静脉注射到患者体内。首次输注αβT细胞后,肿瘤生物标志物,CEA,从14.7ng/mL明显下降到6.1ng/mL。经过四次治疗后达到1.9纳克/毫升,回到正常范围(<5ng/mL)。流式细胞术(FCM)用于揭示该患者在过继细胞转移治疗前后的详细免疫状态。经过19个月的随访,没有发现复发或并发症.涉及过继免疫疗法和卡培他滨的联合治疗可能是晚期CRC并发症少的潜在方法。
    Significant clinical response was obtained in a patient with stage IV colorectal cancer (CRC) following combination therapy involving capecitabine and adoptive cell transfer therapy. She had laparoscopic lower anterior resection and left liver metastatic carcinoma resecting in 20th, February, 2017. Capecitabine was used to further treatment for an unresectable hepatic metastasis. The serum level of carcinoembryonic antigen (CEA) was increased significantly after dropped temporarily. Since then, the patient took the adoptive cell transfer therapy at the same time. αβT cells and NK cells were injected intravenously into the patient. After the first transfusion with αβT cells, the tumor biomarker, CEA, dropped obviously from 14.7 to 6.1 ng/mL. And it came to 1.9 ng/mL after four times treatment, which was back into normal range (<5 ng/mL). Flow cytometry (FCM) was used to reveal the detailed immunological status of this patient before and after adoptive cell transfer therapy. With 19-month follow-up, neither recurrence or complication was founded. Combination therapy involving adoptive immunotherapy and capecitabine may be the potential method for advanced CRC with less complication.
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