急性肿瘤溶解综合征

急性肿瘤溶解综合征（ATLS）为肿瘤治疗过程中的一种严重并发症,主要表现为高尿酸血症、高钾血症和高磷血症,易并发低钙血症、酸中毒及肾功能衰竭,病死率较高。现综述急性肿瘤溶解综合征的病理生理机制、影响急性肿瘤溶解综合征的发生因素、临床表现以及预防、治疗和预后等方面的最新研究进展。     

实体瘤溶解综合征

肿瘤溶解综合征是血液系统肿瘤治疗中常见的并发症,但在实体瘤中较少见,其发病隐匿,极易误诊、漏诊,预后差.实体瘤溶解综合征典型的临床特征为高尿酸血症、高钾血症、高磷血症和低钙血症,并发症主要为急性肾功能衰竭和心律失常.对高危患者进行预防性干预、早期诊断和积极治疗是改善预后的关键.本文回顾既往文献报道的87例实体瘤溶解综合征,对其发病情况、预防和治疗进行综述.     

肿瘤溶解综合征

恶性肿瘤患者由于某种原因引起大量的肿瘤细胞溶解破坏,使大量的代谢产物释放到血液中,导致高尿酸血症、高钾血症、高磷酸及低钙血症,甚至并发急性肾功能衰竭等一系列代谢紊乱综合征,临床上统称为肿瘤溶解综合征(tumorIysis syndrome,TLS).1 病因肿瘤溶解综合征偶可自发于恶性淋巴瘤及白血病患者,但多见于对抗癌药物比较敏感的肿瘤患者,在进行强烈化疗期间出现,如Burkitt淋巴瘤、非霍奇金淋巴瘤、急性淋巴细胞性白血病、急性粒细胞性白血病和慢性粒细胞性白血病加速期.还偶见于小细胞性肺癌、晚期乳腺癌及成神经管细胞瘤.此外,放射治疗、糖皮质激素、三苯氧胺及干扰素的应用也可诱发肿瘤溶解综合征的发生.目前认为,肿瘤溶解综合征的高危因素包括:①肿瘤细胞恶性程度高、增殖比率大;②肿瘤负荷较大的病人;③伴有高乳酸脱氢酶血症及有潜在肾功能不全者.     

急性肿瘤溶解综合征诊断与治疗

急性肿瘤溶解综合征(Acute tumor lysis syn-drome ATLS)是肿瘤治疗过程中出现的一种具有潜在性的致命的严重并发症.发病率为1.1%～6%[1,2],死亡率有时高达36%[3],尽管采取一些预防和治疗措施,仍有25%的患者在化疗期间发生急性肾功能衰竭[4].急性肿瘤溶解综合征虽然是一种危险的肿瘤急症,但可以逆转,关键是积极预防、早期诊断和有效的治疗,特别是对化疗患者予以足够的重视[5].     

小细胞肺癌化疗后出现急性肿瘤溶解综合征一例报告

急性肿瘤溶解综合征 (acutetumorlysissyndrome ,ATLS)是对化疗药物敏感或肿瘤负荷重的肿瘤细胞经有效治疗后 ,大量肿瘤细胞溶解坏死破坏 ,快速释放其内容物而导致的一组代谢异常和电解质紊乱的症候群。它具有以下几项或全部特征 :高尿酸血症、高钾血症、高磷血症、低钙血症、代谢性酸中毒和肾功能不全。ATLS并不常发生 ,一旦发生 ,往往致命。ATLS较常见于恶性淋巴瘤或白血病患者 ,实体肿瘤患者中较少见。我们发现 1例小细胞肺癌患者化疗后出现ATLS ,经过积极的补液、碱化尿液和口服别嘌呤醇 ,纠正电解质紊乱及酸碱平衡失调 ,患者逐…     

1例化疗后致急性肿瘤溶解综合征的急救护理

急性肿瘤溶解综合征常发生于肿瘤增殖迅速及负荷较大而且对化疗较敏感的病人。由于肿瘤本身坏死或放疗化疗的应用引起肿瘤细胞崩解,大量细胞内代谢产物进入血液循环,从而形成高尿酸血症,高钾血症,高磷血症及低钙血症等一系列危急的综合征,如处理不及时,患者死亡率极高。这就要求医护人员除了迅速作出诊断外,还必须熟练地掌握各项抢救技能并采取相应有效的护理措施,     

小细胞肺癌化疗后出现急性肿瘤溶解综合征一例报告

急性肿瘤溶解综合征(acute tumor lysis syndrome，ATLS)是对化疗药物敏感或肿瘤负荷重的肿瘤细胞经有效治疗后，大量肿瘤细胞溶解坏死破坏，快速释放其内容物而导致的一组代谢异常和电解质紊乱的症候群。它具有以下几项或全部特征：高尿酸血症、高钾血症、高磷血症、低钙血症、代谢性酸中毒和肾功能不全。ATLS并不常发生，一旦发生，往往致命。ATLS较常见于恶性淋巴瘤或白血病患者，实体肿瘤患者中较少见。我们发现1例小细胞肺癌患者化疗后出现ATLS，经过积极的补液、碱化尿液和口服别嘌呤醇，纠正电解质紊乱及酸碱平衡失调，患者逐渐恢复正常。     

提高对皮质类固醇诱导的非何杰金氏淋巴瘤肿瘤溶解综合征的认识

急性肿瘤溶解综合征是一种公认的临床疾病,其特征是高钾血症、高尿酸尿症、低钙血症、高磷酸盐血症、乳酸酸中毒和急性肾功能不全。另外,某些病例还有突然死亡的特征,这种病例往往有增生迅速的肿瘤疾病,如高度恶性非何杰金氏淋巴瘤(伯基特淋巴瘤和淋巴母细胞瘤),或用细胞毒化疗的急性淋巴细胞白血病。本综合征由细胞毒化疗导致细胞坏死,细胞内物质迅速释放,产生代谢异常而突然引起。最近,我们见到1例高度恶性非何杰金氏淋巴瘤患者,因大剂量皮质类固醇而产生     

小儿急性肿瘤溶解综合症突发呼吸衰竭和心跳骤停1例

急性肿瘤溶解综合症(ATLS)是一种较为少见的肿瘤化疗反应,多发生在肿瘤生长迅速,化疗敏感的白血病和淋巴瘤等疾病,因肿瘤细胞迅速死亡溶解,出现一系列代谢紊乱,如高尿酸血症、高血钾血症、高磷酸盐血症、低血钙血症和氮质血症等,因此而导致急性肾功能衰竭、呼吸衰竭和心跳骤停.我院于1990年收治1例“非何在金氏淋巴母细胞性淋巴瘤”,在接受综合性化疗后仅6小时即因此症而死亡.     

肿瘤溶解综合征11例报告

目的：探讨肿瘤溶解综合征发生的危险因素及其治疗。方法：对11例化疗早期发生肿瘤溶解综合征的肿瘤患者临床特点及化疗前后各项实验生化指标进行分析。结果：初次治疗、男性、年轻、肿瘤负荷高、化疗前有肾功能不全、血尿酸水平高、血乳酸脱氢酶高、存在脱水和酸性尿等为发生肿瘤溶解综合征的危险因素。结论：对存在发生肿瘤溶解综合征的危险因素的患者，必须高度重视和早期采取发适当治疗措施。     

Clinical Description of the Lynch Syndrome [Hereditary Nonpolyposis Colorectal Cancer (HNPCC)]

The Lynch syndrome [Hereditary Nonpolyposis Colorectal Cancer (HNPCC)] is a dominantly inherited syndrome characterized by the development of a variety of cancers including cancer of colorectum, endometrium, and less frequently, cancer of the small bowel, stomach, urinary tract, ovaries, and brain. The syndrome is due to a mutation in one of the DNA-mismatch repair (MMR) genes. The main features of the syndrome are an early age of onset and the occurrence of multiple tumors. Knowledge of the specific features of the syndrome is crucial for the identification of the Lynch syndrome. In previous years, the Amsterdam criteria were used for recognition of the syndrome. Since we know that the Lynch syndrome is caused by an MMR defect and that the hallmark of the syndrome is microsatellite instability (MSI), more attention should be given to the so-called Bethesda guidelines. These guidelines describe practically all clinical conditions in which there is suspicion of the Lynch syndrome and in which a search for MSI is indicated.     

Current status of familial gastrointestinal polyposis syndromes

Because of the rarity of familial gastrointestinal cancer-predisposing syndromes, their exploration in literature is not extensive. In this review, an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed. In addition, a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included. The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis, the hamartomatous familial polyposes (Juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, hereditary mixed polyposis syndrome, Gorlin syndrome, Birt-Hogg-Dube syndrome, neurofibromatosis type I and multiple endocrine neoplasia syndrome 2B), Li-Fraumeni syndrome, and MUTYH-associated adenomatous polyposis. For proper medical care, subspecialization of gastroenterologists, pathologists, and genticists in the field of familial diseases should be introduced in the medical curriculum.     

The frequency of Muir-Torre syndrome among Lynch syndrome families

Lynch syndrome is the predisposition to visceral malignancies that are associated with deleterious germline mutations in DNA mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2. Muir-Torre syndrome is a variant of Lynch syndrome that includes a predisposition to certain skin tumors. We determined the frequency of Muir-Torre syndrome among 50 Lynch syndrome families that were ascertained from a population-based series of cancer patients who were newly diagnosed with colorectal or endometrial carcinoma. Histories of Muir-Torre syndrome-associated skin tumors were documented during counseling of family members. Muir-Torre syndrome was observed in 14 (28%) of 50 families and in 14 (9.2%) of 152 individuals with Lynch syndrome. Four (44%) of nine families with MLH1 mutations had a member with Muir-Torre syndrome compared with 10 (42%) of 24 families with MSH2 mutations (P = .302). Families who carried the c.942+3A>T MSH2 gene mutation had a higher frequency of Muir-Torre syndrome than families who carried other mutations in the MSH2 gene (75% vs 25%; P = .026). Muir-Torre syndrome was not found in families with mutations in the MSH6 or PMS2 genes. Our results suggest that Muir-Torre syndrome is simply a variant of Lynch syndrome. Screening for Muir-Torre syndrome-associated skin lesions among patients with Lynch syndrome is recommended.     

Lynch综合征相关性子宫内膜癌研究进展

Lynch综合征（Lynch syndrome）又称遗传性非息肉性结直肠癌综合征,是由DNA错配修复（MMR）基因突变引起的一组常染色体显性遗传病。Lynch综合征患者常患有多种原发性肿瘤,女性患者中子宫内膜癌与之最为密切,称为Lynch综合征相关性子宫内膜癌。目前,对Lynch综合征相关性子宫内膜癌无大样本的数据研究,对其筛查及随访缺乏统一策略。为提高对该病的认识与重视,作者对Lynch综合征相关性子宫内膜癌发病机制、临床病理特点、诊断方法、治疗要点及筛查策略等研究进展进行概述。     

Germline PTEN mutations are rare and highly penetrant

Cowden syndrome (multiple hamartoma syndrome, MIM 158350) is an early onset syndrome characterized by multiple hamartomas in the skin, mucous membranes, breast, thyroid and endometrium. Patients with Cowden syndrome have increased risk of breast cancer, thyroid cancer and endometrial cancer. In 1997 germline mutations in PTEN were demonstrated to cause Cowden syndrome. We report the results of diagnostic and predictive testing in all families with Cowden syndrome or suspected Cowden syndrome registered at the Norwegian cancer family clinics. PTEN mutations were found in all six families meeting the clinical criteria for Cowden syndrome, in none of the two families assumed to have Cowden syndrome but not fulfilling the criteria, and in none of the eight families selected in our computerized medical files to have a combination of breast and thyroid cancers. Age-related penetrances for the various neoplasms are given. All families but one were small and de novo mutations were found.     

血管免疫母细胞性T细胞淋巴瘤治疗研究进展

 血管免疫母细胞性T细胞淋巴瘤（AITL）是一种系统性、侵袭性外周T细胞淋巴瘤,目前仍然缺乏标准治疗方案。联合化疗没有明显改善预后且缓解持续时间短;靶向药物和免疫抑制治疗研究样本小,不能明确疗效;大剂量化疗联合自体造血干细胞移植（HDT-ASCT）和异基因造血干细胞移植（allo-HSCT）虽然都取得了显著疗效,但HDT-ASCT具有高复发率、远期继发肿瘤等诸多风险,allo-HSCT亦因移植相关死亡率较高而有待进一步探讨。文章就近年来AITL的治疗研究进展加以综述。     

Gorlin's syndrome: Diffuse appendicular skeletal involvement with scintigraphic correlation

Gorlin's syndrome (also known as basal cell nevus syndrome, Gorlin?Goltz syndrome, and nevoid basal cell carcinoma syndrome) is a rare, inherited disorder characterized by multiple basal‐cell epitheliomas, intracranial calcification, keratocysts of the mandible, and unusual and striking skeletal abnormalities. We present the interesting case of a 45‐year‐old woman who was informed that she had fibrous dysplasia of the extremity at another institution before extensive radiological work‐up showed a diffuse skeletal process. The skeletal abnormalities, in conjunction with the patient's history of multiple basal cell carcinomas, is consistent with the diagnosis of Gorlin's syndrome. We describe this unusual case of striking radiological and scintigraphic findings in a patient with Gorlin's syndrome.     

Poland's syndrome and gastric cancer: report of a case.

Poland's syndrome, a rare congenital anomaly characterized by pectoralis muscle defect and ipsilateral hand abnormalities, has been reported in association with various malignancies. Gastric cancer associated with Poland's syndrome has not been described previously. To our knowledge, the case of the 21-year-old man we describe herein represents the first report of Poland's syndrome associated with gastric cancer. Although previously there was no certain evidence that linked Poland's syndrome and cancer, elucidating the molecular mechanisms that cause this syndrome may further clarify the relationship between Poland's syndrome and malignancies. At least, these associations confirm the relationship between Poland's syndrome and malignancies, and require oncologic awareness.     

Follow-up recommendations and risk-reduction initiatives for Lynch syndrome

Lynch syndrome is the most common inherited colon cancer susceptibility syndrome. Lynch syndrome is characterized by a significantly increased risk for colon cancer and endometrial cancer and a smaller risk for several other associated cancers. Some periodic screening strategies, such as colonoscopy, reduce the incidence and mortality of Lynch syndrome. The aim of this review is to discuss the risks, surveillance tests and guidelines for the management of colonic and extracolonic tumors associated with Lynch syndrome. For extracolonic cancer, a benefit of surveillance is evident only for endometrial cancer. No definitive data show efficacy of chemopreventive drugs, although aspirin is a promising drug. In this review, the available evidence on the different screening strategies in Lynch syndrome will be discussed. Furthermore, the clinical and biological characteristics of this disease and their potential impact on prevention in individuals at risk are analyzed.     

Antiphospholipid antibody syndrome and autoimmune diseases

The arbitrary division between antiphospholipid antibody syndrome and secondary antiphospholipid antibody syndrome has not proven useful. Antiphospholipid antibodies in the absence of antiphospholipid antibody syndrome often occur as epiphenomena in many autoimmune diseases. They are very common in systemic lupus erythematosus. Antiphospholipid antibody syndrome is a significant comorbidity in lupus but is uncommon in Sj?gren's syndrome, rheumatoid arthritis, scleroderma, and systemic vasculitis. Evidence is growing that antiphospholipid antibodies may have a pathogenic role in pulmonary hypertension and accelerated atherosclerosis of autoimmune diseases.