外毛根鞘癌7例临床病理分析

目的探讨外毛根鞘癌(trichilemmal carcinoma,TC)的临床病理学特征、诊断及鉴别诊断。方法回顾性分析7例TC患者的临床资料、组织学形态及免疫表型,并复习相关文献。结果 7例患者年龄22~63岁,平均40.5岁,其中男性4例,女性3例。皮损均发生于头面部,表现为孤立的外生性团块。镜检:肿瘤组织呈分叶状、索条状,主要由不典型的透明细胞组成,以伴有外毛根鞘角化的上皮细胞增生为特征。免疫表型:7例PAS染色,透明细胞均(+),CK5和CK14均(+),CEA、S-100和HMB-45均(-)。7例患者均行手术切除术。6例患者随访1~5年,无复发及转移。结论TC是低度恶性的附属器肿瘤,具有局部侵袭性、基本不复发、转移的特点。诊断依据分叶状结构及外毛根鞘分化特点。手术切除,预后好。需与外毛根鞘瘤及其他透明细胞肿瘤鉴别。     

恶性外周神经鞘瘤52例临床病理分析

目的观察恶性外周神经鞘瘤的临床病理学特征、诊断及鉴别诊断。方法回顾性分析52例恶性外周神经鞘瘤的临床病理学及免疫表型特征并复习相关文献。结果 52例患者中,男女发病率为1∶1,年龄4~71岁,头颈部18例(35%),四肢12例(23%),躯干9例(17%),深部组织8例(15%),椎管内4例(8%),生殖道1例(2%)。镜下肿瘤组织呈束状或漩涡状排列,瘤细胞短纺锤形、卵圆形、梭形,核分裂象易见。免疫表型:瘤细胞局灶表达S-100蛋白,Ki-67增殖指数10%~70%。结论恶性外周神经鞘瘤罕见,侵袭性高,预后差,其组织形态复杂多样,需与滑膜肉瘤、纤维肉瘤、血管外皮瘤、富于细胞性神经鞘瘤、纤维型脑膜瘤以及平滑肌肉瘤等鉴别。     

椎管内富于细胞性神经鞘瘤30例临床病理分析

目的 探讨椎管内富于细胞性神经鞘瘤的临床病理学特征、免疫表型、诊断及鉴别诊断.方法 回顾性分析中国科学技术大学附属第一医院2015～2019年诊断的,30例椎管内富于细胞性神经鞘瘤的临床和病理资料,并复习相关文献.结果 30例中女性21例,男性9例,年龄20～70岁,平均52岁.发病部位:腰椎14例,胸椎2例,颈椎2例...     

丛状神经鞘瘤2例临床病理分析

目的探讨丛状神经鞘瘤的临床病理学特征、诊断及鉴别诊断。方法观察2例丛状神经鞘瘤的临床表现、组织学形态及免疫表型并复习相关文献。结果 2例患者中,男女各1例,年龄分别为16岁和31岁,肿瘤均位于躯干皮肤。镜下见肿瘤在皮下呈多结节状分布,结节内瘤组织以细胞致密区(Antoni A)为主,相对缺乏细胞疏松区(Antoni B)。瘤细胞长梭形或波浪状,呈栅栏状、漩涡状排列,可见verocay小体。免疫表型:肿瘤细胞S-100及vimentin均弥漫阳性,GFAP部分阳性,EMA、CD57及Ki-67均阴性。结论丛状神经鞘瘤是一种较少见的良性周围神经鞘膜瘤,需与丛状神经纤维瘤、丛状纤维组织细胞瘤、丛状恶性外周神经鞘膜瘤等相鉴别。     

骶骨神经源性肿瘤临床病理分析

目的:探讨骶骨神经源性肿瘤的临床病理学特征、诊断及鉴别诊断.方法:收集21例发生在骶骨的神经源性肿瘤,通过光镜观察及免疫组织化学分析其临床、影像学、病理学特征、免疫表型、鉴别诊断及手术预后.结果:21例中女15例,男6例,平均年龄44.9岁.临床上以骶尾部疼痛为主,影像学上表现为骶骨或骶骨及骶前肿块.神经鞘瘤17例,其中经典型神经鞘瘤8例,富于细胞神经鞘瘤9例.神经纤维瘤3例,节细胞神经瘤1例.累及骶骨的肿块,多数有不同程度的骨质破坏.免疫表型:神经鞘瘤均弥漫强阳性表达S-100蛋白,不表达NF.神经纤维瘤和节细胞神经瘤表达NF.富于细胞神经鞘瘤有4例为复发病例,平均复发时间6.5年.经典型神经鞘瘤和神经纤维瘤各有1例为复发病例.结论:骶骨神经源性肿瘤是少见肿瘤,以良性多见.各病理类型及亚型在形态学和生长方式上有一定的差异,故诊断时应明确病理类型及亚型,以供临床随访、治疗.     

15例毛母质癌的临床病理学观察

目的分析毛母质癌的病理形态和生物学行为特点，并阐明其诊断和鉴别诊断要点。方法对１５例毛母质癌进行临床病理学、组织化学和免疫组织化学观察，并复习其临床资料。结果１５例中男６例，女９例。年龄１１～８３岁，平均４６岁。肿瘤大小１．２～８ｃｍ，平均３．５ｃｍ。组织学检查见肿瘤由侵袭性生长的基底样细胞片巢组成，可见鳞状分化细胞、外毛根鞘样透明细胞和影细胞。瘤细胞中可见毛透明质颗粒和毛透明质样嗜酸小体。１３例获得随访。７例术后局部复发，其中２例多次复发。１例死于肿瘤肝转移，１例死于局部扩散。结论毛母质癌是一种易于复发的恶性肿瘤。     

富于细胞性神经鞘瘤30例临床病理分析

目的 探讨富于细胞性神经鞘瘤(cellular schwannoma,CS)的临床病理学特点、免疫表型及鉴别诊断.方法 回顾性分析2014～2020年北京积水潭医院诊治的30例CS的临床及影像学特点、病理学特征及免疫表型等,并复习相关文献.结果 30例CS中,女性22例,男性8例,年龄12～65岁,平均44.6岁.发生...     

隧道型癌：阴茎鳞状细胞癌的一种特殊亚型

疣状肿瘤约占阴茎鳞状细胞癌的三分之一，该肿瘤是一种低度恶性外生性乳头状肿瘤，罕见转移。隧道型癌，作为阴茎鳞状细胞癌的一种特殊亚型，其特征为肿瘤向深部组织穿透，生长方式类似于兔的洞穴。这种低级别疣状阴茎肿瘤类似于1954年Ayrd报道的跖肌穿掘性上皮瘤。隧道型癌也可发生于其它器官和组织。为了研究发生于阴茎的隧道型癌的临床病理学特征、形态学诊断标准和与其它疣状肿瘤的鉴别，作者报道了7例阴茎隧道型癌。患者年龄70～83岁，平均77岁。[第一段]     

卵巢Brenner肿瘤14例临床病理分析

目的探讨卵巢Brenner肿瘤的临床病理学特征、诊断和鉴别诊断。方法回顾性分析9例良性Brenner瘤、1例交界性Brenner瘤、4例恶性Brenner瘤的临床病理资料,并复习相关文献。结果 9例良性Brenner瘤特征是移行细胞型细胞组成的实性或囊性细胞巢,位于纤维瘤样间质内,囊腔内衬移行细胞型细胞、纤毛细胞、黏液细胞、立方细胞或扁平细胞,细胞无异型,细胞核卵圆形,核仁小而明显,部分有明显核沟。1例交界性Brenner瘤与良性Brenner瘤形态相近,但上皮细胞增殖程度超过良性Brenner瘤,细胞巢大小不一,层次增多,细胞轻度异型,但无间质浸润。4例恶性Brenner瘤有明显的间质浸润,并可见良性或交界性Brenner瘤成分。肿瘤细胞明显异型,核大深染,核分裂象易见,其中1例肿瘤累及输卵管和大网膜。免疫表型:14例肿瘤中CK7、p63均呈阳性,GATA-3阳性但部分低分化肿瘤区域失表达,CK20、Pax-8、WT-1均呈阴性,但黏液上皮化生区CK20呈阳性,Ki-67增殖指数恶性浸润区为20%～70%,交界性为3%,良性3%。结论卵巢Brenner肿瘤属于少见的卵巢上皮源性肿瘤,确诊需根据组织病理学特征和免疫表型。肿瘤细胞异型程度和有无间质浸润是良恶性Brenner瘤的鉴别关键。诊断恶性Brenner瘤必须有良性或交界性Brenner成分,与卵巢其他肿瘤的鉴别需结合临床病史、组织学特征和免疫表型。     

颈部胸腺样分化癌2例并文献复习

目的探讨颈部胸腺样分化癌(carcinoma showing thy-mus-like differentiation,CASTLE)的临床病理类型、肿瘤组织来源和鉴别诊断。方法对2例CASTLE进行光镜观察和免疫组化标记,并复习相关文献。结果 2例CASTLE均为女性,中位年龄26.5岁。以颈前包块,声音嘶哑就诊。肿瘤位于颈部软组织和甲状腺内,包膜完整,囊实性。镜检:例1肿物为腮裂样囊肿结构,囊壁见胸腺样组织和甲状腺微小乳头状癌组织。例2肿物在甲状腺内呈岛状、巢状分布,岛间有纤维分隔,瘤细胞梭形、合体样,可见胸腺小体样结构,并向鳞状上皮分化,形似鳞状细胞癌。间质伴淋巴细胞浸润,形似甲状腺髓样癌。结论 CASTLE是一类具有良、恶性胸腺上皮样肿瘤结构的甲状腺恶性肿瘤。良性胸腺上皮样特征可表现为胸腺样囊肿,并可向甲状腺微小乳头状癌分化;恶性胸腺上皮样特征多类似甲状腺鳞癌或甲状腺髓样癌,易误诊。结合肿瘤部位、病理学特征及免疫组化CD5、CD117、CK19检测有助鉴别。     

Malignant change in trichilemmal cysts: a study of cell proliferation and DNA content

We have examined proliferative activity in a series of pilar and trichilemmal cysts using an antibody to proliferating cell nuclear antigen. In benign lesions proliferative activity was confined to the basal layers of the squamous epithelium. Lesions showing malignant change showed increased proliferative activity and were not confined to the basal layer. These findings were correlated with studies on DNA content using flow cytometry.     

Fine‐needle aspiration cytology in the diagnosis of malignant proliferating trichilemmal tumor: Report of a case and review of the literature

Malignant proliferating trichilemmal tumor is a rare cutaneous neoplasm derived from the outer root sheath of the hair follicle. Fine‐needle aspiration cytology is being increasingly used in the investigation of primary and metastatic cutaneous tumors. However, there are few reports on the cytology of trichilemmal tumors in the literature. We describe the cytological features of this uncommon adnexal tumor presenting as a scalp mass in a 58‐year‐old woman. In view of its aggressive biological behavior, it is crucial for cytologists to be aware of this rare lesion and distinguish it from primary cutaneous squamous‐cell carcinoma. The differences on fine‐needle aspiration cytology can be subtle and pose problems in diagnosis. Diagn. Cytopathol. 2009. © 2009 Wiley‐Liss, Inc.     

Proliferating trichilemmal tumour: p53 immunoreactivity in association with p27Kip1 over-expression indicates a low-grade carcinoma profile

AIMS: Alterations of cell-cycle regulatory molecules in tumorigenesis may predict the biological behaviour of neoplasms and greatly contribute to their proper classification. Since the behaviour of proliferating trichilemmal tumour (PTT) is controversial, we decided to explore the possible significance of altered p53 and p27Kip1 immunohistochemical expression patterns in PTT. METHODS AND RESULTS: We evaluated the percentage and distribution of positive tumour cells and compared the results with those obtained from usual trichilemmal cysts (TC) and squamous cell carcinomas with trichilemmal differentiation (SCCT). PTT showed p53 immunoreactivity (50.4 +/- 29.6, mean +/- standard deviation) that was not statistically different from that seen in SCCT (75.2 +/- 36.3). On the other hand, p53 immunostaining was virtually absent in TC cases (positivity for p53 was observed in only one instance in < 1% of cells). As for p27Kip1, the mean percentage of positive cells in PTT (82.7 +/- 9.9) was slightly lower than in TC (90.6 +/- 4.6) but significantly higher than in SCCT (53.4 +/- 30). CONCLUSIONS: The similar p53 immunoreactivity in both PTT and SCCT favour the interpretation of the former as carcinoma, albeit one whose behaviour would be tempered by the well-known regulatory effect exerted by p27Kip1 on the cell cycle.     

BRAF mutations are associated with some histological types of papillary thyroid carcinoma

Mutations in the BRAF gene have recently been detected in a wide range of neoplastic lesions with a particularly high prevalence in melanoma and papillary thyroid carcinoma (PTC). The hot-spot mutation BRAF(V599E) is frequently detected in PTC (36-69%), in contrast to its absence in other benign or malignant thyroid lesions. In order to unravel whether there is any association between the occurrence of the BRAF mutation and the histological pattern of PTC, in this study a previous series of 50 PTCs was extended to 134 cases, including ten cases of PTC-related entities-hyalinizing trabecular tumour (HTT) and mucoepidermoid carcinoma (MEC). Using PCR/SSCP and sequencing, the BRAF(V599E) mutation was detected in 45 of the 124 PTCs (36%). No mutations were detected in any case of HTT and MEC. BRAF(V599E) was present in 75% of Warthin-like PTCs and 53% of conventional PTCs, whereas no BRAF(V599E) mutations were detected in any of the 32 cases of the follicular variant of PTC. BRAF(V599E) was also detected in 6 of 11 cases of the oncocytic variant of PTC that displayed a papillary or mixed follicular-papillary growth pattern and in none of the four oncocytic PTCs with a follicular growth pattern. A distinct mutation in BRAF (codon K600E) was detected in three cases of the follicular variant of PTC. This study has confirmed the high prevalence of BRAF(V599E) in PTC and has shown that the mutation is almost exclusively seen in PTC with a papillary or mixed follicular-papillary growth pattern, regardless of the cytological features of the neoplastic cells. The results support the existence of an oncocytic variant of PTC that should be separated from the oncocytic variant of follicular carcinoma and suggest that the follicular variant of PTC may be genetically different from conventional PTC.     

甲状腺乳头状癌中TROP-2表达的临床意义及其诊断价值

目的观察人类滋养层细胞表面抗原2(TROP-2)在甲状腺乳头状癌(papillary thyroid carcinoma,PTC)中的表达,探讨TROP-2在PTC中表达的临床意义及其诊断价值。方法采用免疫组化EnVision法检测100例甲状腺恶性病变(PTC 75例、滤泡性癌10例、髓样癌10例、差分化癌5例)、45例良性病变(正常甲状腺10例、结节性甲状腺肿10例、桥本甲状腺炎15例、滤泡性腺瘤10例),5例具有乳头样核特征的非浸润性甲状腺滤泡性肿瘤(non-invasive folliculaRthyroid neoplasms with papillary-like nucleaRfeatures,NIFTP)中TROP-2的表达;ARMS法检测PTC中BRAF V600E基因突变。分析TROP-2对PTC诊断的敏感性和特异性,及其与PTC临床病理特征以及BRAF V600E基因突变的关系。结果TROP-2在PTC中的阳性率为81.3%(61/75),在其他甲状腺恶性肿瘤和良性病变中均阴性,TROP-2对PTC诊断的敏感性为81.3%,特异性为100%。TROP-2表达与PTC淋巴结转移有关(P<0.05),与患者年龄、性别、肿瘤部位及临床分期无关(P>0.05),经典型PTC中TROP-2表达高于滤泡亚型PTC(P<0.05)。PTC中TROP-2表达与BRAF V600E基因突变呈正相关(P<0.05)。结论TROP-2是一种具有高度特异性和敏感性的诊断PTC的标志物,TROP-2检测可预测PTC的临床生物学行为和BRAF V600E基因突变状态,并对于形态学变形的PTC、微小型PTC和PTC的甲状腺内扩散的诊断和识别具有重要价值。     

Ultrasonographic Characteristics of the Follicular Variant Papillary Thyroid Cancer According to the Tumor Size

Follicular variant papillary thyroid cancer (FVPTC) is the second most common subtype after conventional PTC. We compared ultrasonographic (US) features of FVPTC to those of conventional PTC according to tumor size. We reviewed US findings, pathologic reports, and medical charts of 249 PTC patients with surgically proven disease (83 FVPTCs, 166 conventional PTCs) at our institution from January 2007 to December 2012. FVPTCs were divided into PTC-like and follicular neoplasm (FN)-like based on sonographic characteristics. PTC-like features were defined as having at least one malignant feature (taller-than-wide shape, infiltrative margin, marked hypoechogenicity, and micro-calcifications), whereas FN-like cancers showed oval solid features without malignant features. FVPTCs showed a higher rate of FN-like features than conventional PTCs. Of 166 conventional PTCs, 13 (7.8%) had FN-like features and 153 (92.2%) had PTC-like features, whereas of the 83 FVPTCs, 31 (37.3%) had FN-like features and 52 (62.7%) had PTC-like features. Macro-FVPTCs showed a higher rate of FN-like features than micro-FVPTCs (P < 0.001). Of 21 macro-FVPTCs, 18 (85.7%) had FN-like features and 3 (14.3%) had PTC-like features, whereas of the 62 micro-FVPTCs, 13 (21%) had FN-like features and 49 (79%) had PTC-like features. There were no differences in multifocality, extrathyroidal invasion, and lymph node metastasis between PTC-like FVPTCs and FN-like FVPTCs. FVPTCs showed fewer sonographic malignant features than conventional PTCs. In particular, FVPTCs larger than 1 cm had a more frequent benign sonographic appearance. Therefore, if fine-needle aspiration result is suspicious for PTC in a nodule larger than 1 cm with no suspicious US features, the possibility of FVPTC might be considered.     

Malignant proliferating trichilemmal tumor

Proliferating trichilemmal tumor (PTT) is a rare distinctive lesion that usually occurs in the scalp of elderly women. About 40 cases of malignant PTTs have been reported. Alternatively, some authors have proposed that all PTT are squamous cell carcinomas. We report a case of a malignant PTT on the scalp in 44-year-old man. Clinical features and histological criteria for diagnosis of malignant versus benign PTT are discussed.     

甲状腺乳头状癌RET、CK19、TG、Ki-67的表达

目的 研究甲状腺乳头状癌RET、CK19、TG、Ki-67蛋白表达特点及其临床意义。方法 应用免疫组织化学SP法检测RET、CK19、TG、Ki-67蛋白在30例甲状腺乳头状癌、10例结节性甲状腺肿和18例癌旁正常甲状腺中的表达。结果 RET、CK19在乳头状癌的阳性率（66．7％、83．3％）明显高于结节性甲状腺肿和正常甲状腺阳性率（7．1％、25．0％）,两者差异有显著性（P〈0．01）。乳头状癌组及良性病例组TG表达阳性率差异无显著性（P〉0．05）。96．7％的乳头状癌Ki-67阳性细胞数小于10％。结论 RET及CK19在甲状腺乳头状癌表达增加,具有一定的病理诊断价值。     

Proliferating trichilemmal tumours

Twelve cases of a peculiar, relatively uncommon, benign but locally invasive proliferating trichilemmal tumours are reported. The origin of these tumour appears to be outer root sheath of hair. In order to avoid an erroneous diagnosis of squamous cell carcinoma, an adequate knowledge of these tumours is necessary.     

Multicentric encapsulated papillary oncocytic neoplasm of the thyroid: A case diagnosed by a combined cytological, histological, immunohistochemical, and molecular approach

Fine-needle aspiration (FNA) diagnosis of oncocytic lesions is challenging. In fact, oncocytic changes occur in inflammatory, hyperplastic, and neoplastic settings, including both benign and malignant tumors. The rare oncocytic variant of papillary thyroid carcinoma (PTC), shows papillae composed by cells with large oncocytic granular cytoplasm featuring clear PTC nuclear features. A morphological similar, but biologically distinct lesion, is the encapsulated papillary oncocytic neoplasia. Here, we first report on FNA, its cytological features together with histological, immunohistochemical, and molecular correlates.