成人肝错构瘤恶变血管肉瘤1例

1．临床资料:患者女性,33岁,因右上腹胀痛,发现肝脏多发占位8年,出现腹水半年入院。患者无肝炎后肝硬化病史。8年前因右上腹胀痛查CT示多发占位,行肝穿刺活检为肝     

Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome

Patients with PTEN Hamartoma Tumour Syndrome (PHTS) are at increased risk of developing cancer. Many adult PHTS patients are not recognized as such and do not receive the cancer surveillance they need. Our aim was to define phenotypic characteristics that can easily be assessed and manifest by early adulthood, and hence could serve as red flags (i.e. alerting signals) for early recognition of adult patients at high risk of PHTS. Phenotypic characteristics including macrocephaly, multinodular goitre (MNG), and oral features were examined in 81 paediatric and 86 adult PHTS patients by one of two medical experts during yearly surveillance visits at our Dutch PHTS expert centre between 1997 and 2020. MNG was defined as signs of thyroid nodules and/or goitre. Oral features included gingival hypertrophy, high palate (adults only) and oral papillomas. Based on the characteristics’ prevalence in different age groups, combinations of phenotypic characteristics were defined and evaluated on their potential to recognize individuals with PHTS. Macrocephaly was present in 100% of paediatric and 67% of adult patients. The prevalence of MNG was ∼50% in paediatric and gradually increased to >90% in adult patients. Similar percentages were observed for any of the oral features. Scoring two out of three of these characteristics yielded a sensitivity of 100% (95%CI 94–100%) in adults. The presence of the combination macrocephaly, MNG, or multiple oral features could serve as a red flag for general practitioners, medical specialists, and dentists to consider further assessment of the diagnosis PHTS in adults. In this way, recognition of adult PHTS patients might be improved and cancer surveillance can be offered timely.     

Tuberin Expression in Ganglioglioma

The expression of tuberin in neurosurgically resected gangliogliomas was investigated. Neither neoplastic astrocytes nor abnormal, multipolar large neurons showed immunoreactivity for tuberin. The reduced immuno-histochemical staining for tuberin was consistent with the reduction observed in Western blot analysis. Eosinophilic granular bodies and Rosenthal fibers were strongly immunoreactive for tuberin. The accumulation of tuberin in astrocytes with intracellular degenerative changes suggests increased expression in reactive cells, and perhaps a broader role for tuberin in central nervous system disease.     

肺错构瘤的多层螺旋CT诊断

目的分析肺错构瘤的CT表现,并提高其诊断准确性。方法 31例由病理证实的肺错构瘤患者均经16层螺旋CT胸部平扫与增强扫描。对所有患者肿瘤病灶的部位、形态、大小、数目及强化特征,进行了回顾性总结分析。结果 CT扫描证实,25例(81%)的错构瘤是肺内型,其中包括24例孤立型和1例多发型,4例合并周围型肺癌。另外6例(19%)的错构瘤是支气管腔内型。绝大多数(30/31)患者的肿瘤CT表现是以边缘光滑锐利的圆形或卵圆形、直径小于3 cm的肿块影为特征。此外,还可看到其他或多或少的伴发征象,诸如,规则的圆形或卵圆形结节(58%),不规则形结节(48%),软组织密度结节影(55%),钙化影(35%),以及脂肪密度影(13%)。在对比增强CT像上,所有错构瘤病灶均表现为轻度强化(强化值小于30 HU)。结论除钙化及脂肪密度外,边界清晰及增强后轻度强化是诊断肺内型错构瘤的重要依据。而支气管腔内结节出现钙化或脂肪密度则高度提示支气管腔内型错构瘤。     

下丘脑错构瘤的MR诊断与临床表现

目的：分析下丘脑错构瘤的MRI表现,探讨其临床表现、病理及MRI表现的关系,以提高对本病的认识。方法：回顾性分析了14例下丘脑错构瘤的MR及临床资料,其中男6例,女8例,年龄1～37岁。均进行了MR常规扫描和增强扫描,均经病理证实。结果：14例病灶中以宽基底附于第三脑室底部、灰结节和乳头体者6例,有＂蒂＂错构瘤6例,1例位于鞍背后方,1例异位于视交叉上方,所有病例均呈等T1WI信号,等或稍长T2WI信号,信号较均匀,边界较清晰。结节状或类圆形者9例,不规则形5例。直径〈15mm者10例,〉15mm者4例,最大直径2.9cm。2例有明显占位效应,向上压迫三脑室,向前压迫垂体柄或视交叉。结论：当患者出现性早熟和（或）痴笑样癫痫为主的临床表现,MRI显示灰结节和乳头体肿块并典型信号改变且无明显强化时,应首先考虑本病。     

Breast hamartoma: A report of 14 cases of an under-recognized and under-reported entity

ObjectivesMammary hamartoma is a rare benign lesion accounting for approximately 4.8% of all benign breast masses. It is often underdiagnosed and therefore is underreported mostly due to lack of awareness of the characteristic clinical and histological features. Raising awareness of this poorly recognized benign entity is of utmost significance as it clinically mimics other breast tumors including both benign and malignant ones. This study is to report and present our experience of breast hamartomas from Johns Hopkins Aramco Healthcare in the Eastern province of Saudi Arabia from which there have not been previous studies in literature.MethodA retrospective review of our pathology files was done from 1994 to 2014 for cases diagnosed as breast hamartoma during this 20 year period.ResultsA total of 14 cases with diagnosis of breast hamartoma were identified in our institute. Histologically the lesion is mostly sharply demarcated showing a mixture of varying proportions of fibrous, adipose, and glandular tissue. 13 cases were seen in females (93%) and only one rare occurrence in a male patient (7%). The age ranges quite vastly from 18 to 51 years (mean 33 years). Two-third of these lesions were seen involving the right breast (9 cases/64.3%) and only one-third in the left side (5 cases/35.7%). 13 out of 14 patients had a well circumscribed lesion (92.9%) while only 1 case showed irregular borders (7.1%). The size varied from 1.4 to 9.5 cm. Three cases (21.4%) showed evidence of myoid differentiation, a histopathologic variance which is important to identify however has no clinical significance. 3 cases had associated epithelial ductal hyperplasia of the usual type varying from mild (2 cases) to moderate (1 case); with two of these cases exhibiting additional features of fibrocystic mastopathy including adenosis, apocrine metaplasia, and cyst formation. None of our cases showed any malignancy or pseudoangiomatous stroma hyperplasia (PASH).     

应用最大似然法鉴别诊断周围型肺癌、肺错构瘤和结核球的初步研究

目的:探讨应用最大似然法鉴别周围性肺癌、肺错构瘤及结核球3种孤立性肺结节(SPN)的诊断价值。方法:对150例经临床和手术病理证实的SPN(周围性肺癌、肺错构瘤、结核球各50例)的HRCT影像学征象进行分类统计分析,运用最大似然判别法,将其各种征象转化为记分值,以数值的大小来判定肺结节所属的类型。结果:最大似然法对周围型肺癌、肺错构瘤及结核球的诊断正确率分别为86%、92%及90%,平均诊断正确率为89.3%,高于常规阅片法的82%,但两组间差异无统计学意义(χ2=2.434,P>0.05)。最能提示为肺癌的征象依次为空泡征、分叶征、支气管充气征和血管集束征;最能提示为肺错构瘤的征象依次为脂肪、边缘清楚及钙化;最能提示为结核球的征象依次为空洞、卫星灶、钙化及胸膜凹陷征。结论:最大似然法对常见SPN的鉴别诊断正确率有所提高,是一种辅助影像学诊断的有价值的方法。     

Mammary hamartoma

For many years, mammary hamartoma was considered to be an under-diagnosed disease. However, with the increasing use of diagnostic procedures in breast tumors (mammography, ultrasound, fine needle aspiration cytology and core needle biopsy), diagnosis of this entity has increased. Mammary hamartomas normally manifest as painless, mobile, palpable lumps without adherence to skin or muscle. Mammography shows well-circumscribed tumors, separated from adjacent normal breast tissue. Macroscopically they are well-defined tumors, consisting of benign mammary glandular tissue, fibrous stroma and fat in variable proportions, sometimes with a pseudoencapulation. Because of the lack of cytological and architectural specificity of hamartomas, correlation between clinical manifestations, imaging techniques and histology is essential. This report describes a case of an 11-cm mammary hamartoma in a 46-year-old woman.     

乳腺肌样错构瘤24例临床病理分析

背景与目的 乳腺肌样错构瘤（MHB）是乳腺错构瘤中极为罕见的亚型,文献中以个案报道为主,目前对其临床与病理学特征认识尚不足,容易漏诊或误诊。为提高对该病的认识,笔者报告1例MHB患者的临床资料,并结合国内学者报告的23例MHB,探讨其组织发生、临床病理特征、临床诊断、治疗及预后。方法 对三峡大学附属仁和医院收治的1例MHB及国内文献报道的23例MHB进行回顾性临床病理分析。结果 患者均为女性,发病年龄19~65岁,平均（37±12.3）岁。24例均为单发性肿瘤,其最大直径范围1.9~10.0 cm,平均（2.9±1.94）cm。笔者报告的1例在全组肿瘤中体积最大（直径10 cm）,其占笔者单位20年来受检的1 849例乳腺病理活检标本的0.05%和893例乳腺良性肿瘤的0.1%。影像学检查显示,所有肿瘤均可显示界限清楚的肿块,但图像不具特征性;B超引导下芯针活检有一定诊断价值。肉眼观察显示,均为界限清楚、可活动的无痛性乳腺包块或结节,类似纤维腺瘤。14例（58.3%）有临床诊断记录,但均被误诊为或考虑为乳腺纤维腺瘤。21例（87.5%）行单纯乳腺肿块切除术,3例（12.5%）行乳腺肿块扩大切除术。组织病理学结果显示,肿瘤均由乳腺导管、腺泡和纤维脂肪组织以不同比例随机混合组成;肿瘤内可见特征性平滑肌组织或肌样细胞,分化良好。免疫表型分析显示,肿瘤内平滑肌成分desmin、α-SMA、vimentin、MSA和h-caldesmon呈弥漫性强阳性。20例（83.3%）术后平均随访（18.6±15.4）个月,1例于术后10个月复发,1例于术后36、41个月2次复发,余无复发。结论 MHB是罕见的良性肿瘤,误诊率高。临床医师需增强对MHB的了解和诊断意识。临床和病理诊断中需与乳腺纤维腺瘤等相关肿瘤和瘤样病变鉴别。MHB可复发,治疗应采用广泛局部切除并确保切缘阴性,术后需定期随访。