肛管直肠恶性黑色素瘤7例临床病理学分析

目的探讨肛管直肠恶性黑色素瘤的临床病理特征。方法收集7例肛管直肠恶性黑色素瘤的临床病理资料并随访,分析其临床和病理组织学特征和免疫表型。结果本例中包含女性5例,男性2例,年龄50~68岁,平均61岁。肿瘤位于直肠下端1例,齿线附近2例,肛管肛缘4例。该肿瘤组织结构和细胞形态有多样性。组织结构上主要为弥漫片状、巢状、腺泡状。细胞形态主要为上皮样、梭型细胞样、淋巴细胞样。免疫组织化学检测显示肿瘤细胞HMB45、S-100和vimentin强阳性,LCA、CK和EMA均阴性,其中2例CEA灶性阳性,Ki-67 LI为20%~50%。结论肛管直肠恶性黑色素瘤是少见的恶性肿瘤,其特征性的组织形态、免疫表型有助于诊断和鉴别诊断。     

肛管直肠恶性黑色素瘤14例临床病理学分析

目的探讨肛管直肠恶性黑色素瘤的临床及病理学特点。方法对14例肛管直肠恶性黑色素瘤的临床特点、免疫组织化学染色及分子病理学特点进行分析, 并复习相关文献。结果 14例患者, 男女各7例, 年龄52～88岁, 平均年龄69岁。肿瘤肉眼观呈息肉样或溃疡型改变。镜下肿瘤细胞排列方式多样, 大多呈巢状排列, 部分围绕血管呈假菊形团样排列, 梭形细胞呈条束状及鱼骨状排列;肿瘤细胞形态丰富, 细胞呈上皮样、梭形及气球样改变, 部分区域失黏附, 胞质嗜双染或嗜酸性, 核分裂象多见, 细胞异型性显著, 染色质粗糙, 核仁明显, 部分肿瘤细胞中可见黑色素沉着。免疫组织化学染色14例HMB45、S-100蛋白、SOX10及Melan A均为阳性。分子检测14例患者中有1例发现C-KIT基因第11号外显子存在c.1659₁660insA移码突变, 14例患者均未发现BRAF及NRAS突变。14例患者随访时间为20～95个月, 10例存活, 1例复发及3例发生转移的患者死亡。结论直肠肛管恶性黑色素瘤因缺乏特异的临床表现容易漏诊, 确诊依赖HE形态及免疫组织化学染色, 本组中1例患者发现C-...     

原发性宫颈恶性黑色素瘤临床病理观察

目的探讨原发性宫颈恶性黑色素瘤的临床病理特征、鉴别诊断及预后。方法对5例宫颈恶性黑色素瘤通过光镜、免疫组化进行观察和分析,并随访。结果5例平均43．4岁,临床表现为不规则阴道出血或排液,妇检示宫颈菜花状或黑色结节状肿物;镜检示肿瘤细胞异型性大,细胞形态多样,表现为痣样细胞、上皮细胞、梭形细胞或混合细胞。免疫表型：HMB45、Melan—A（MART-1）、tyrosinase、S-100蛋白、vimentin均阳性表达。结论原发性宫颈恶性黑色素瘤恶性程度高,预后差。HMB45、Melan—A（MART-1）、S-100蛋白对恶性黑色素瘤有着重要意义,需要注意与癌、癌肉瘤、淋巴瘤或绒癌相鉴别。     

胆囊原发性恶性黑色素瘤1例及文献复习

目的探讨胆囊原发性恶性黑色素瘤的I临床病理特征、组织发生及鉴别诊断。方法对1例原发于胆囊的恶性黑色素瘤进行光镜观察,并行组织化学及免疫组化染色标记。结果组织学特征为：在上皮和固有层交界处黑色素肿瘤细胞呈巢状或片状分布,肿瘤细胞大小不等,形态多样。瘤细胞内外可见粗大的黑色素颗粒,Masson—Fontana染色阳性,免疫表型HMB45、vimentin及S-100蛋白肿瘤细胞呈阳性表达。结论胆囊原发性恶性黑色素瘤罕见,诊断必须结合病史、全身检查及随访资料,以排除转移性恶性黑色素瘤。     

原发性肝脏恶性黑色素瘤1例并文献复习

目的 探讨原发性肝脏恶性黑色素瘤患者的临床病理学特征、诊断、鉴别诊断、治疗方法和预后.方法 报道1例原发性肝脏恶性黑色素瘤,对其进行光镜观察、免疫组织化学染色,并复习相关文献,探讨该病的临床病理学特点.结果 肿瘤位于肝脏右叶,浸润性生长.组织学上可见肿瘤细胞呈结节状或巢状分布,并见少量黑色素沉积,细胞呈圆形、卵圆形、多角形或梭形,细胞界清,胞质丰富,核大深染,可见1～2个大的核仁.免疫表型:肿瘤细胞HMB45、S-100、vimentin、Melan-A呈强阳性表达,Ki-67增殖指数35%,肿瘤细胞不表达CKpan、EMA、CEA、低分子量CK、高分子量CK、CK7、CK8、CK19、CD34、AFP、CD45、ALK、CD117、Dog-1、actin、α-SMA、h-caldesmon、CD68、CD163、Syn、CgA.病理诊断:原发性肝脏恶性黑色素瘤.结论 原发性肝脏恶性黑色素瘤是一种罕见的高度恶性肿瘤,临床与病理均要与转移性肝脏恶性黑色素瘤、肝脏低分化癌、转移癌、淋巴瘤等相鉴别,预后不良.     

鼻腔恶性黑色素瘤的光镜、电镜及免疫组化研究

目的 探讨鼻腔恶性黑色素瘤的临床病理、免疫组化和超微结构特点.方法 对32例鼻腔黑色素瘤进行临床和病理(HE染色、免疫组织化学染色和电镜)资料观察.结果 临床症状为进行性鼻塞和或鼻衄,6例伴有轻重不等的头痛.12例临床诊断为鼻息肉、鼻窦炎,16例诊断为鼻肿瘤,4例诊断为恶性黑色素瘤.治疗为手术加放、化疗综合手段.生存时间为3-65个月.组织学特征为:黑色素瘤组织结构既有象癌的组织像,又有似肉瘤的组织像,肿瘤细胞大小不一,形态多样,部分病例瘤细胞内外可见粗大的黑色素颗粒.4例电镜检查各种瘤细胞胞浆内均可见数量不等的圆形或椭圆形黑色素小体.免疫组化阳性率分别为HMB4590.6%、S-100100%、Vim71.9%、CK21.1%、EMA8.3%,LCA及Actin不表达.结论 鼻腔性黑色素瘤是一种少见的肿瘤,其生存期短,恶性度高.根据其组织学特点,结合免疫组化染色及电镜下特征,可以作出明确的病理诊断.     

原发皮肤“消退性”恶性黑色素瘤的临床病理特征

目的 探讨原发皮肤“消退性”恶性黑色素瘤的临床病理特点、预后和鉴别诊断.方法 收集2009至2012年间原发皮肤“消退性”恶性黑色素瘤8例,总结临床病理、治疗和随访资料.常规HE染色和免疫组织化学EnVision法染色行组织病理形态学观察.结果 患者年龄40 ～ 69岁(平均58岁),男女比3∶1,发生部位分别为背部4例,足底2例,足趾腹面1例,上臂1例.临床上,6例初始表现为逐渐增大的皮肤黑斑,随后出现局部区域皮损颜色变浅并扩大,最终可呈瘢痕样.2例表现为散在簇状分布多灶黑点黑斑.组织学上,完全消退型3例,其中1例表现为肿瘤样黑变病.广泛消退型5例,消退比例达75％ ～ 90％,大部分区域示完全消退期图像,局部区域呈消退进行期改变,Breslow厚度0.5 ～1.0 mm.免疫组织化学标记显示淋巴结内转移灶和广泛消退型原发灶内残留的少量黑色素瘤细胞均弥漫强阳性表达S-100蛋白、HMB45和Melan A.吞噬黑色素的组织细胞CD68阳性.8例均获得随访,随访时间8～ 27个月(中位时间13个月),5例无瘤生存;3例发生远处转移,其中1例带瘤生存,2例死亡.结论 消退性恶性黑色素瘤是一种好发于中老年人罕见的特殊类型的黑色素瘤,诊断时应综合临床病史和病理学改变.消退≥75％是T1期(Breslow厚度≤1 mm)恶性黑色素瘤预后的一个不利因素,建议行病灶局部广泛切除术同时予以前哨淋巴结活检.     

5例食管原发性恶性黑色素瘤临床病理分析

目的:分析食管原发性恶性黑色素瘤(primary malignant melanoma of the esophagus,PMME)的病理诊断特点、鉴别诊断、生物学行为及预后.方法:收集安阳市肿瘤医院5例PMME,对其进行光镜观察、免疫组织化学染色、临床病理分析并进行随访.结果:PMME多见于中老年人,常发生于食管中段,大体呈蕈伞型.光镜下瘤细胞异型性明显,呈梭形、卵圆形或不规则形,以梭形细胞为主.肿瘤细胞胞核体积大,核仁清晰、染色质丰富.瘤细胞形态多样且无色素易误诊为分化差的鳞状细胞癌、肉瘤样癌、淋巴瘤等.免疫组织化学结果肿瘤细胞显示vimentin,S-100,HMB-45和Melan-A阳性;不表达神经特异性烯醇化酶(neuron-specific enolase,NSE)、白细胞共同抗原(leukocyte common antigen,LCA)、细胞角蛋白(cytokeratin,CK)、嗜铬素蛋白-A(chromogranin proteins A,CgA)和突触素(syn).随瘤细胞浸润不同组织层次可伴有淋巴结转移.结论:PMME是一种罕见肿瘤,恶性度高、预后差.由于其症状与食管其它肿瘤相似,在活检或手术前很难确诊,对发生于中老年人的食管中段蕈伞型肿物应考虑原发性恶性黑色素瘤的可能.临床病理分析肿瘤大小、浸润层次、淋巴结转移及治疗方式可能影响预后.     

黑色素瘤优先表达抗原免疫组织化学染色在良恶性皮肤黑色素细胞肿瘤鉴别中的应用

目的探讨黑色素瘤优先表达抗原(PRAME)免疫组织化学染色在良恶性皮肤黑色素细胞肿瘤鉴别中的应用价值。方法收集北京大学第三医院病理科2018年10月至2020年12月间常规及会诊确诊的黑色素瘤病例59例(皮肤原发性黑色素瘤50例, 转移性黑色素瘤9例), 黑色素细胞痣48例(普通型痣40例, 非典型性痣8例), 进行PRAME免疫组织化学染色, 比较黑色素瘤和黑色素细胞痣中PRAME免疫组织化学表达的差异。结果皮肤原发性黑色素瘤患者50例, 男性23例, 女性27例;年龄33～87岁(平均年龄62.4岁, 中位年龄64.5岁)。转移性黑色素瘤9例, 男性7例, 女性2例;年龄40～82岁(平均年龄64岁, 中位年龄65岁)。26例(26/50, 52.0%)皮肤原发性黑色素瘤和4例(4/9)转移性黑色素瘤均表现为PRAME弥漫阳性;40例(40/40, 100%)普通型痣和8例(8/8)非典型性痣均表现为PRAME阴性。黑色素瘤组中PRAME弥漫阳性病例数所占比例显著高于黑色素细胞痣组(P<0.05)。本组病例中, PRAME鉴别良恶性皮肤原发性黑色素细胞肿瘤的灵敏度和特异度分别...     

42例肛管直肠恶性黑色素瘤病理及免疫组织化学研究

报告４２例肛管、直肠恶性黑色素瘤，占同期肛管直肠恶性肿瘤的１．１９％。临床表现以大便带血、肛门肿物及肿块突出肛门为特征。９０％以上肿物位于齿状线附近。巨检分三型：蕈伞型，结节型、溃疡型。组织学既像癌又像肉瘤，几种细胞混存而以一种为主，形态观察支持“恶黑”起源于表皮基底层黑色表细胞和闱细胞，免疫标记提示黑色素细胞起源于神经嵴。Ｓ－１００蛋白诊断“恶黑”敏感，但特异性不强，多种抗体联用，能提高诊断的准     

DMBT1 expression distinguishes anorectal from cutaneous melanoma

Aims:  Anorectal melanoma (AM) forms a rare but highly malignant subset of mucosal melanoma with an extremely poor prognosis. Although AMs display histological and immunohistochemical features very similar to cutaneous melanoma (CM), no association exists either with exposure to ultraviolet light or with melanocytic naevi. While AMs are clearly distinguished from CM by displaying few BRAF mutations, they are commonly indistinguishable from CM at the level of gene expression. The aim was to carry out expression analyses of classical immunohistochemical markers and of the protein deleted in malignant brain tumours 1 (DMBT1) in cases of primary anorectal malignant melanoma and CM.
Methods and results:  Expression analyses of classical immunohistochemical markers (S100, HMB45, Melan A and MiTF) and of the protein DMBT1 were carried out in 27 cases of primary anorectal malignant melanoma and 26 cases of CM. All AM cases analysed showed expression of at least three of the classical markers for melanoma. However, immunohistochemistry showed 19 out of 27 AM to be positive for DMBT1, which represented a statistically significant difference ( P  = 0.0009) compared with CM (six out of 26), which more commonly are negative for DMBT1 expression.
Conclusion:  These results identify DMBT1 as a molecular feature that may allow distinction between AM and CM and support the notion that AM represents an entity molecularly distinct from CM.     

Anorectal malignant melanoma: morphologic and immunohistochemical features

We reviewed 17 cases of primary anorectal malignant melanoma. Morphologic features evaluated included junctional change, pigmentation, morphology, and mitotic rate. Immunohistochemical stains were performed for/with S-100 protein, HMB-45, MelanA, tyrosinase, vimentin, KIT, and pankeratin. Morphologic subtypes were as follows: epithelioid, 12 cases; spindle cell, 7 cases; lymphoma-like, 10 cases; and pleomorphic, 6 cases. Pigmentation was present in 9 cases. Junctional change was present in 6 cases. The mitotic rate was 3 or more per high-power field in 8 cases. S-100 protein was present in all cases, HMB-45 stained 16 of 17, MelanA was present in 14 of 15, tyrosinase in 12 of 14, vimentin in 13 of 14, and KIT in 12 of 16. Pankeratin was absent in all cases. The mean length of follow-up was 25.6 months (range, 8-96 months), and the average survival with disease was 32.3 months (range, 8-96). No morphologic or immunohistochemical features were predictive of survival. Anorectal malignant melanoma shows considerable morphologic variability. Immunohistochemical staining is similar to cutaneous melanomas. Expression of KIT was present frequently, including cases with spindle cell morphologic features, in which it may lead to confusion with gastrointestinal stromal tumors.     

Laparoscopic abdomino-perineal resection for patients with anorectal malignant melanoma: a report of 4 cases

Anorectal malignant melanoma is a very rare but lethal disease. Patients with anorectal malignant melanoma commonly complain for changes in bowel habits and rectal bleeding. Therefore, anorectal malignant melanoma is often misdiagnosed as hemorrhoids, polyp or rectal cancer. Surgery is the mainstay of treatment for patients with anorectal malignant melanoma. However, whether abdominoperineal resection or wide local excision is the most appropriate surgical approach is still a controversial issue. Recently, with the great development of laparoscopic techniques, more and more operations can be performed by laparoscopic techniques. However, laparoscopic abdom-inoperineal resection for management of anorectal malignant melanoma has been rarely reported. In this study, we reported 4 patients with anorectal malignant melanoma underwent laparoscopic abdominoperineal resection. The outcomes of these patients were relatively good during a long time follow-up. Meanwhile, we reviewed the relevant studies with particular focus surgical treatment.     

Primary malignant melanoma of the transverse colon: report of a case and review of the literature

Gastrointestinal involvement by malignant melanoma is predominantly a metastatic phenomenon. Although primary malignant melanoma of the gastrointestinal tract has been documented in the esophagus, stomach, small bowel, and anorectum, the incidence of primary melanoma of the colon is rare and remains controversial in most cases. We present a case of solitary malignant melanoma of the transverse colon occurring in a 64-year-old African American male patient. Complete dermatologic and ophthalmologic examinations revealed no evidence of a cutaneous or an ocular primary lesion. Microscopic examination of the resection specimen revealed malignant melanoma, which was confirmed by immunohistochemical positivity for S100 and melan-A. We believe that this tumor represents a primary colonic malignant melanoma.     

Primary anorectal mucosal melanoma detected by anorectal cytology

The detection of primary anorectal melanoma on anal cytology is a rare and challenging diagnosis. We report a case where anorectal cytology showed isolated malignant cells with oval nuclei, prominent nucleoli, and elongated wispy cytoplasmic projections. There was no evidence of squamous dysplasia or melanin pigment identified. To the best of our knowledge, this is the first reported case of a primary anorectal melanoma detected in anorectal cytology. Detection of malignancies other than squamous cell carcinoma can be seen on anorectal cytology and should be considered when there is no evidence of anal intraepithelial neoplasia. Diagn. Cytopathol. 2017;45:452–455. © 2017 Wiley Periodicals, Inc.     

Malignant melanoma with neuroendocrine differentiation: clinical, histological, immunohistochemical and ultrastructural features of three cases

AIM: To document the clinical, histological, immunohistochemical and ultrastructural features of three malignant melanomas showing neuroendocrine differentiation. METHODS AND RESULTS: Three patients, two with primary cutaneous melanoma and one with nasal mucosal melanoma, subsequently developing or simultaneously presenting with metastatic malignant melanoma, were studied by conventional histological technique, immunohistochemistry of formalin-fixed paraffin-wax embedded tissues, and electron microscopy of epoxy-resin-embedded tumour tissue. Tumours showed either small cell or conventional malignant melanoma cell morphology. One of the three primary melanocytic lesions (the nasal melanoma) exhibited neuroendocrine differentiation immunohistochemically. All three metastatic malignant melanomas showed, in varying combinations, immunohistochemical and ultrastructural evidence for neuroendocrine differentiation: they were positive for the melanocytic markers, S100 protein, HMB-45, Melan-A and tyrosinase, and the neuroendocrine markers chromogranin, synaptophysin and neurofilament protein. Ultrastructural study in two of the metastases revealed neuroendocrine granules but no lattice-bearing melanosomes. CONCLUSIONS: The cases described are the most comprehensively investigated malignant melanomas showing neuroendocrine differentiation to date, and the first to document neuroendocrine differentiation ultrastructurally in these tumours. Malignant melanoma with neuroendocrine differentiation therefore needs to be recognized among the other, better known variants of malignant melanoma.     

Primary malignant melanoma of the common bile duct: a case report and review of the literature

Primary malignant melanoma of the common bile duct is rare. To our knowledge, only 6 cases have been reported previously. The pathologic diagnosis of primary malignant melanoma in extracutaneous sites often requires the use of confirmatory immunohistochemical stains and electron microscopy studies, as well as tests to rule out other possible remote or concurrent primary sites. The presence of junctional activity adjacent to the tumor is another important requisite for the diagnosis of this entity. Nevertheless, absolute exclusion of a metastatic melanoma from an unknown occult site or regressed site is not entirely possible. We describe our observations in a case of primary malignant melanoma of the common bile duct in a 48-year-old man and discuss the criteria for diagnosis of primary melanoma.