Diagnosis, treatment, and current concepts in the endoscopic management of gastroenteropancreatic neuroendocrine neoplasms

Gastroenteropancreatic neuroendocrine neoplasms(GEP-NENs)are rare tumors derived from the neuroendocrine cell system,which that have increased in incidence and prevalence in recent years.Despite improvements in radiological and metabolic imaging,endoscopy still plays a pivotal role in the number of GEPNENs.Tumor detection,characterization,and staging are essential in management and treatment planning.Upper and lower gastrointestinal(GI)endoscopy is essential for correct localization of the primary tumor site of GI NENs.Endoscopic ultrasonography(EUS)has an important role in the imaging and tissue acquisition of pancreatic NENs and locoregional staging of GI neuroendocrine tumors.Correct staging and histological diagnosis have important prognostic implications.Endoscopic operating techniques allow the removal of small GI NENs in the early stage of mucosal or submucosal invasion of the intestinal wall.Preoperative EUS-guided techniques may help the surgeon locate small and deep tumors,thus avoiding formal pancreatic resections in favor of parenchymal-sparing surgery.Finally,locoregional ablative treatments have been proposed in recent studies with promising results in selected patients.

Engineering of ovarian tissue for ovarian dysfunctions:A review

This review explores tissue engineering as a potential solution for reproductive health issues in women caused by genetic or acquired diseases,such as premature ovarian failure or oophorectomy.The loss of ovarian function can lead to infertility,osteoporosis,and cardiovascular disease.Hormone replacement therapy is a common treatment,but it has limitations and risks.The review focuses on two main approaches in tissue engineering:scaffold-based(3D printing,electrospinning,decellularization)and scaffold-free(stem cell transplantation,organoid cultivation).Both approaches show promise in preclinical studies for creating functional ovarian tissue.Challenges include vascularization,innervation,long-term function,and safety.Despite these challenges,tissue engineering offers a potential avenue for restoring fertility and hormone balance in women with ovarian dysfunction.

儿童胃肠道炎性肌纤维母细胞瘤的诊断与治疗

目的总结儿童胃肠道炎性肌纤维母细胞瘤(inflammatory myofibroblastic tumor,IMT)的临床特征及诊治经验。方法回顾性分析湖南省儿童医院普外科2010年1月至2021年12月收治的11例胃肠道IMT患儿临床资料,男7例,女4例;发病年龄8个月至15岁,收集患儿临床特点、影像学检查、病理学诊断、外科治疗及随访情况等。结果11例主要以腹痛、呕吐、发热、血便及腹部肿物就诊。10例行一期手术完整切除肿瘤,其中1例术后予化疗;1例经活检确诊后未予手术,仅行化疗。11例均病理诊断明确,均获随访(随访时间6~60个月),其中9例治愈,2例带瘤生存(1例于术后2年复发)。结论儿童胃肠道IMT临床少见,手术是首选治疗方法。复发、难治性IMT的治疗亟待进一步积累经验。

克氏原螯虾PcCRCN-L基因的克隆鉴定及在低氧胁迫下的表达响应

虾青蛋白(Crustacyanin,CRCN)在甲壳动物脂类代谢及低氧胁迫应激调控等方面具有重要的功能。为获取虾青蛋白在克氏原螯虾(Procambarus clarkii)性腺发育和低氧胁迫应答中的作用,本研究在克氏原螯虾肝胰腺组织中鉴定出1个类虾青蛋白PcCRCN-L基因的c DNA序列,分析了PcCRCN-L基因的结构特征和进化模式,研究了PcCRCN-L基因在不同组织与性腺不同发育时期的表达特征,探讨了Pc CRCN-L在低氧–复氧胁迫下的表达响应模式。结果显示,PcCRCN-L基因c DNA序列长2700 bp,其开放阅读框(ORF)长度为1587 bp,编码528个氨基酸残基;DNA序列长6130 bp,位于克氏原螯虾基因组的第12号染色体,包含5个外显子和4个内含子,内含子/外显子剪接方式符合GT-AG规则。Pc CRCN-L具有1个完整的lipocalin结构域,包含典型的序列保守区Ⅰ(SCR1)序列G-X-W、保守区Ⅱ(SCR2)序列T-D-Y和保守区Ⅲ(SCR3)序列精氨酸R。多序列比对与系统进化分析结果显示,PcCRCN-L独立于传统虾青蛋白A和C亚族,单独聚为一支。Pc CRCN-L在克氏原螯虾多个组织中均有表达,在肝胰腺中表达量最高;在性腺不同发育时期,肝胰腺以及卵巢组织中的Pc CRCN-L基因表达量显著降低;低氧胁迫下,肝胰腺组织中Pc CRCN-L表达量显著降低,复氧后显著升高。研究结果表明,PcCRCN-L与克氏原螯虾性腺发育密切相关,并参与了克氏原螯虾的低氧–复氧胁迫应激调控。

外阴巨大血管肌纤维母细胞瘤磁共振成像误诊为脂肪肉瘤一例

外阴血管肌纤维母细胞瘤(angiomyofibroblastoma,AMF)是一种育龄期女性罕见的良性肿瘤,起源于女性的外阴或阴道。脂肪肉瘤好发于围绝经期及绝经后女性的躯干、四肢等部位。报道1例外阴巨大AMF磁共振成像(magnetic resonance imaging,MRI)误诊为脂肪肉瘤的病例,该患者因发现外阴肿物3年,增大1年入院,术前MRI诊断为脂肪肉瘤,而术前活检诊断为AMF,行外阴肿物切除术+外阴成形术,术后病理检查诊断AMF,术后随访9个月未见复发。临床医生应加强疾病的鉴别诊断,通过结合术前组织病理学及其相关影像学检查可提高AMF的诊断准确率,为临床提供准确的手术指导信息。

MRI鉴别诊断卵巢颗粒细胞瘤与卵泡膜纤维瘤

目的观察MRI鉴别诊断卵巢颗粒细胞瘤(OGCT)与卵泡膜纤维瘤(OTF)的价值。方法回顾性分析37例OGCT(OGCT组)与74例OTF(OTF组)女性,比较其MRI参数;行多因素logistic回归分析,观察各参数单独及联合鉴别诊断OGCT与OTF的效能。结果组间病灶囊实性分型,囊变程度、囊区最大径,实性部分T2WI信号、强化程度、表观弥散系数(ADC),以及是否合并蜂窝征/奶酪征、有无肿瘤内血管及出血差异均有统计学意义(P均<0.05)。其中,囊变程度、ADC及是否合并蜂窝征/奶酪征为MRI鉴别OGCT与OTF的影响因素,其鉴别OGCT与OTF的曲线下面积(AUC)分别为0.834、0.868及0.744,而三者联合的AUC为0.934,大于其单一AUC(P均<0.05)。结论病灶囊变程度、实性部分ADC及是否合并蜂窝征/奶酪征等MRI特征有助于鉴别OGCT与OTF。

Management of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene

AIM To identify the clinical features of gastric mucosaassociated lymphoid tissue(MALT) lymphoma with extra copies of MALT1.METHODS This is a multi-centered,retrospective study. We reviewed 146 patients with MALT lymphoma in the stomach who underwent fluorescence in situ hybridization analysis for t(11;18) translocation. Patients were subdivided into patients without t(11;18) translocation or extra copies of MALT1(Group A,n = 88),patients with t(11;18) translocation(Group B,n = 27),and patients with extra copies of MALT1(Group C,n = 31). The clinical background,treatment,and outcomes of each group were investigated.RESULTS Groups A and C showed slight female predominance,whereas Group B showed slight male predominance. Mean ages and clinical stages at lymphoma diagnosis were not different between groups. Complete response was obtained in 61 patients in Group A(69.3%),22 in Group B(81.5%),and 21 in Group C(67.7%). Helicobacter pylori(H. pylori) eradication alone resulted in complete remission in 44 patients in Group A and 13 in Group C. In Group B,14 patients underwent radiotherapy alone,which resulted in lymphoma disappearance. Although the difference was not statistically significant,event-free survival in Group C tended to be inferior to that in Group A(P = 0.10).CONCLUSION Patients with t(11;18) translocation should be treated differently from others. Patients with extra copies of MALT1 could be initially treated with H. pylori eradication,similar to patients without t(11;18) translocation or extra copies of MALT1.

乳腺MRI诊断左前胸壁低度恶性肌成纤维细胞性肉瘤1例

女,33岁,发现“左乳肿块”伴左前胸壁针刺样疼痛4月余、月经时加重;既往体健。查体:于左乳区触及6.0 cm×4.0 cm×6.0 cm肿物,质硬,活动度差,有轻压痛;左乳外上象限皮肤呈“酒窝征”。乳腺MRI:左侧胸大肌内4.1 cm×2.5 cm×4.9 cm不规则肿块,脂肪抑制T1WI和T2WI分别呈等及稍高信号(图1A)、弥散加权成像(diffusion weighted imaging,DWI)(b=1000 s/mm^(2))呈高信号(图1B)、表观弥散系数(apparent diffusion coefficient,ADC)图呈低信号(图1C);增强T1WI见肿块不均匀明显强化(图1D),周围血管纠集,时间-信号强度曲线呈平台型。MRI诊断:左胸大肌间叶组织来源恶性占位。

Personalising pancreas cancer treatment:When tissue is the issue

The treatment of advanced pancreatic cancer has not moved much beyond single agent gemcitabine until recently when protocols such as FOLFIRINOX(fluorouracil,leucovorin,irinotecan and oxaliplatin)and nab-paclitaxelgemcitabine have demonstrated some improved outcomes.Advances in technology especially in massively parallel genome sequencing has progressed our understanding of the biology of pancreatic cancer especially the candidate signalling pathways that are involved in tumourogenesis and disease course.This has allowed identification of potentially actionable mutations that may be targeted by new biological agents.The heterogeneity of pancreatic cancer makes tumour tissue collection important with the aim of being able to personalise therapies for the individual as opposed to a one size fits all approach to treatment of the condition.This paper reviews the developments in this area of translational research and the ongoing clinical studies that will attempt to move this into the everyday oncology practice.

颅内脉管瘤1例

患者女,57岁,间断头痛头晕半月余、加重4天;高血压病史30余年,未规律服药及监测,无外伤、手术史及特殊家族病史。查体:血压145/95mmHg,痛苦面容,未见其他明显异常。实验室检查未见明显异常。颅脑MRI:左侧小脑5.5cm×5.2cm×3.8cm囊实性占位,局部边界清晰,内见分隔,实性部分呈T1WI稍低信号、T2WI等-低信号,囊性部分呈T1WI低信号、T2WI高信号(图1A、1B),弥散加权成像(diffusion weighted imaging,DWI)实性部分及囊壁见局部点状高信号;增强后实性部分呈结节状强化,囊性部分无强化,其内分隔及囊壁呈轻度强化(图1C);病灶邻近脑组织水肿,第四脑室及脑干受压。

Expression of splice variants of CD44 in tumor－adjacent tissue of human primary liver cancer

ＥｘｐｒｅｓｓｉｏｎｏｆｓｐｌｉｃｅｖａｒｉａｎｔｓｏｆＣＤ４４ｉｎｔｕｍｏｒ－ａｄｊａｃｅｎｔｔｉｓｓｕｅｏｆｈｕｍａｎｐｒｉｍａｒｙｌｉｖｅｒｃａｎｃｅｒ￥（刘鹏飞）（吴孟超）（陈汉）（钱光相）（傅继梁）ＬｉｕＰｅｎｇｆｅｉ；ＷｕＭｅｎｇｃｈａｏ...

Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue

BACKGROUND DNA mutational analysis of pancreatic cystic fluid (CF) is a useful adjunct to the evaluation of pancreatic cysts. KRAS/GNAS or RAF/PTPRD/CTNNB1/RNF43 mutations are highly specific to precancerous or advanced neoplasia. Several studies recently demonstrated the ability of next-generation sequencing (NGS)analysis to detect DNA mutations in pancreatic CF, but few studies have performed a systematic comparative analysis between pancreatic CF and neoplastic surgical tissue (NT). The value of CF-NGS analysis indicators for determining surgical resection necessitates evaluation. AIM To confirm whether CF genomic profiles are a reliable malignancy predictor by comparing NGS mutational analyses of CF and NT. METHODS Patients requiring surgery for high-risk pancreatic cysts were included in a multicenter prospective pilot study. DNA from CF (collected by endoscopic ultrasound-guided fine needle aspiration (known as EUS-FNA)) and NT (collected by surgery) were analyzed by NGS. The primary objective was to compare the mutation profiles of paired DNA samples. The secondary objective was to correlate the presence of specific mutations (KRAS/GNAS, RAF/ PTPRD/CTNNB1/RNF43/POLD1/TP53) with a final cancer diagnosis. Sensitivity and specificity were also evaluated. RESULTS Between December 2016 and October 2017, 20 patients were included in this pilot study. Surgery was delayed for 3 patients. Concordant CF-NT genotypes were found in 15/17 paired DNA, with a higher proportion of mutated alleles in CF than in NT. NGS was possible for all pancreatic CF collected by EUS-FNA. In 2 cases, the presence of a KRAS/GNAS mutation was discordant between CF and NT. No mutations were found in 3 patients with NT or pancreatic cysts with high-grade dysplasia. The sensitivity and specificity of KRAS/GNAS mutations in CF to predict an appropriate indication for surgical resection were 0.78 and 0.62, respectively. The sensitivity and specificity of RAF/PTPRD/CTNNB1 /RNF43/POLD1/TP53 mutations in CF were 0.55 and 1.0, respectively. CONCLUSION Mutational analyses of CF and NT were highly concordant, confirming the value of NGS analysis of CF in the preoperative malignancy assessment. However, these results need to be confirmed on a larger scale.

ADVANTAGES AND APPLICATIONS OF TISSUE MICROARRAY TECHNOLOGY ON CANCER RESEARCH

S To provide evidences for exploiting tissue microarray (TMA) technology, we reviewed advantages and applications of TMA on tumor research. TMA has many advantages, including (1) section from TMA blocks can be utilized for the simultaneous analysis of up to 1,000 different tumors at DNA, RNA or protein level; (2) TMA is highly representative of their donor tissues; (3) TMA can improve conservation of tissue resources and experimental reagents, improve internal experimental control, and increase sample numbers per experiment, and can be used for large-scale, massively parallel in situ analysis; (4) TMA facilitates rapid translation of molecular discoveries to clinical applications. TMA has been applied to tumor research, such as glioma, breast tumor, lung cancer and so on. The development of novel biochip technologies has opened up new possibilities for the high-throughput molecular profiling of human tumors. Novel molecular markers emerging from high-throughput expression surveys could be analyzed on tumor TMA. It is anticipated that TMA, a new member of biochip, will soon become a widely used tool for all types of tissue-based research. TMA will lead to a significant acceleration of the transition of basic research findings into clinical applications.

Significance and expression of Bax, Survivin and p53 in gastric carcinoma and precancerous lesions using tissue microarray

Objective: To explore the relationship between expressions of apoptosis-related protein Bax, Survivin and p53 and the molecular mechanisms of carcinogenesis and progression of gastric carcinoma. Methods: Tissue microarray and immunohistochemistry were used in this study. Results: The positive rate of Bax protein in gastric cancer (17.7%,17/96) was significantly lower than those in adjacent normal mucosa (51%), intestinal metaplasia (69.2%) and dysplasia (75%), P < 0.01. The positive rate of Survivin expression in gastric cancer (80.6%, 89/98) was significantly higher than that in adjacent normal mucosa (3.9%), P < 0.01. The positive rates of Survivin expression in tumors with different organ metastases (in lymph node metastasis 86.2%, liver 100% and ovarian 100%) were statistically higher than in tumors without metastasis (64.3%), P < 0.05. Bax expression was correlated with Survivin but not with mp53 that was closely related to Survivin expression (P < 0.05) in gastric cancer. Conclusion: The abnormal expressions of Bax, Survivin and mp53 were correlated with the tumorigenesis and progression of gastric carcinoma. P53 and Survivin genes may share the similar mechanism in regulating cell apoptosis, and because of the mutation, p53 gene may lower its down-regulation to Survivin expression.

Magnetic resonance imaging of soft-tissue tumors of the extremities: A practical approach

Diagnosis of extremity soft-tissue tumors can be challenging.Characteristics of tumor margins can help precisely identify locally aggressive or non-aggressive behavior for surgical planning,but cannot differentiate benign from malignant lesions.Most malignant tumors can have inhomogeneous signals on T2-weighted images.Although a uniform signal on T2-weighted images can be a reliable indication of a benign lesion,a well-defined mass with homogeneous internal signal intensity does not definitively identify a benign lesion.Some common and distinctive soft-tissue lesions can have specific clinical and imaging features allowing a diagnosis without biopsy.These are known as determinate lesions.This illustrative report presents a diagnostic guide for extremity soft-tissue tumors based on tissue signal and morphological characteristics on magnetic resonance images.It is important for clinicians to be familiar with the imaging characteristics of common determinate lesions.

Soft tissue aneurysmal bone cyst of the mandible:Report of a case

We report the case of a 17-year-old boy with a soft tissue aneurysmal bone cyst(STABC) located in the posterior aspect of the right mandible.Conventional radiography revealed no positive findings.On the computed tomography scan,the lesion appeared to have a nonuniform intralesional density.Magnetic resonance imaging revealed an abnormal soft tissue masses with cystic component in the superficial part of right mandibular body and angle with intact cortex.Following histopathological examination,fibro-histiocytic proliferation,blood-filled spaces and multinucleated giant cells were seen and the lesion was diagnosed as a STABC.The mass together with underlying bone and periosteum on its periphery was surgically resected under general anesthesia.Thirty-six months after surgery the patient was assessed at outpatient clinic and found no sign of recurrence This may be only the first reported case of the mandible in the English literature of this extremely rare benign tumor occurring in soft tissue.

The Physical and Clinical Aspects of Radiation Therapy in Skin Cancer and Subcutaneous Tissue Neoplasm

Cancers, malignant melanoma and sarcomas of the skin represent the most common group of malignancies in humans. The main treatment method of almost all skin cancers and subcutaneous tissue tumours is surgery, which consists of complete removal of a neoplastic lesion, with an adequate margin of healthy tissue. Radiotherapy plays an adjuvant role in this process, meaning complementing of the surgical procedure. This study compared four methods of irradiation treatment of cancer located in the skin or in subcutaneous tissues: contact brachytherapy, conventional orthovoltage therapy, electron beam conformal teleradiotherapy and IMRT dynamically shaped photonic beams conformal teleradiotherapy. In order to compare the methods and techniques of surface radiotherapy, following specific objectives were formulated. At the beginning in order to compare the scopes of the absorbed doses at different tissue depths, an analysis of parameters describing particular beams or radiation source has been performed—the curves for the absorbed-dose depth drop-offs. Doses distribution in tissue-like phantoms stimulating homogeneous cuboidal tissue block has been determined. A quality comparison of dose distribution in 2D and 3D treatment planning system for contact brachytherapy application has been made. The dose distribution for electron beam in the system has been determined. Conformal plannings for electron beam treatment, contact brachytherapy applicator treatment and 4 photon beams treatment optimized in IMRT technology have been performed. Dose distribution has been performed for the irradiated female patient within the well chest—the target included the recurrence area in the post-operative scar. The radiation therapy with X-rays has actually been completely eliminated from skin cancer and subcutaneous tissue radiotherapy by the electrons generated in linear accelerators, contact brachytherapy HDR and by high-energy photons used in conformal techniques, ex. IMRT. It is because the residual dose beyond the target is the highest for single X-ray beam. Although in brachytherapy HDR a rapid dose drop-off is observed, 5 cm from its normalization level for the target the residual radiation remains at the level of several percent. So, both X-rays beam radiation and brachytherapy in skin cancer treatment is connected with the administration of the dose with a high gradient in the health tissues. The dose distribution for photon conformal techniques IMRT or for electron radiation looks different. There with the dose normalization at the level of 90% or 85% we deal with the dose layer, the division does not exceed 15% of heterogeneity.

LINC00657对结直肠癌细胞恶性行为影响及机制

目的探讨长链非编码RNA(lncRNA)LINC00657通过调控miR-26b及其靶基因黏膜相关组织淋巴瘤异位基因1(MALT1)对结直肠癌(CRC)细胞增殖、侵袭和迁移的影响。方法用逆转录-聚合酶链反应(RT-PCR)检测正常肠上皮细胞(NCM460)、CRC细胞系(HT29、HCT116和SW620)中LINC00657的表达水平。对HT29细胞转染shRNA-LINC00657或shRNA-CON,分析沉默LINC00657对癌细胞增殖、侵袭和迁移的影响。用双荧光素酶报告基因验证LINC00657、miR-26b和MALT1的靶向作用关系。对HT29细胞分别仅转染shRNA-LINC00657、同时转染shRNA-LINC00657+miR-26b inhibitor、同时转染shRNA-LINC00657+pcDNA-MALT1,分析LINC00657通过miR-26b/MALT1轴对细胞增殖、侵袭和迁移的影响。采用CCK-8法检测细胞增殖能力,通过Transwell实验检测细胞侵袭和迁移能力。应用RT-PCR检测MALT1 mRNA表达水平,Western blot检测MALT1蛋白的表达水平。结果CRC细胞系(HT29、HCT116和SW620)的LINC00657表达水平均高于正常肠上皮细胞(NCM460),差异有统计学意义(F=30.267,P<0.05)。沉默LINC00657可以抑制HT29细胞的增殖、侵袭和迁移(t=9.123~18.456,P<0.05)。双荧光素酶报告基因检测证实,LINC00657靶向作用于miR-26b并下调其表达,miR-26b可负调控MALT1的表达。沉默LINC00657表达可抑制HT29细胞中MALT1 mRNA和蛋白的表达水平(F=15.893、17.231,P<0.05)。转染shRNA-LINC00657+miR-26b-inhibitor或shRNA-LINC00657+MALT1过表达载体以后,MALT1 mRNA和蛋白的表达水平较仅转染shRNA-LINC00657明显上调(F=15.893、17.231,P<0.05),细胞增殖、侵袭和迁移能力也升高(F=4.783~8.893,P<0.05)。结论LINC00657在CRC细胞中高表达,可通过调控miR-26b/MALT1轴促进癌细胞增殖、侵袭以及迁移。

Reconstruction surgery in head and neck cancer patients amidst the COVID-19 pandemic:Current practice and lessons for the future

The coronavirus disease 2019(COVID-19)pandemic has imposed a radical change in daily life and work routine.In this context,health systems have suffered important and serious repercussions in all fields.Among the changes brought about by the state of global health emergency,adjustments to guidelines,priorities,structures,professional teams,and epidemiological data stand out.In light of this,the oncological field has witnessed several changes in the approach to cancer,whether due to delay in diagnosis,screening deficit,personnel shortage or the psychological impact that the pandemic has had on cancer patients.This article focuses on the management of oral carcinoma and the surgical approaches that oral and maxillofacial specialists have had at their disposal during the health emergency.In this period,the oral and maxillofacial surgeons have faced many obstacles.The proximity of maxillofacial structures to the airways,the need of elective and punctual procedures in cancerous lesions,the aggressiveness of head and neck tumors,and the need for important healthcare costs to support such delicate surgeries are examples of some of the challenges imposed for this field.One of the possible surgical'solutions'to the difficulties in managing surgical cases of oral carcinoma during the pandemic is locoregional flaps,which in the pre-COVID-19 era were less used than free flaps.However,during the health emergency,its use has been widely reassessed.This setback may represent a precedent for opening up new reflections.In the course of a long-term pandemic,a reassessment of the validity of different medical and surgical therapeutic approaches should be considered.Finally,given that the pandemic has highlighted vulnerabilities and shortcomings in a number of ways,including the issues of essential resource shortages,underinvestment in public health services,lack of coordination and versatility among politicians,policymakers and health leaders,resulting in overloaded health systems,rapid case development,and high mortality,a more careful analysis of the changes needed in different health systems to satisfactorily face future emergencies is essential to be carried out.This should be directed especially towards improving the management of health systems,their coordination as well as reviewing related practices,even in the surgical field.

甲状腺乳头状癌术前FNAC和术后石蜡组织BRAF V600E检测应用比较

目的 探讨甲状腺乳头状癌术前细针穿刺细胞学(fine-needle aspiration cytology, FNAC)和术后石蜡组织BRAF V600E突变检测的差异及应用价值。方法 应用免疫组化和qRT-PCR检测143例甲状腺乳头状癌石蜡标本BRAF V600E突变,以测序为金标准,比较两种技术检测BRAF V600E的差异。回顾分析265例甲状腺乳头状癌术前FNAC和术后石蜡组织采用qRT-PCR检测BRAF V600E,比较同一组织不同获取方式对BRAF V600E突变检出率的影响。结果 143例甲状腺乳头状癌石蜡标本检测BRAF V600E,免疫组化特异度为85.45%(47/55)、阳性预测值为91.67%(88/96)、准确率为94.41%(135/143)、假阳性率为14.55%(8/55)。qRT-PCR特异度为98.19%(54/55)、阳性预测值为98.88%(88/89)、准确率为99.30%(142/143)、假阳性率为1.8%(1/55)。经配对χ2检验,比较两种方法检测的差异,其特异度、阳性预测值、准确率、假阳性率差异有显著性(P<0.000 01)。另外,265例甲状腺乳头状癌患者术前FNAC BRAF V600E突变检出率为69.81%(185/265),术后石蜡组织BRAF V600E突变检出率为76.98%(204/265)。经配对χ2检验,术前FNAC和术后石蜡组织BRAF V600E突变检出率差异有统计学意义(P<0.000 01)。结论 甲状腺乳头状癌采用qRT-PCR检测BRAF V600E突变优于免疫组化;术后石蜡组织BRAF V600E突变检出率明显高于术前FNAC标本,甲状腺乳头状癌术前FNAC检测BRAF V600E阴性的病例,建议术后石蜡组织复检BRAF V600E突变状态。