中枢神经系统家族性血管网状细胞瘤研究进展

家族性血管网状细胞瘤(familial hemangioblastoma,FHB),是一种具有家族遗传背景的常染色体显性遗传病[1],属于Von Hippel-Lindau(VHL)病范畴[2],而中枢神经系统FHB是VHL病最常见的特征之一。由于本病具有家族遗传性且全身受累器官较多,导致本病临床表现及诊断治疗等呈现多样性及特异性。笔者就目前国内外中枢神经系统FHB的临床特征、影像学表现、诊断及治疗方面研究的新进展进行系统的分析和综述。     

着色性干皮病—上唇疣状角化伴高度不典型增生1例

患者男性 ,10岁 ,发现左上唇肿块 1月。初时绿豆大 ,无疼痛 ,搔抓后破溃出血 ,逐渐增大。自 1岁起面部及手背出现雀斑 ,缓慢加重并伴有皮肤干燥。体检 :发育一般 ;双眼结膜充血 ,血管纹理不清 ;面部、两手背及手臂见色素沉着斑 ,黑白交替 ,伴少量脱屑 ;右上唇见一半球形皮损 ,直径约 1 5ｃｍ ,表面疣状增生 ,血痂附着 ,质地中等 ,无压痛。口腔科行病变切除术 ,并予尿素脂、樟脑霜外用。出院至今存活良好 ,期间未再发现皮肤新生物。病理检查 :送检灰白色组织 2ｃｍ× 1 5ｃｍ× 1ｃｍ ,表面较粗糙。镜检 :鳞状上皮疣状增生 ,过度角化 ,表皮基…     

原发性心包间皮瘤：附4例报告

本文报告4例原发性心包间皮瘤。本病可分为局限型和弥漫型。临床表现为1.无炎症疾病的血性心包积液;2.胸痛;3.无明显诱因的心力衰竭,尤其伴有肝肿大,腹水和水肿者;4.心包液找到恶性间皮细胞,其染色体核型分析呈肿瘤型;5.超声心动图可见心包腔内肿块。6.心包注气造影显示心底部肿块,心脏轮廓呈怪异型。     

遗传性多发性骨软骨瘤前臂畸形手术治疗的研究进展

<正>遗传性多发性骨软骨瘤(hereditary multiple exostoses,HME),又叫骨干续连症、遗传性多发性外生骨疣等,是一种以长骨干骺端出现多个良性软骨帽肿瘤为特征的常染色体显性遗传病^[1]。目前认为HME主要是由于ETX1和EXT2基因发生突变引起^[2]。本病若不及时干预,会导致畸形的进一步加重^[3]。受限于当前治疗的手段,本病部分患者需要且仅能进行手术治疗。     

着色性干皮病恶变综合治疗

目的　分析着色性干皮病 (XerodermaPigmentoss ,XP) 7例综合治疗效果。方法　 1968～ 2 0 0 0年XP 7例 ,根据拟订临床分期的原则 ,采用灵活的中西医药结合治疗方法。结果　全组完全缓解 (CR 7/7例 )率 10 0 %。结论　山东产中草药农吉利 +化疗、放疗、手术的缓解效果优于任何单一疗法 ,手术 +放疗对于XP有起效快、维持时间长的肯定疗效 ,但对于多部位、多趋势恶变的治疗 ,需要中西医药综合治疗 ,发挥其取长补短的优点 ,才能取得较好的疗效     

放射治疗着色性干皮病并发皮肤鳞癌1例

着色性干皮病（XerodermaPigmentosum，XP）是一种少见的常染色体性遗传性疾病，我院１９９８年收治１例，报告如下。患者，男性，１６岁。因面部节结状肿物及双眼视力下降１年就诊。患者自出生后不久发现面颈及背部逐渐出现褐色斑点，并随年龄的增大而斑点增多，皮肤颜色加深。一些斑点融合成片，日晒后加重。１９９６年初发现左侧鼻翼、左眼睑出现结节，且逐渐增大，继之左眼失明。自１９９７年下半年开始，面部肿物生长迅速，于１９９８年５月来我院就诊。父母为姑表兄妹近亲结婚。患者一弟弟同患此病于２年前死亡。体格检查：发育欠佳…     

着色性干皮病癌变临床分析

目的　了解着色性干皮病的发病规律以及治疗方法。方法　对我院 195 8年至 2 0 0 0年共收治的 7例着色性干皮病癌变进行回顾分析。结果　发现着色性干皮病癌变发生较早 ,大多数患者 2 0岁之前即进入肿瘤期 ,治疗方法仍在探索中 ,但以综合治疗为主。结论　对该病癌前皮肤病的治疗仍应遵循早期发现、早期诊断、早期治疗的原则。对已癌变者 ,应根据临床分期、不同病情、病理变化性质、癌细胞分化程度和患者个体差异 ,选择中医中药、放射治疗、化疗 ,手术和基因治疗以及其他治疗方法。     

着色性干皮病恶变综合治疗

目的：分析着色性干皮病（Xeroderma Pigmentoss,XP)7例综合治疗效果。方法：1968－2000年XP7例，根据拟订临床分期的原则，采用灵活的中西医药结合治疗方法。结果：全组完全缓解（CR7／7例）率100％。结论：山东产中草药农吉利＋化疗，放疗，手术的缓解效果优于任何单一疗法，手术＋放疗对于XP有起效快，维持时间长的肯定疗效，但对于多部位，多趋势恶变的治疗，需要中西医医药综合治疗，发挥其取长补短的优点，才能取是较好的疗效。     

小淋巴细胞淋巴瘤治疗过程中并发慢性粒细胞性白血病及相关文献复习

目的:探讨在同一例患者中出现小淋巴细胞淋巴瘤/慢性粒细胞自血病(small lymphocytic lymphoma/chronic lympho-cytic leukemia,SLL/CLL)和慢性淋巴细胞白血病(chronic myelogenous leukemia,CML)这2种恶性疾病之间的关系.方法:通过骨髓涂片,淋巴结活检,染色体细胞遗传学及荧光原位杂交(fluorescence in situ hybridization,FISH),FCM等方法,对1例初诊时为SLL/CLL,5年后进展为Ph染色体阳性的CML男性患者进行检测,并对相关文献进行复习.结果:患者在发病初期经骨髓涂片,淋巴结活检等检测确诊为SLL/CLL,但FISH未检测到Ph阳性的染色体异常.经过5年化疗后,再次骨髓培养检测发现46,XY,t(9;22) (q34;q11)染色体异常,患者骨髓出现CML表现.结论:2种肿瘤细胞群体独立起源,第2肿瘤的发生可能和第1肿瘤的过度治疗有关.     

XPC Lys939Gln(A/C)基因多态性与胃癌易感性的Meta分析

目的 探讨着色性干皮病C(XPC)基因939氨基酸位点Lys/Gln多态性与胃癌易感性的关系.方法 计算机检索PubMed、Cochrane Library、Elsevier、Springer-Verlag、中国期刊全文数据库(CNKI)、中国生物医学文献数据库(CBM)、维普中文科技期刊数据库(VIP)及万方医药期刊全文数据库,检索时间为建库至2015年9月,收集有关XPC Lys939Gln(A/C)基因多态性与胃癌易感性的病例对照研究.由两名评价员按照纳入、排除标准独立筛选文献,进行质量评价.采用STATA 12.0软件进行Meta分析,计算比值比(OR)及95％可信区间(CI)进行关联强度评价,并进行亚组、敏感性分析和发表偏倚的检测.结果 本研究共纳入7个病例对照研究,包括2 336例胃癌患者和3 502例健康对照.Meta分析结果显示,与等位基因A比较,等位基因C可增加胃癌的风险(OR=1.09,95％ CI为1.01 ～1.18,Z=2.12,P=0.034);与基因型AA相比,纯合子模型(CC)和显性模型(CC+ AC)基因型可增加罹患胃癌风险(CC vs.AA:OR=1.19,95％ CI为1.00 ～1.42,Z=2.00,P=0.046;CC+ AC vs.AA:OR=1.12,95％ CI为1.00～1.25,Z=2.03,P=0.042).对研究人群和对照来源进行亚组分析结果显示,在亚洲人群和社区来源的对照中,XPC Lys939Gln(A/C)基因多态性与胃癌风险有关.亚洲人群中,C vs.A:OR=1.10,95％ CI为1.01 ～ 1.20,Z=2.28,P=0.023;CC vs.AA:OR =1.21,95％ CI为1.01 ～1.46,Z =2.02,P=0.043;CC+AC vs.AA:OR=1.13,95％ CI为1.01 ～ 1.27,Z=2.11,P=0.035.社区来源的对照组中,C vs.A:OR =1.11,95％ CI为1.01 ～1.21,Z=2.25,P=0.024;CC vs.AA:OR =1.23,95％ CI为1.02 ～ 1.50,Z=2.12,P=0.034.结论 XPC Lys939Gln(A/C)基因多态性可能与罹患胃癌的易感性有关.等位基因C、基因型CC和CC +AC可能增加胃癌的风险.     

Update on the Management of Pancreatic Cancer in Older Adults

Pancreatic cancer is more common in older adults, who are underrepresented in clinical trials and frequently under treated. Chronological age alone should not deter clinicians from offering treatment to geriatric patients, as they are a heterogeneous population. Geriatric assessment, frailty assessment tools, and toxicity risk scores help clinicians select appropriate patients for therapy. For resectable disease, surgery can be safe but should be done at a high-volume center. Adjuvant therapy is important; though there remains controversy on the role of radiation, chemotherapy is well studied and efficacious. In locally advanced unresectable disease, chemoradiation or chemotherapy alone is an option. Neoadjuvant therapy improves the chances of resectability in borderline resectable disease. Chemotherapy extends survival in metastatic disease, but treatment goals and risk-benefit ratios have to be clarified. Adequate symptom management and supportive care are important. There are now many new treatment strategies and novel therapies for this disease.     

Prise en charge du cancer de l’ovaire

Ovarian carcinoma is the worst gynecologic cancer due to an advanced stage at diagnosis in two thirds of the cases. Advanced stages are usually characterized by a large tumor burden on the ovaries as well as metastatic disease in the peritoneal cavity. Early stages are more common in young women and the surgical treatment should comprise the tumor excision and a comprehensive abdominal staging to be sure that there is no extension beyond the ovaries-unilateral oophorectomy can preserve the fertility before child-bearing. No treatment is needed after surgery in stage I without poor pronostic factors. Adjuvant chemotherapy should be applied postoperatively in the other cases. The best likelihood of prolonged survival is observed after optimal debulk-ing surgery and chemotherapy in advanced stages. If possible surgery should be performed at first but in most advanced stage with large tumor volume in the upper abdomen according to clinical and CT-scan examination, the concept of chemosurgical debulking shoud be considered. Interval surgery underwent after three or four courses of front line chemotherapy but this strategy should be further evaluated by clinical trials. Currently paraplatin associated with paclitaxel is the most commonly used regimen due to its effectiveness and lower toxicity. In a near future progress can be expected with new protocols. Thank to agressive surgery and chemotherapy many patients should be able to reach a complete remission of their disease but most of them will still die of recurrent disease. At this point, two questions should be answered: 1) how to manage the residual abdominal disease in order to prevent the recurrence. No consolidation treatment demontrated any superiority but the French experience and trial with high dose chemotherapy supported by autologous stem cells transplantation showed recently positive results? 2) How to manage the recurrent disease with sometime indication for secondary surgical debulking and always chemotherapy? This is the field for testing new drugs or new strategies. A large number of patients should enter clinical trials in order to answer these questions and due to the very poor prognosis of this disease large attention should be given to the quality of life of theses patients.     

江浙皖沪十五县市女性乳腺疾病现状调查和分析

乳腺疾病发病逐年上升，本文就三省十五县市妇女乳腺疾病普查资料作分析。提出我国妇女乳腺疾病已发展成常见病，各种职业女性发病情况各不相同，地区差异明显。乳腺疾病健康教育和自我检查（ｂｒｅａｓｔｓｅｌｆｅｘａｍｉｎａｔｉｏｎ，ＢＳＥ）工作应加强，治疗方法有待改进，用联合诊断方法可提高乳腺癌检出率，坚持高效低成本的长年定期普查和防治知识普及，有利乳腺疾病防治。     

Achieving Consensus for Management of Hormone-Sensitive,Low-Volume Metastatic Prostate Cancer in Italy

Metastatic hormone-sensitive prostate cancer (mHSPC) is usually categorized as high- or low-volume disease. This is relevant because low- and high-volume metastatic disease are associated with different outcomes, and thus management of the two forms should differ. Although some definitions have been reported, the concept of oligometastatic disease is not so clearly defined, giving rise to further variability in the choice of treatment, mainly between systemic agents and radiotherapy, especially in the era of metastasis-directed therapy. With the aim of providing clinicians with guidance on best practice, a group of medical and radiation oncologists, experts in prostate cancer, used the round robin method to generate a series of consensus statements on management of low-volume mHSPC. Consensus was obtained on three major areas of controversy: (1) with regard to clinical definitions of mHSPC, it was held that oligometastatic and low-volume disease refer to different concepts and should not be used interchangeably; (2) regarding therapy of de novo low-volume metastatic disease, androgen deprivation therapy alone can be considered undertreatment, and all patients should be evaluated for systemic treatment combinations; local therapy should not be denied in patients with mHSPC, regardless of the intensity of systemic therapy, and metastasis-directed therapy can be proposed in selected cases; (3) with regard to treatment of metachronous metastatic disease, patients should be evaluated for systemic treatment combinations. Metastasis-directed therapy can be proposed to delay systemic treatment in selected cases, especially if prostate-specific membrane antigen positron emission tomography staging has been performed and when indolent disease occurs. It is hoped that clinicians treating patients with mHSPC in daily practice will find this expert opinion of value.     

Strategy for the treatment of hairy cell leukemia

Both splenectomy and alpha-interferon are efficient treatments for hairy cell leukemia. Since interferon therapy seems to induce remissions of the disease, avoids the risks of surgery, and sustains the spleen, it should be discussed if this therapy may replace splenectomy as primary treatment for this disease. In order to make this decision the biologic relevance of complete remissions in hairy cell leukemia, the reliability of methods to confirm remission, the benefits and risks of both splenectomy and interferon therapy, and some aspects of the pathogenesis of the disease have to be considered. Based on our experimental and clinical results and data from other groups, we conclude that splenectomy should still be recommended as primary therapy in hairy cell leukemia provided that treatment is indicated and the patient is eligible for surgery.     

Indications for cytostatic therapy in metastatic breast cancer.

Generalized breast cancer is always incurable. The heterogeneity of this disease is reflected by wide variation in treatment response and survival duration. No well-defined factors have been found which can distinguish the patients most likely to benefit from chemotherapy. No superior drug combination or schedule has been convincingly established, and basic facts on quality of life issues are still lacking. The most important treatment goal is to provide meaningful palliation for the individual patient. Indications for chemotherapy are life-threatening disease, distant metastases in receptor-negative disease, and clinically hormone resistant disease. In future trials the importance of potentially relevant biological factors for treatment should be evaluated, and such analyses should, at least partly, replace the presently conducted phase II and phase III studies.     

Management of ductal carcinoma in situ

Ductal carcinoma in situ (DCIS) is an early, localized stage of breast carcinoma that has an excellent prognosis when it is properly treated. The significant increase in the frequency of diagnosis of DCIS in recent years is the result of both better recognition of DCIS among pathologists and widespread use of screening mammography. Multicentricity, bilaterality and histologic subtype are important considerations in the management of this disease. The clinical presentation of DCIS is the presence of either a palpable mass or a mammographic abnormality, most frequently in the form of an area of microcalcifications.For several decades, total mastectomy was considered the appropriate treatment for DCIS, and it should still be considered the standard to which more conservative forms of treatment must be compared. Breast conservation surgery has been used with increasing frequency in the treatment of DCIS but the adequacy of this approach remains subject to controversy. Segmental mastectomy alone may be applied with caution in carefully selected patients, while the rest of the patients undergoing breast conservation surgery should be treated with breast irradiation. Axillary node dissection is generally considered unnecessary in the treatment of DCIS. There is no role for adjuvant chemotherapy in the management of this disease. The role of tamoxifen in the treatment of DCIS is not clearly defined and it should be given only to patients enrolled in clinical trials. Ongoing research should clarify the controversies surrounding DCIS and enable us to define the optimal management for this disease.     

Comparing radical prostatectomy and brachytherapy for localized prostate cancer

Radical prostatectomy and ultrasound-guided transperineal brachytherapy are both commonly used for the treatment of localized prostate cancer. No randomized trials are available to compare these modalities. Therefore, the physician must rely on institutional reports of results to determine which therapy is most effective. While some investigators have concluded that both therapies are effective, others have concluded that radical prostatectomy should remain the gold standard for the treatment of this disease. This article reviews the major series available for both treatments and discusses the major controversies involved in making these comparisons. The data indicate that for low-risk disease, both treatments are effective, controlling disease in over 80% of the cases, with no evidence to support the use of one treatment over the other. Similarly, for intermediate-risk disease, the conclusion that one treatment is superior to the other cannot be drawn. Brachytherapy should be performed in conjunction with external-beam radiation therapy in this group of patients. For patients with high-risk disease, neither treatment consistently achieves biochemical control rates above 50%. Although radical prostatectomy and/or brachytherapy may play a role in the care of high-risk patients in the future, external-beam radiation therapy in combination with androgen deprivation has the best track record to date.     

Practical considerations in the evaluation and management of adrenocortical cancer

Adrenocortical cancer (ACC) is a rare, challenging disease with a broad range of clinical presentations. Often presenting in an advanced stage with a large, locally invasive primary tumor or with Cushing's syndrome, it requires a multidisciplinary approach to treatment. We discuss controversies in the evaluation and management of ACC. We conclude that the role of (18)F-fluorodeoxyglucose positron emission tomography (FDG-PET) remains unclear and that it should be employed sparingly. Biopsies should be performed only when metastatic disease is present and a primary tumor has not been clearly established. Care should be taken in using the Weiss criteria to make decisions regarding prognosis. Surgery is the preferred intervention initially and at the time of recurrence, and every effort should be made to attempt a surgical resection. The latter should be an open resection; laparoscopic resection should not be performed if there is a high suspicion of ACC. The use of mitotane in patients without evidence of disease remains controversial. Systemic chemotherapy is effective in patients with widely metastatic disease or as an adjunct to a surgical intervention and should focus on regimens that have been shown to effect responses; "novel targeted therapies" should not be employed as first-line treatment. Radiofrequency ablation (RFA) and cryoablation can be very helpful but are still under evaluation; embolization with or without chemotherapy may be used as a surgical adjunct. The role of radiation remains to be defined. Finally, physicians caring for these patients need to recognize that Cushing's disease is a debilitating problem that should be managed aggressively; expecting chemotherapy to solve this complication is not appropriate.     

Pancreatic cancer in the older patient

Pancreatic cancer is a disease seen predominantly in elderly patients. Compared to younger patients, older patients are more likely to present with early-stage disease and, therefore, may be candidates for aggressive local treatment. Little published information exists on treatment outcomes for elderly patients with potentially resectable disease or those with locally advanced or metastatic pancreatic cancer. The limited information available suggests that elderly patients are as likely to benefit from surgery, radiation, and chemotherapy as younger patients. Despite this apparent benefit, elderly patients appear to have a worse long-term outcome. This may be due to the failure to offer them aggressive treatment or to comorbid conditions. Nevertheless, further studies need to be conducted in this area, and greater emphasis needs to be placed on including elderly patients in clinical trials. For elderly patients with terminal disease, there should be better use of palliative measures that may be of benefit. Each of these issues is discussed in detail.