遗传性肾癌综合征课件

遗传性肾癌综合征张洪宪文档ppt遗传性肾癌综合征张洪宪文档ppt1意义意义早期筛查早期筛查仔细随访相应患者及其家属仔细随访相应患者及其家属降低疾病相关死亡率并改善预后降低疾病相关死亡率并改善预后发现遗传性肾癌的相关基因发现遗传性肾癌的相关基因进行肿瘤形成机制相关的细胞分子通路研究进行肿瘤形成机制相关的细胞分子通路研究进行肿瘤治疗的分子靶点的研究进行肿瘤治疗的分子靶点的研究意义早期筛查2种类种类 VHLVHL综合征综合征遗传性乳头状肾细胞癌遗传性乳头状肾细胞癌(HPRC)(HPRC)遗传性平滑肌瘤病及肾细胞癌综合征遗传性平滑肌瘤病及肾细胞癌综合征(HLRCC)(HLRCC)BirtHoggDube BirtHoggDube 综合征综合征结节性硬化病结节性硬化病(TS)(TS)？种类 VHL综合征32024/6/2642023/8/114Von HippleLindau Von HippleLindau 综合征综合征 1895 1895 年由德国眼科教授年由德国眼科教授Eugen von HippleEugen von Hipple首先发现首先发现19261926年由瑞典病理学家年由瑞典病理学家Avid LindauAvid Lindau再次确认再次确认19361936年由年由DavisonDavison教授总结相关临床表现并命名为教授总结相关临床表现并命名为von von Hippel-Lindau syndromeHippel-Lindau syndrome 是一种相对罕见的常染色体显性遗传病，发病率是一种相对罕见的常染色体显性遗传病，发病率1/360001/36000主要表现包括肾透明细胞癌，嗜铬细胞瘤，视网膜成血管主要表现包括肾透明细胞癌，嗜铬细胞瘤，视网膜成血管母细胞瘤，中枢神经系统成血管细胞瘤等母细胞瘤，中枢神经系统成血管细胞瘤等Von HippleLindau 综合征 1895 年由德5基因学研究基因学研究 VHL VHL 基因定位在常染色体基因定位在常染色体3p26-253p26-25目前已被完全测序，并确认是存在于散发性和家目前已被完全测序，并确认是存在于散发性和家族性肾透明细胞癌中的抑癌基因族性肾透明细胞癌中的抑癌基因该基因的丢失、突变和甲基化失活导致正常的该基因的丢失、突变和甲基化失活导致正常的VHLVHL蛋白合成障碍，是导致蛋白合成障碍，是导致VHLVHL综合征的重要分子学基综合征的重要分子学基础础 基因学研究 VHL 基因定位在常染色体3p26-2562024/6/2672023/8/117BirtHoggDube syndrome遗传性乳头状肾细胞癌(HPRC)VHL综合征诊断标准More recently,detailed histologic description has led to more refined characterization of the pathologic features now termed HLRCC renal tumorsThe familial association of perifollicular dermatosis involving the face and trunk among three first-degree relatives was first described by Hornstein and Knickenberg in 1975fumarate hydratase,a Krebs cycle enzyme既往体健，否认高血压病史，否认家族史，体格检查血压轻度升高150/78mmHg遗传性平滑肌瘤病及肾细胞癌肾癌病理类型基本是透明细胞癌亚型，肿瘤体积越小倾向恶性程度越低The gene product,folliculin,is thought to be involved in regulation of the mammalian target of rapamycin(mTOR)pathway by acting through folliculin-interacting protein(FNIP-1)and 50-AMP-activated protein kinase体积较小的肾脏肿瘤（3cm）恶性度低但长期服用免疫抑制剂是否增加VHL综合征其他系统肿瘤的发病率？1936年由Davison教授总结相关临床表现并命名为von Hippel-Lindau syndrome肾脏其他病理类型肿瘤未发现VHL基因突变chromophobe嫌色细胞,oncocytoma,clear cell and hybrid oncocytic tumors composed of elements of oncocytoma and chromophobe但长期服用免疫抑制剂是否增加VHL综合征其他系统肿瘤的发病率？potentially misclassified as collecting duct tumors结合上述临床表现诊断为VHL综合征。Two years later,Drs Birt,Hogg and Dube described clinical dermatologic findings involving 15 family members with similar skin nodules described as fibrofolliculomas纤维毛囊瘤,trichodiscomas毛盘状瘤 acrochordons软垂疣该基因在该基因在VHLVHL病家族成员中突变率几乎达病家族成员中突变率几乎达100%100%散发的肾透明细胞癌患者中，散发的肾透明细胞癌患者中，VHLVHL基因突变率为基因突变率为46%46%70%70%肾脏其他病理类型肿瘤未发现肾脏其他病理类型肿瘤未发现VHLVHL基因突变基因突变 BirtHoggDube syndrome该基因在VHL8VHLVHL综合征临床表现综合征临床表现2024/6/269VHL综合征临床表现2023/8/119VHLVHL综合征诊断标准综合征诊断标准 （1 1）中枢神经系统或视网膜成血管细胞瘤家族病史，）中枢神经系统或视网膜成血管细胞瘤家族病史，有一种成血管细胞瘤或内脏病变（如肾肿瘤、胰腺肿有一种成血管细胞瘤或内脏病变（如肾肿瘤、胰腺肿瘤或囊肿、嗜铬细胞瘤、附睾乳头状囊腺瘤等）瘤或囊肿、嗜铬细胞瘤、附睾乳头状囊腺瘤等）（2 2）对于无明确家族遗传史的孤立病例，若患有两种）对于无明确家族遗传史的孤立病例，若患有两种或两种以上成血管母细胞瘤或两种以上成血管母细胞瘤,或一种成血管母细胞瘤或一种成血管母细胞瘤和一种内脏病变和一种内脏病变 VHL综合征诊断标准（1）中枢神经系统或视网膜成血管细胞瘤10类型类型 I I型不表现为肾上腺嗜铬细胞瘤，病变可累及中枢神经型不表现为肾上腺嗜铬细胞瘤，病变可累及中枢神经系统、肾脏、胰腺等系统、肾脏、胰腺等型伴发肾上腺嗜铬细胞瘤型伴发肾上腺嗜铬细胞瘤AA型，不伴有肾癌型，不伴有肾癌BB型，伴有肾癌型，伴有肾癌CC型，仅有肾上腺嗜铬细胞瘤表现型，仅有肾上腺嗜铬细胞瘤表现 类型 I型不表现为肾上腺嗜铬细胞瘤，病变可累及中枢神经系统、11临床特点临床特点一般情况下，病变是视网膜成血管母细胞瘤最早出一般情况下，病变是视网膜成血管母细胞瘤最早出现，然后是中枢神经系统血管母细胞瘤，而肾癌出现，然后是中枢神经系统血管母细胞瘤，而肾癌出现较晚现较晚中枢神经系统血管母细胞瘤和肾脏透明细胞癌为该中枢神经系统血管母细胞瘤和肾脏透明细胞癌为该病最常见的致死原因病最常见的致死原因嗜铬细胞瘤，临床上多因出现高血压症状而发现嗜铬细胞瘤，临床上多因出现高血压症状而发现其他病变如胰腺囊肿、附睾或阔韧带乳头状囊腺瘤、其他病变如胰腺囊肿、附睾或阔韧带乳头状囊腺瘤、肾囊肿肾囊肿,多无明显症状，一般预后良好多无明显症状，一般预后良好 临床特点一般情况下，病变是视网膜成血管母细胞瘤最早出现，然后12VHLVHL综合征是遗传性肾癌最常见的原因综合征是遗传性肾癌最常见的原因肾癌也是肾癌也是VHLVHL综合征主要的恶性肿瘤综合征主要的恶性肿瘤与散发的肾癌相比并无特异性与散发的肾癌相比并无特异性 肾癌占肾癌占VHLVHL综合征患者死亡原因的综合征患者死亡原因的50%50%，发生率为，发生率为24247 70%0%加上肾囊肿，加上肾囊肿，VHLVHL综合征患者中肾脏病变的发生率可达到综合征患者中肾脏病变的发生率可达到60%60%肾脏病变的平均年龄为肾脏病变的平均年龄为3939岁岁(16(1667)67)体积较小的肾脏肿瘤（体积较小的肾脏肿瘤（3cm3cm）恶性度低）恶性度低VHLVHL综合征肾脏病变为多灶性综合征肾脏病变为多灶性 VHL综合征是遗传性肾癌最常见的原因13WaltherWalther等对等对VHLVHL综合征患者的肾脏标本进行研究，综合征患者的肾脏标本进行研究，显微镜下观察，发现有的标本中存在显微镜下观察，发现有的标本中存在600600个肿瘤病个肿瘤病灶和灶和11001100个囊肿病灶个囊肿病灶随访研究表明由单纯囊肿变为肾癌的可能性很小随访研究表明由单纯囊肿变为肾癌的可能性很小所以所以VHLVHL综合征的单纯肾囊肿若没有症状一般无需综合征的单纯肾囊肿若没有症状一般无需特殊治疗特殊治疗 但是复杂的囊肿有可能包含肿瘤组织而逐渐生长，但是复杂的囊肿有可能包含肿瘤组织而逐渐生长，需要定期监测需要定期监测 Walther等对VHL综合征患者的肾脏标本进行研究，显微镜14散发的肾癌一样，散发的肾癌一样，VHLVHL综合征肾癌缺乏早期临床症综合征肾癌缺乏早期临床症状，通常在很长时间内都没有任何表现状，通常在很长时间内都没有任何表现 肾癌进展的病例可以表现为血尿，疼痛或肿块肾癌进展的病例可以表现为血尿，疼痛或肿块 肾癌病理类型基本是透明细胞癌亚型，肿瘤体积肾癌病理类型基本是透明细胞癌亚型，肿瘤体积越小倾向恶性程度越低越小倾向恶性程度越低与非与非VHLVHL综合征肾癌相比，综合征肾癌相比，VHLVHL综合征肾癌的发病综合征肾癌的发病年龄较早，通常表现为双侧多中心的实性和囊性年龄较早，通常表现为双侧多中心的实性和囊性的病变的病变 散发的肾癌一样，VHL综合征肾癌缺乏早期临床症状，通常在很长15治疗治疗VHLVHL综合征患者肾癌的预后与肿瘤的大小密切相关综合征患者肾癌的预后与肿瘤的大小密切相关 对最大径超过对最大径超过3cm3cm的肿瘤行肾部分切除术，这样可以减的肿瘤行肾部分切除术，这样可以减低肿瘤的转移的风险而且保留肾脏的功能低肿瘤的转移的风险而且保留肾脏的功能对于直径较小的肿瘤（对于直径较小的肿瘤（3cm3cm）可以选择密切观察）可以选择密切观察 治疗VHL综合征患者肾癌的预后与肿瘤的大小密切相关 16一项研究对肾脏肿瘤小于一项研究对肾脏肿瘤小于3cm3cm的的108108例例VHLVHL综合征患者与肿瘤综合征患者与肿瘤大于大于3cm3cm的的7373例患者做比较例患者做比较中位时间超过中位时间超过5 5年随访结果显示肿瘤小于年随访结果显示肿瘤小于3cm3cm患者中无病例患者中无病例发生转移，而肿瘤大于发生转移，而肿瘤大于3cm3cm组组7373例患者中有例患者中有2020例发生转移例发生转移（27%27%）VHLVHL综合征肾癌常为双侧多发，肿瘤生长较慢，转移较晚，综合征肾癌常为双侧多发，肿瘤生长较慢，转移较晚，肾脏肿瘤平均每年增长肾脏肿瘤平均每年增长一般不建议对一般不建议对VHLVHL综合征行肾根治性切除术，即使为单侧肾综合征行肾根治性切除术，即使为单侧肾癌，也应尽量行保留肾单位的肿瘤切除手术，因为对侧肾癌，也应尽量行保留肾单位的肿瘤切除手术，因为对侧肾脏也有再发生肾癌的可能脏也有再发生肾癌的可能 一项研究对肾脏肿瘤小于3cm的108例VHL综合征患者与肿瘤17如果无法保留肾脏，可选择进行双侧肾根治性切除术，如果无法保留肾脏，可选择进行双侧肾根治性切除术，再透析或行肾移植术加服免疫抑制剂再透析或行肾移植术加服免疫抑制剂当当VHLVHL患者接受肾移植以后，移植肾无发展为肾囊肿或患者接受肾移植以后，移植肾无发展为肾囊肿或肾癌的倾向肾癌的倾向但长期服用免疫抑制剂是否增加但长期服用免疫抑制剂是否增加VHLVHL综合征其他系统肿综合征其他系统肿瘤的发病率？瘤的发病率？如果无法保留肾脏，可选择进行双侧肾根治性切除术，再透析或行肾18VHLVHL基因抑癌机制清楚，抑癌作用明显，而且基因抑癌机制清楚，抑癌作用明显，而且VHLVHL基因基因只有只有3 3个外显子，是基因治疗十分理想的目的基因个外显子，是基因治疗十分理想的目的基因目前目前VHLVHL基因治疗还处在体外研究动物实验阶段基因治疗还处在体外研究动物实验阶段VHLVHL基因治疗将为基因治疗将为VHLVHL综合征治疗开辟一个新的方向综合征治疗开辟一个新的方向 VHL基因抑癌机制清楚，抑癌作用明显，而且VHL基因只有3个19随访随访VHLVHL综合征合并肾癌的患者应每年复查一次综合征合并肾癌的患者应每年复查一次CTCT或或MRIMRI如果最大肿瘤直径超过如果最大肿瘤直径超过3cm3cm，就应对所有肿瘤行肿，就应对所有肿瘤行肿瘤剜除术或肾部分切除术瘤剜除术或肾部分切除术有有VHLVHL家族病史的人，也应该每年复查一次家族病史的人，也应该每年复查一次CTCT对于无肿瘤的单纯囊肿，不推荐手术切除对于无肿瘤的单纯囊肿，不推荐手术切除 随访VHL综合征合并肾癌的患者应每年复查一次CT或MRI20遗传性肾癌综合征课件21遗传性乳头状肾细胞癌遗传性乳头状肾细胞癌指的是病人易于罹患肾乳头状细胞癌的状态指的是病人易于罹患肾乳头状细胞癌的状态与与c-Metc-Met原癌基因的突变有关，定位于染色体原癌基因的突变有关，定位于染色体7q317q31常染色体显性遗传常染色体显性遗传遗传性乳头状肾细胞癌指的是病人易于罹患肾乳头状细胞癌的状态22临床表现临床表现发病隐匿，多无明显临床表现发病隐匿，多无明显临床表现多为多灶性，双侧发病多为多灶性，双侧发病影像学表现为乏血供的肿瘤，影像学表现为乏血供的肿瘤，CTCT增强仅表现为轻度强增强仅表现为轻度强化（增加化（增加10-30HU10-30HU），），MRIMRI增强仅增强仅15%15%临床表现发病隐匿，多无明显临床表现232024/6/26242023/8/1124散发的肾透明细胞癌患者中，VHL基因突变率为46%70%遗传性平滑肌瘤病及肾细胞癌Renal cancers with a prevalence estimated between 2 and 21%散发的肾透明细胞癌患者中，VHL基因突变率为46%70%结合上述临床表现诊断为VHL综合征。中枢神经系统血管母细胞瘤和肾脏透明细胞癌为该病最常见的致死原因但长期服用免疫抑制剂是否增加VHL综合征其他系统肿瘤的发病率？患者手术采用平卧位略垫高腰部，取双侧肋缘下人字形切口至两侧腋中线。Mean age at diagnosis is older,near age 50 yearsrenal tumorspulmonary metastases from a case of locally advanced clear cell carcinoma in a 20-year-old patient遗传性平滑肌瘤病及肾细胞癌加上肾囊肿，VHL综合征患者中肾脏病变的发生率可达到60%患者实施双肾部分切除术，左肾上腺切除术。主要表现包括肾透明细胞癌，嗜铬细胞瘤，视网膜成血管母细胞瘤，中枢神经系统成血管细胞瘤等治疗治疗通常选择肾部分切除术通常选择肾部分切除术术中仔细检查，防止遗漏病灶术中仔细检查，防止遗漏病灶散发的肾透明细胞癌患者中，VHL基因突变率为46%70%治25遗传性平滑肌瘤病及肾细胞癌A relatively new,rare and aggressive form A relatively new,rare and aggressive form of HRC syndromeof HRC syndromecutaneous leiomyomascutaneous leiomyomas uterine leiomyomas uterine leiomyomas renal cell carcinoma renal cell carcinomafumarate hydratase,a Krebs cycle enzymefumarate hydratase,a Krebs cycle enzyme遗传性平滑肌瘤病及肾细胞癌A relatively new,26GeneticsGeneticsBe mapped to a region on chromosome 1 Be mapped to a region on chromosome 1(1q42.3-43)(1q42.3-43)encodes for the HLRCC gene product,encodes for the HLRCC gene product,fumarate hydratasefumarate hydratasean autosomal dominant patternan autosomal dominant patternthe tumor suppressor function of the genethe tumor suppressor function of the geneGeneticsBe mapped to a region 27Clinical featuresClinical featuresthe finding of severely symptomatic uterine the finding of severely symptomatic uterine fibroids among affected women within fibroids among affected women within familiesfamiliesoften requiring early hysterectomy due to often requiring early hysterectomy due to difficulties from menometrorrhagiadifficulties from menometrorrhagia89%of affected women underwent 89%of affected women underwent hysterectomyhysterectomy44%before the age of 3044%before the age of 30Clinical featuresthe finding o28Isolated cases of uterine leiomyosarcomasIsolated cases of uterine leiomyosarcomasCutaneous leiomyomas are common among affected Cutaneous leiomyomas are common among affected individuals,though may be difficult to individuals,though may be difficult to identifyidentifyIsolated cases of uterine leio29Renal cancers with a prevalence estimated Renal cancers with a prevalence estimated between 2 and 21%between 2 and 21%papillary type 2 tumors papillary type 2 tumors potentially misclassified as collecting potentially misclassified as collecting duct tumorsduct tumorsMore recently,detailed histologic More recently,detailed histologic description has led to more refined description has led to more refined characterization of the pathologic features characterization of the pathologic features now termed HLRCC renal tumorsnow termed HLRCC renal tumorsRenal cancers with a prevalenc30ManagementManagementRadiographic appearance of HLRCC tumors may appear Radiographic appearance of HLRCC tumors may appear partly cystic and poorly definedpartly cystic and poorly definedNephron-sparing surgery is less well established in Nephron-sparing surgery is less well established in this setting this setting Surgical intervention must be performed with care Surgical intervention must be performed with care to ensure minimal handling of the tumor and to ensure minimal handling of the tumor and complete wide resection,including lymph node complete wide resection,including lymph node dissectiondissectionPreoperative PET scans may prove beneficial in Preoperative PET scans may prove beneficial in cases in which lymph node or nonlocalized disease cases in which lymph node or nonlocalized disease is suspectedis suspectedManagementRadiographic appeara31BirtHoggDube syndromeBirtHoggDube syndromeThe familial association of perifollicular The familial association of perifollicular dermatosis involving the face and trunk among three dermatosis involving the face and trunk among three first-degree relatives was first described by first-degree relatives was first described by Hornstein and Knickenberg in 1975Hornstein and Knickenberg in 1975Two years later,Drs Birt,Hogg and Dube described Two years later,Drs Birt,Hogg and Dube described clinical dermatologic findings involving 15 family clinical dermatologic findings involving 15 family members with similar skin nodules described as members with similar skin nodules described as fibrofolliculomasfibrofolliculomas纤维毛囊瘤纤维毛囊瘤,trichodiscomas,trichodiscomas毛盘状瘤毛盘状瘤 acrochordonsacrochordons软垂疣软垂疣BirtHoggDube syndromeThe fam32GeneticsGeneticsautosomal dominant patterns of inheritance autosomal dominant patterns of inheritance chromosomechromosomeThe gene product,folliculin,is thought to be The gene product,folliculin,is thought to be involved in regulation of the mammalian target involved in regulation of the mammalian target of rapamycin(mTOR)pathway by acting through of rapamycin(mTOR)pathway by acting through folliculin-interacting protein(FNIP-1)and 50-folliculin-interacting protein(FNIP-1)and 50-AMP-activated protein kinaseAMP-activated protein kinaseGeneticsautosomal dominant pat33Clinical featuresClinical featuresClassic triad of skin fibrofolliculomasClassic triad of skin fibrofolliculomas pulmonary cysts pulmonary cysts renal tumors renal tumorsClinical featuresClassic triad34renal tumors were discovered in 14-34%.renal tumors were discovered in 14-34%.Spontaneous pneumothoraces occurred in 23%Spontaneous pneumothoraces occurred in 23%:most common in younger family members(40:most common in younger family members(40 years)years)Lung cysts were common and seen in 83%Lung cysts were common and seen in 83%Skin lesions in 90%Skin lesions in 90%renal tumors were discovered i35the relative heterogeneity of tumor the relative heterogeneity of tumor subtypes subtypes indolent forms of diseaseindolent forms of diseasechromophobechromophobe嫌色细胞嫌色细胞,oncocytoma,clear cell,oncocytoma,clear cell and hybrid oncocytic tumors composed of and hybrid oncocytic tumors composed of elements of oncocytoma and chromophobeelements of oncocytoma and chromophobeMean age at diagnosis is older,near age 50 Mean age at diagnosis is older,near age 50 yearsyearsthe relative heterogeneity of 36Pathologic analysis of 130 tumors obtained from Pathologic analysis of 130 tumors obtained from 30 surgically managed cases identified 30 surgically managed cases identified proportional differences including hybrid proportional differences including hybrid onco/chromo 50%,chromophobe 34%,conventional onco/chromo 50%,chromophobe 34%,conventional clear cell 9%,oncocytoma 5%and papillary 2%clear cell 9%,oncocytoma 5%and papillary 2%Pathologic analysis of 130 tum37less aggressive tumor histologiesless aggressive tumor histologiesnot be considered an indolent disease processnot be considered an indolent disease processaggressive tumor features in young patientsaggressive tumor features in young patients pulmonary metastases from a case of locally pulmonary metastases from a case of locally advanced clear cell carcinoma in a 20-year-old advanced clear cell carcinoma in a 20-year-old patientpatientOne 39-year old patient with BHD and mixed renal One 39-year old patient with BHD and mixed renal tumor,including clear cell components developed tumor,including clear cell components developed distant progression and deathdistant progression and deathless aggressive tumor histolog382024/6/26392023/8/11392024/6/26402023/8/11402024/6/26412023/8/11412024/6/26422023/8/1142ManagementManagementintervention for tumors,which grow to reach intervention for tumors,which grow to reach 3cm in size and include the use of nephron-3cm in size and include the use of nephron-sparing procedures when possiblesparing procedures when possibleManagementintervention for tum43总结总结中、青年居多，有中、青年居多，有/无家族史无家族史肾肿瘤多为双侧、多发肾肿瘤多为双侧、多发合并其它脏器病变合并其它脏器病变染色体和基因异常染色体和基因异常治疗：肾肿瘤直径小于治疗：肾肿瘤直径小于3cm3cm者观察等待，当肾肿瘤直径者观察等待，当肾肿瘤直径大于大于3cm3cm时可手术，以时可手术，以NSSNSS首选首选总结中、青年居多，有/无家族史44病例病例男性，男性，2121岁岁体检体检B B超发现双肾占位，胰腺占位超发现双肾占位，胰腺占位3 3周就诊周就诊患者无明显的症状，无血尿、心悸、出汗、头痛。患者无明显的症状，无血尿、心悸、出汗、头痛。既往体健，否认高血压病史，否认家族史，体格既往体健，否认高血压病史，否认家族史，体格检查血压轻度升高检查血压轻度升高150/78mmHg150/78mmHg病例男性，21岁45腹部腹部CTCT显示双肾多个大小不等低密度影，部分边缘欠清晰，显示双肾多个大小不等低密度影，部分边缘欠清晰，增强后，右肾上极及左肾门处见不均匀性强化，分别为，。增强后，右肾上极及左肾门处见不均匀性强化，分别为，。内未见脂肪密度。双肾内亦可见多个不强化低密度影，最内未见脂肪密度。双肾内亦可见多个不强化低密度影，最大者于右肾实质内，大小，增强后边缘较前清晰。左肾上大者于右肾实质内，大小，增强后边缘较前清晰。左肾上腺区类圆形软组织肿块影，密度均匀，边缘光滑，大小，腺区类圆形软组织肿块影，密度均匀，边缘光滑，大小，增强后见明显均匀强化。胰颈部、尾部见斑片状低密度影，增强后见明显均匀强化。胰颈部、尾部见斑片状低密度影，增强后有轻度强化。增强后有轻度强化。CTCT影像表现提示双肾多发肿瘤、多发影像表现提示双肾多发肿瘤、多发囊肿，左肾上腺肿瘤，胰腺囊腺瘤囊肿，左肾上腺肿瘤，胰腺囊腺瘤2024/6/2646腹部CT显示双肾多个大小不等低密度影，部分边缘欠清晰，增强后头颅头颅MRIMRI显示左侧延髓见类圆形混杂信号灶，大小显示左侧延髓见类圆形混杂信号灶，大小约，增强扫描明显强化，符合血管母细胞瘤约，增强扫描明显强化，符合血管母细胞瘤行眼底荧光血管造影提示双眼视网膜大动脉血管行眼底荧光血管造影提示双眼视网膜大动脉血管母细胞瘤母细胞瘤阴囊阴囊B B超提示双侧附睾头囊肿，左侧，右侧，精液超提示双侧附睾头囊肿，左侧，右侧，精液囊肿可能囊肿可能结合上述临床表现诊断为结合上述临床表现诊断为VHLVHL综合征。术前检查患综合征。术前检查患者血清儿茶酚胺水平位于正常范围内者血清儿茶酚胺水平位于正常范围内 头颅MRI显示左侧延髓见类圆形混杂信号灶，大小约，增强扫描明47遗传性肾癌综合征课件48患者实施双肾部分切除术，左肾上腺切除术。胰腺病变考患者实施双肾部分切除术，左肾上腺切除术。胰腺病变考虑良性肿瘤可能性大，另外同期手术创伤大，故未一期同虑良性肿瘤可能性大，另外同期手术创伤大，故未一期同时处理时处理患者手术采用平卧位略垫高腰部，取双侧肋缘下人字形切患者手术采用平卧位略垫高腰部，取双侧肋缘下人字形切口至两侧腋中线。手术先处理右肾。术中可见右肾表面有口至两侧腋中线。手术先处理右肾。术中可见右肾表面有多发大小不等的透明囊肿，囊肿直径最大约，用电刀将多多发大小不等的透明囊肿，囊肿直径最大约，用电刀将多发囊肿逐一去顶。同时肾表面可见发囊肿逐一去顶。同时肾表面可见8 8个淡黄色结节样质硬肿个淡黄色结节样质硬肿瘤，肿瘤直径最大约，位于肾下极背侧近肾门处，突出肾瘤，肿瘤直径最大约，位于肾下极背侧近肾门处，突出肾脏表面，遂用剪刀将直径六处结节样肿瘤距瘤体周缘处完脏表面，遂用剪刀将直径六处结节样肿瘤距瘤体周缘处完整切除肿瘤，用整切除肿瘤，用3-03-0可吸收线将其间断缝合，部分中间填塞可吸收线将其间断缝合，部分中间填塞止血纱布止血纱布患者实施双肾部分切除术，左肾上腺切除术。胰腺病变考虑良性肿瘤49阻断右肾动脉，将另外两处大肿瘤同法切除，中间留置自阻断右肾动脉，将另外两处大肿瘤同法切除，中间留置自体腰部所取肌肉组织、止血纱布，体腰部所取肌肉组织、止血纱布，2-02-0肝针线贯穿间断缝合肝针线贯穿间断缝合肾脏伤口处肾脏伤口处2323针，止血满意，动脉阻断时间针，止血满意，动脉阻断时间12min12min，同法，同法处理左肾多发囊肿，左肾表面淡黄色结节样质硬肿瘤共处理左肾多发囊肿，左肾表面淡黄色结节样质硬肿瘤共1616处，不阻断动脉切除其中处，不阻断动脉切除其中1515块大小不等肿物，然后阻断肾块大小不等肿物，然后阻断肾动脉，切除位于左肾上极背侧近肾门处，直径约动脉，切除位于左肾上极背侧近肾门处，直径约3cm3cm的肿瘤，的肿瘤，动脉阻断时间动脉阻断时间7min7min。左肾上腺肿物直径约为。左肾上腺肿物直径约为2cm2cm，位于左肾，位于左肾上腺下极，完整切除肿瘤及部分肾上腺上腺下极，完整切除肿瘤及部分肾上腺 阻断右肾动脉，将另外两处大肿瘤同法切除，中间留置自体腰部所取50遗传性肾癌综合征课件51遗传性肾癌综合征课件52