遗传性非息肉病性结直肠癌家系分析

目的　探讨遗传性非息肉病性结直肠癌在我国的发病遗传规律以及流行病学特点。方法　自 1999年 1月至 2 0 0 2年 12月 ,对天津市人民医院 (原名天津市滨江医院 )收治的 2 92例结直肠癌患者进行家系调查 ,从中筛选出符合以下标准的遗传性非息肉病性结直肠癌家系 3 8个 ,对家系的肿瘤发生率、肿瘤谱和临床特点等进行了分析和总结。诊断标准使用Amsterdam标准Ⅰ、Amsterdam标准Ⅱ (ICG HNPCC)和日本HNPCC诊断标准。结果　 3 8个遗传性非息肉病性结直肠癌家系中共有 14 5例癌症患者 ,其中男性 76例 ,女性 69例 ,男女比例为 1.1∶1。原发性结直肠癌平均诊断年龄为 ( 5 5 .73± 15 .88)岁 ,在所有 99例结直肠癌中 ,左半结肠癌及直肠癌 2 9例 ,占 2 9.3 % ;右半结肠癌 70例 ,占 70 .7% ,右半结肠癌占有绝对的优势 ;异时性多发性原发结直肠癌患者占大肠癌患者的 13 .1% ( 13 /99) ;HNPCC相关肿瘤共 46例其发生率由高到低前三位是 :子宫内膜癌 9例 ( 19.6% )、乳腺癌 7例 ( 15 .2 % )、肺癌、胃癌各 6例 ( 13 .0 % ) ;在男女性共患癌中 ,除胰腺癌、纵隔癌外 ,男性发生率均高于女性 ;第一代、第二代以及第三代患者的平均诊断年龄有逐渐年轻化的趋势 ,并具有统计学意义。结论　我国遗传性非息肉病性结直肠癌很可能     

钙调蛋白结合蛋白在子宫平滑肌肿瘤诊断中的意义

目的　探讨高度敏感和特异的诊断子宫平滑肌肿瘤的指标。方法　选取子宫内膜间质肉瘤 2 6例 ,子宫普通型和富于细胞性平滑肌瘤各 2 5例 ,子宫平滑肌肉瘤 17例 ,正常子宫肌层和正常子宫内膜各 2 5例 ,采用免疫组化 S-P法检测各种组织中结蛋白、平滑肌肌动蛋白、雌激素受体以及重型钙调蛋白结合蛋白 (h-caldesmon)的表达。结果　正常的子宫肌层、子宫普通型平滑肌瘤、富于细胞性平滑肌瘤和子宫平滑肌肉瘤中重型钙调蛋白结合蛋白的表达分别为 10 0 .0 %、10 0 .0 %、96.0 %和 64.7% ,但正常子宫内膜和子宫内膜间质肉瘤细胞中均未见其表达。重型钙调蛋白结合蛋白诊断富于细胞性平滑肌瘤不仅敏感度高于结蛋白 ,而且特异度达 10 0 .0 %。结论　重型钙调蛋白结合蛋白可辅助正确鉴别子宫富于细胞性平滑肌瘤和子宫内膜间质肉瘤     

遗传性非息肉病性大肠癌(10个家族27例报告)

分析遗传性非息肉病性大肠癌(HNPCC)的临床特点。方法:对10个家族27例HNPCC患者(A组)进行回顾性分析,并设30例一般大肠癌为对照组(B组)进行比较。结果:<50岁患者A组占59.3%(16/27),B组占23.3%(7/30),P<0.05。脾曲以上癌灶A组为40.0%(12/30),B组为16.1%(5/31),P<0.05。大肠多原发癌A组占10.0%(3/30),B组占3.2%(1/31)。大肠外肿瘤A组6例,B组2例。结论:HNPCC具有典型的临床特征,这些特征可以对HNPCC患者进行早期诊断及治疗,以得到较好的预后。     

转移性癌细胞体外水解酶表达及影响因素的作用

目的　为阐明树突状细胞肉瘤 (DCS)细胞在体外培养条件下其水解酶表达的类型及一些影响因素的作用。方法　采用水解空斑法检测 10种特异性蛋白酶抑制剂、不同抗体及基质对 DCS细胞的体外蛋白水解作用的影响。结果　抑肽酶 (aprotinin)、乙二胺四乙酸钠 (EDTA- Na2 )、抑胃酶 ((pepstatin)可显著抑制 DCS细胞的蛋白水解作用。抗泛素抗体、抗 DCS抗体对 DCS的蛋白水解作用无明显影响。在纤粘连蛋白 (FN)、层粘连蛋白 (L N)基质上 DCS细胞铺展良好 ,蛋白水解作用不明显。结论　本实验条件下 ,DCS细胞可表达丝氨酸蛋白酶、金属蛋白酶(非基质水解酶 )、天门冬氨酸蛋白酶的活性。抗泛素抗体、抗 DCS抗体对 DCS细胞的蛋白水解作用无明显影响。不同基质上 DCS细胞水解酶表达状态不同     

与人类免疫缺陷病毒相关性耳鼻咽喉部卡波济肉瘤21例报告

报告２１例与人类免疫缺陷病毒（ＨＩＶ）相关性耳鼻咽喉部卡波济肉瘤，其主要局部表现是鼻出血、鼻塞、咽喉干燥、异物感及结节状新生物，并对ＨＩＶ感染与卡波济肉瘤的关系、病例特点及诊断依据进行讨论。     

Osteosarcoma of the Head and Neck: Meta-analysis of Nonrandomized Studies

To assess the role of adjuvant therapy in the treatment of osteogenic sarcoma of the head and neck, treatment and survival information from 173 patients with osteosarcoma of the head and neck was entered into a database. A meta-analysis of the data was attempted with primary emphasis on the effect of adjuvant therapy on disease outcome. The overall 5-year survival was 37%. Patients with mandibular and maxillary tumors had similar survival rates; both groups fared significantly better than patients with extragnathic tumors (P<0.001). Treatment with surgery alone was associated with significantly longer survival rates (P<0.03) than surgery with adjuvant therapy. In the majority of patients reported, information about surgical margins was not available. For this reason, the differences may not adequately represent the effect of adjuvant therapy. While there have been encouraging results with adjuvant treatment protocols for long bone osteosarcoma, the ultimate role of radiation and chemotherapy in the management of osteosarcoma of the head and neck remains unproven. Nevertheless, we recommend that adjuvant therapy be considered due to the poor prognosis in osteosarcoma of the head and neck.     

Molecular Genetics in the Diagnosis and Prognosis of Solid Pediatric Tumors

The field of molecular genetics continues to see an ever increasing number of applications to pediatric tumor analysis. Studies in pediatric tumors have identified novel genes and other genetic changes, a large number of which reflect one of the following mechanisms: (1) activation of proto-oncogenes; (2) loss of tumor suppressor genes; or (3) creation of novel fusion proteins. At least one of these mechanisms is operational in each of the following pediatric tumors: neuroblastoma, Ewing sarcoma and peripheral primitive neuroectodermal tumor (pPNET), intra-abdominal desmoplastic small-cell tumor, rhabdomyosarcoma, synovial sarcoma, and Wilms tumor. Out of this research has come not only an increased understanding of oncogenesis but also, for each of the tumors listed above, diagnostic and/or prognostic markers that can be used by the pathologist and oncologist to improve overall patient management. Received November 20, 1997; accepted April 20, 1998.     

Synovial sarcoma in childhood: Clinical and radiological findings

Objective: To study the clinical characteristics andradiological features of synovial sarcoma in childhood and its relation to the diagnosis and treatment. Methods: The clinical radiological features of 15 children with synovial sarcoma proved surgically and pathologically were analyzed. Results: In children, the tumor boundaries are poorly defined due to paucity of fat, and metastasis usually occurs early. Eight patients in this series had bone involvement, including: direct erosion by tumor causing cortical destruction, indirect pressure defect with sharp margin and reactive bone sclerosis and bone destruction of the primary intraosseous synovial sarcoma. Conclusion: The tumor is often misdiagnosed, the final confirmed diagnosis must be made by histological examination with imaging findings. It is emphasized that the patients should be treated with radiotherapy and chemotherapy preoperatively and postoperatively.     

Ewing肉瘤诊断与治疗的体会（附9例报告）

Ewing肉瘤(尤文肉瘤)是骨科少见的一种高度恶性低分化的小圆细胞原发骨肿瘤。对青少年的危害极大,目前在诊断与治疗上存在不少问题,在治疗方法上有颇多争议。本文通过9例Ewing肉瘤的诊治提出了长管状骨及扁平骨Ewing肉瘤的特征及诊断方法。减少了误诊率;同时对其治疗提出术前全身化疗、术中局部化疗、术后化疗加放疗的综合治疗方案,以减少肿瘤复发及转移机率,为保存患肢功能,提高病人5年存活率,我们认为这是一种治疗Ew-ing氏肉瘤的有效方案。