Colonic manifestations of PTEN hamartoma tumor syndrome: Case series and systematic review

AIM:To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten(PTEN)hamartoma tumor syndrome(PHTS)and to perform a systematic literature review regarding the same.METHODS:This study was approved by the appropriate institutional review board prior to initiation.A clinical genetics database was searched for patients with PHTS or a component syndrome that received gastrointestinal endoscopy or pathology interpretation at our center.These patient’s records were retrospectively reviewed for clinical characteristics(including family history and genetic testing),endoscopy results and pathology findings.We also performed a systematic review of the literature for case series of PHTS or component syndromes that reported gastrointestinal manifestations and investigations published after consensus diagnostic criteria were established in 1996.These results were compiled and reported.RESULTS:Eight patients from our institution met initial inclusion criteria.Of these,5 patients underwent4.2 colonoscopies at mean age 45.8±10.8 years.All were found to have colon polyps during their clinical course and polyp histology included adenoma,hyperplastic,ganglioneuroma and juvenile.No malignant lesions were identified.Two had multiple histologic types.One patient underwent colectomy due to innumerable polyps and concern for future malignant potential.Systematic literature review of PHTS patients undergoing endoscopy revealed 107 patients receiving colonoscopy at mean age 37.4 years.Colon polyps were noted in92.5%and multiple colon polyp histologies were reported in 53.6%.Common polyp histologies included hyperplastic(43.6%),adenoma(40.4%),hamartoma(38.3%),ganglioneuroma(33%)and inflammatory(24.5%)polyps.Twelve(11.2%)patients had colorectal cancer at mean age 46.7 years(range 35-62).Clinical outcomes secondary to colon polyposis and malignancy were not commonly reported.CONCLUSION:PHTS has a high prevalence of colon polyposis with multiple histologic types.It should be considered a mixed polyposis syndrome.Systematic review found an increased prevalence of colorectal cancer and we recommend initiating colonoscopy for colorectal cancer surveillance at age 35 years.     

肺错构瘤24例临床分析

分析２４例肺错构瘤，均为肺实质型，男妇之比为１．４：１，平均年龄４６．４岁。１６例无症状，有症状者常表现为胸闷，胸痛，咳嗽，气短和咯血。肺错构瘤由软骨，脂肪，平滑肌和呼吸道上皮等组成，Ｘ线表现呈界线清楚的圆形式椭圆形阴影，１例为哑铃状，３３％的病例有化影，肿埠真径＜３ｃｍ者１９例（占７９％），位于肺边缘表浅部１７例（占７０％）。由于难以与肺癌，肺结核瘤相鉴别，术前仅６例诊断本病。肺错构瘤应手术治疗     

乳腺错构瘤的X线诊断(附20例报告)

目的：分析乳腺错构瘤的X线征象，以提高对其影像诊断水平。材料与方法：回顾性分析20例经病理证实的乳腺错构瘤的X线平片。结果：主要X线征：（1）低密度肿块5例。（2）高密度肿块3例。（3）混杂密度肿块10例。（4）未见肿块2例。结论：乳腺错构瘤的X线表现与其病灶内低密度的脂肪组织及高密度的腺体组织，纤维组织所占的比例有关，其中混杂密度是特异性的X线表现。     

肾上皮样血管平滑肌脂肪瘤诊治探讨

目的 提高肾上皮样血管平滑肌脂肪瘤(EAML)的诊治水平.方法 肾EAML患者5例.男3例,女2例.平均年龄46(26～64)岁.患侧腰部胀痛3例,体检偶然发现2例.肿瘤直径2.9～10.1 cm.B超和CT检查诊断为血管平滑肌脂肪瘤2例,肾癌、肾上腺肿瘤、肝癌各1例.行肾肿瘤剜除术3例,肾楔形切除术1例,肾切除术1例.结果 病理报告:肿瘤由不同比例的异常厚壁血管、平滑肌和脂肪组织构成.上皮样细胞胞质浓密嗜酸性或透亮,有嗜酸性颗粒,并有丰富的血管,上皮样细胞簇常围绕血管.组织学形态表现为圆形、多边形和梭形上皮样细胞灶性分布于脂肪瘤中,上皮样瘤细胞免疫组化标记SMA、Vimentin、HMB45表达阳性.5例病理诊断均为肾EAML.随访2～12个月,未见局部复发及远处转移.结果 肾EAML由厚壁血管、脂肪和平滑肌细胞混合组成,上皮样细胞簇常围绕血管.确诊依赖于临床、影像学及病理学检查相结合,免疫组织化学染色有助于诊断及鉴别诊断.早期诊断及完整切除肿瘤是治疗关键.     

下丘脑错构瘤的MRI诊断

目的探讨MRI对下丘脑错构瘤的诊断价值,提高对下丘脑错构瘤的MRI表现和临床表现的认识。资料与方法回顾性分析8例下丘脑错构瘤的MRI和临床表现资料。其中男5例,女3例,年龄1．8-12岁。全部病例在3岁前均出现临床症状,其中2例在6个月前出现症状,临床表现为性早熟7例,痴笑样癫痫4例。8例均行MRI平扫和增强扫描。结果MRI表现为鞍上下丘脑区结节或肿块,直径为9．12mm,呈类圆形、不规则形,均以宽基底附于第三脑室底部、灰结节和乳头体,T1WI上与脑灰质信号一致,T2WI上呈稍高信号,信号均匀,增强后均未见肿块强化。结论下丘脑错构瘤是导致儿童性早熟的常见原因之一,MRI是目前诊断下丘脑错构瘤的最佳影像学方法。     

误诊为肾细胞癌的肾错构瘤临床分析(附5例报告)

目的：分析肾错构瘤(Hamartoma of kidney,HK)的影像学误诊原因,探讨如何避免其误诊。方法：回顾性分析35例HK及其5例误诊为肾细胞癌(RCC)的临床表现及影像学特点。结果：影像学误诊为肾癌5例。B超、CT、MRI和选择性肾动脉造影等检查上有相应的表现。结论：只根据影像学所见可发生误诊,应结合临床表现并综合分析各种影像学检查结果,可提高HK的术前诊断率。     

脾错构瘤

脾错构瘤是一种罕见的良性肿瘤,至1992年底文献记载仅约110例。本文报道1例,女性,59岁,于切除贲门癌时偶然发现。作者描述了此瘤的临床病理学特征,讨论了它的命名、鉴别诊断和发病机制等问题。     

腹腔镜下行肾血管平滑肌脂肪瘤剜除术治疗10例

目的探讨不阻断。肾蒂腹腔镜下行肿瘤剜除术治疗较小。肾血管平滑肌脂肪瘤（RAML）的应用效果。方法采用腹腔镜经腹腔途径在不阻断肾蒂情况下对10例较小RAML（肿瘤直径〈4cm）行肿瘤剜除术,并观察手术时间、术中出血量、术后住院天数和术中术后并发症及手术效果。结果10例手术全部获得成功,平均手术时间为90min,平均出血量80ml,平均术后住院时间为7d,手术效果好,无并发症,随访3—19个月,未见肿瘤转移或复发。结论该术式肿瘤切除精确彻底,创伤小,出血少,恢复快。     

Renal smooth muscle hamartoma

A large (4 cm in diameter) smooth muscle tumor was found in the medial aspect of the right kidney in a 54-year-old Caucasian woman with acute hypertension. Clonality assay (HUMARA) showed no evidence of clonal proliferation, and array comparative genomic hybridization (aCGH) analysis failed to identify any copy number genomic change. These findings are consistent with smooth muscle hamartoma, a rare benign renal tumor-like lesion.