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.     

鼻腔恶性黑色素瘤术后复发1例报道

鼻腔恶性黑色素瘤术后复发1例的报告.患者从发现鼻腔恶性黑色素瘤后,能存活将近10年,在临床上报道不多.早期发现、早期诊断,早期彻底切除肿瘤治疗是预防复发的关键.     

鼻腔小细胞恶性肿瘤26例临床病理分析

目的 探讨鼻腔小细胞恶性肿瘤的病理形态学和免疫组化染色的特点.方法收集26例鼻腔小细胞恶性肿瘤,通过常规HE及免疫组化染色进行观察.结果 恶性黑色素瘤11例,可见突出的嗜酸性核仁、核沟、核内假包涵体,表达S-100蛋白、HMB-45、Melan-A.嗅神经母细胞瘤7例,可见神经原纤维、菊形团结构,NSE、Syn阳性,S-100蛋白在肿瘤周边的支持细胞中表达.横纹肌肉瘤4例,瘤细胞多嗜酸性,desmin、vimentin、MyoDl、Myogenin阳性.小细胞神经内分泌癌2例,可见较多的凋亡、坏死和出血,NSE、Syn、CgA均阳性.骨外Ewing肉瘤/原始神经外胚层肿瘤2例,可见Homer-Wright假菊形团及乳头状结构,CD99、vimentin、Syn、NSE均阳性.结论 鼻腔小细胞恶性肿瘤具有相似的临床和形态学表现,因此,只有根据其各自的形态学和免疫组化染色特点,才可做出正确的诊断及鉴别诊断.     

婴儿色素性神经外胚瘤1例报道并文献复习

目的 探讨婴儿色素性神经外胚瘤的临床病理特征、免疫组化、诊断和鉴别诊断要点。方法 对1例婴儿色素性神经外胚瘤进行组织学和免疫组化观察和文献复习。结果 婴儿色素性神经外胚瘤好发于1岁以内的婴儿,肿瘤多见于上颌骨和颅骨,表现为浸润性和溶骨性破坏。组织学上显示大的并含不等量色素颗粒的上皮样细胞和小的神经母细胞样细胞。免疫组化显示CK、HMB-45、S-100蛋白、NSE在上皮样细胞呈阳性表达,小圆形瘤细胞S-100蛋白、NSE阳性或部分阳性。肿瘤彻底切除,随访3年未发现转移和复发。结论 婴儿色素性神经外胚瘤是一种少见的起源于神经嵴细胞的肿瘤,具有特征性的临床病理改变,需要和神经母细胞瘤、恶性黑色素瘤及其它小圆细胞肿瘤鉴别,生物学行为属于潜在恶性或低度恶性肿瘤,彻底切除预后良好。     

肛管直肠原发性恶性黑色素瘤临床病理分析

目的 探讨肛管直肠原发性恶性黑色素瘤的临床表现、手术方式、病理特征、免疫组化特点及误诊原因.方法 分析13例肛管直肠原发性恶性黑色素瘤的临床及病理资料,所有标本均行HE及免疫组织化学染色,免疫组织化学采用SP法.结果 本组男4例,女9例,平均年龄56.5岁.主要临床症状为排便习惯改变、便血、肛门口脱出肿物、肛门坠胀和肛周疼痛.临床误诊率为100%.肿物距肛缘1～4 cm,肉眼呈结节状、息肉状、菜花状、溃疡型及平坦型,镜下形态多样,以上皮细胞及梭形细胞为主,11例检见黑色素颗粒.结论 肛管直肠原发性恶性黑色素瘤是一种相对少见、恶性度极高的肿瘤,临床误诊率高,病理活检难以准确分型,S-100、HMB-45免疫组织化学染色有助于诊断,且特异性高,特别是对于无色素者.     

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。     

11例鼻腔恶性黑色素瘤临床病理分析

１１例鼻腔恶性黑色素瘤临床病理分析方复友原发于鼻腔的恶性黑色素瘤（简称恶黑）较少见，常易漏诊或误诊，现将我们遇到的１１例报道如下。１材料和方法收集１９７６～１９９４年我院和宁波市二院等经病理诊断的鼻腔恶黑共１１例，组织标本经常规脱水石蜡包埋，ＨＥ染色...     

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。     

未分化子宫内膜肉瘤6例临床病理观察

目的 探讨未分化子宫内膜肉瘤(undifferentiated endometrial sarcoma,UES)的临床病理特点、诊断及鉴别诊断.方法 对6例未分化子宫内膜肉瘤的临床资料、组织学形态及免疫组化结果进行观察分析.结果 患者年龄49～71岁,平均年龄59岁,临床主要表现为宫腔内占位和阴道出血;肿瘤大体呈息肉样,突入宫腔;镜下见肿瘤组织分化差,细胞异型明显,核分裂象丰富(＞10个/10 HPF),坏死常见;免疫组化标记,肿瘤细胞CD10、ER、PR、desmin、SMA、CK、EMA阴性,vimentin、EGFR阳性;6例随访6个月～4年,3例死于肺转移.结论 未分化子宫内膜肉瘤是一种少见的子宫内膜间质肿瘤,具有高度恶性.肿瘤组织分化差,细胞异型明显,常见坏死,免疫组化标记有助于诊断与鉴别.     

病理特殊染色联合病理免疫组化在鉴别肿瘤病理中的临床意义

目的:探讨病理特殊染色联合病理免疫组化在肿瘤病理诊断中的临床价值.方法:选取86例我院2019年8月至2021年8月就诊的肿瘤患者,所有患者入院后均进行穿刺活检,采用病理特殊染色法、病理免疫组化对穿刺采集的组织进行检查,以术后病理诊断结果为"金标准",比较病理特殊染色法、病理免疫组化单独、联合检查诊断价值.结果:经术后病理诊断结果显示,恶性62例;经病理特殊染色、免疫组化检查结果显示,恶性分别50例、48例;经联合诊断显示,恶性61例;与病理特殊染色、免疫组化单独诊断比较,联合诊断灵敏度、准确率较高,漏诊率较低(P<0.05).结论:病理特殊染色、病理免疫组化联合诊断准确率显著高于单独检查,有助于临床提高早期诊断效能,为临床制定治疗方案提供依据.     

Primary mucosal melanomas: a comprehensive review

Primary mucosal melanomas arise from melanocytes located in mucosal membranes lining respiratory, gastrointestinal and urogenital tract. Although a majority of mucosal melanomas originate from the mucosa of the nasal cavity and accessory sinuses, oral cavity, anorectum, vulva and vagina, they can arise in almost any part of mucosal membranes. Most of mucosal melanomas occur in occult sites, which together with the lack of early and specific signs contribute to late diagnosis, and poor prognosis. Because of their rareness the knowledge about their pathogenesis and risk factors is insufficient, and also there are not well established protocols for staging and treatment of mucosal melanomas. Surgery is the mainstay of treatment, with trends toward more conservative treatment since radical surgery did not show an advantage for survival. Radiotherapy can provide better local control in some locations, but did not show improvement in survival. There is no effective systemic therapy for these aggressive tumors. Compared with cutaneous and ocular melanoma, mucosal melanomas have lowest percent of five-year survival. Recently revealed molecular changes underlying mucosal melanomas offer new hope for development of more effective systemic therapy for mucosal melanomas. Herein we presented a comprehensive review of various locations of primary melanoma along mucosal membranes, their epidemiological and clinical features, and treatment options. We also gave a short comparison of some characteristics of cutaneous and mucosal melanomas.     

Diagnostic lessons of mucosal melanoma with osteocartilaginous differentiation

Aims : To document the clinical, morphological and immunohistochemical features of two cases of primary mucosal melanoma with osteocartilaginous differentiation.  

Materials and methods

Two cases of mucosal melanoma with cartilage and bone formation are reported, one arising in the vagina of a 79-year-old woman and one in the oral cavity of a 67-year-old man. The vaginal melanoma exhibited only cartilaginous differentiation. The oral cavity mucosal melanoma exhibited both bone and cartilage formation and was remarkable for its multifocality, long history not associated with metastases and its lengthy manifestation of dual morphologies: some of the tumours were typical in situ/invasive melanotic melanomas whilst the others were composed of amelanotic spindle and epithelioid cells with osteocartilaginous tissue. One of the lesions exhibited in situ and invasive melanoma with transition to an osteogenic tumour in places. The patient also developed non-osteogenic malignant melanomas in the nasal cavity and nasopharynx.  

Conclusions

Malignant melanomas showing foci of osteocartilaginous differentiation are extremely rare with only 18 cases reported. Primary mucosal malignant melanomas of vagina and oral cavity showing osteocartilaginous differentiation have not previously been documented. Primary vaginal melanoma with cartilaginous differentiation must be distinguished from primary malignant mixed Müllerian tumour whilst malignant change in a pleomorphic adenoma, sarcomatoid carcinoma, osteogenic sarcoma and mesenchymal chondrosarcoma are included in the differential diagnosis of primary oral mucosal melanomas with osteocartilaginous differentiation. In this context, immunohistochemistry using antibodies to cytokeratin, S100 protein and MIC2 is of value.     

Distinct chromosomal aberrations in sinonasal mucosal melanoma as detected by comparative genomic hybridization

Sinonasal mucosal melanomas are the most frequent mucosal melanomas and arise from melanocytes located in the nasal cavity and the paranasal sinuses. The melanoma types, cutaneous melanoma, uveal melanoma, and mucosal melanoma, differ in etiology, geographic distribution, and clinical behavior. Genetic alterations have been previously studied in cutaneous and uveal melanomas but, to the best of our knowledge, not in mucosal melanomas. Comparative genomic hybridization (CGH) was performed on 14 routinely processed sinonasal mucosal melanomas. Furthermore, ploidy analysis was performed on 11 tumors to provide complementary data on the DNA index. The CGH profiles of sinonasal mucosal melanomas show remarkably consistent alterations: chromosome arm 1q is gained in all tumors and gains of 6p and 8q are present in 93 and 57%, respectively. Comparison of CGH data with both the common variants of cutaneous melanoma and uveal melanoma revealed that sinonasal mucosal melanomas harbor a distinct pattern of chromosomal abnormalities. Ploidy analysis also showed that diploid tumors exhibit gains of 1q and alterations of chromosome 6 (3 of 3 cases tested), whereas clear-copy gains and high-copy gains were seen only in triploid and tetraploid tumors (6 of 8 cases tested). This indicates that alteration of chromosomes 1 and 6 may precede polyploidization and formation of clear-copy gains and high-copy gains.     

Mucosal melanomas of different anatomic sites share a common global DNA methylation profile with cutaneous melanoma but show location-dependent patterns of genetic and epigenetic alterations

Cutaneous, ocular, and mucosal melanomas are histologically indistinguishable tumors that are driven by a different spectrum of genetic alterations. With current methods, identification of the site of origin of a melanoma metastasis is challenging. DNA methylation profiling has shown promise for the identification of the site of tumor origin in various settings. Here we explore the DNA methylation landscape of melanomas from different sites and analyze if different melanoma origins can be distinguished by their epigenetic profile. We performed DNA methylation analysis, next generation DNA panel sequencing, and copy number analysis of 82 non-cutaneous and 25 cutaneous melanoma samples. We further analyzed eight normal melanocyte cell culture preparations. DNA methylation analysis separated uveal melanomas from melanomas of other primary sites. Mucosal, conjunctival, and cutaneous melanomas shared a common global DNA methylation profile. Still, we observed location-dependent DNA methylation differences in cancer-related genes, such as low frequencies of RARB (7/63) and CDKN2A promoter methylation (6/63) in mucosal melanomas, or a high frequency of APC promoter methylation in conjunctival melanomas (6/9). Furthermore, all investigated melanomas of the paranasal sinus showed loss of PTEN expression (9/9), mainly caused by promoter methylation. This was less frequently seen in melanomas of other sites (24/98). Copy number analysis revealed recurrent amplifications in mucosal melanomas, including chromosomes 4q, 5p, 11q and 12q. Most melanomas of the oral cavity showed gains of chromosome 5p with TERT amplification (8/10), while 11q amplifications were enriched in melanomas of the nasal cavity (7/16). In summary, mucosal, conjunctival, and cutaneous melanomas show a surprisingly similar global DNA methylation profile and identification of the site of origin by DNA methylation testing is likely not feasible. Still, our study demonstrates tumor location-dependent differences of promoter methylation frequencies in specific cancer-related genes together with tumor site-specific enrichment for specific chromosomal changes and genetic mutations. © 2021 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.     

VS38 immunostaining in melanocytic lesions.

AIMS: To investigate the immunoreactivity of a range of melanocytic lesions, both benign and malignant, with the monoclonal antibody VS38. This was recently described as a marker of reactive/neoplastic plasma cells and, therefore, is useful in the diagnosis of plasmacytoma/myeloma and lymphomas with plasmacytic differentiation. This study was prompted by the recent observation that a plasmacytoid melanoma arising in the nasal cavity was strongly immunoreactive with VS38, which was therefore a potential source of major diagnostic error. METHODS: The Streptavidin-peroxidase complex technique was used on paraffin wax embedded sections of 167 melanocytic lesions. Diaminobenzidine (DAB) was used as chromogen for non-pigmented or lightly pigmented lesions and nickel/DAB for more heavily pigmented lesions. RESULTS: Positive immunostaining for VS38 was seen in 14.5% (10/69) of benign naevi (including 40% (four of 10) of Spitz naevi), 10.5% (two of 19) of dysplastic naevi/in situ melanomas, 92% (35/38) of primary cutaneous melanomas, 100% (four of four) of primary mucosal melanomas, 91.7% (33/36) of recurrent/metastatic melanomas, and 100% (one of one) of clear cell sarcomas of soft tissues. CONCLUSIONS: VS38 immunostaining is frequently positive in primary and recurrent/metastatic malignant melanoma and is also reactive less commonly with benign naevi. These results should be borne in mind when this recently described marker of normal/neoplastic plasma cells is used to identify tumour lineage, particularly in tumours arising at unusual sites, such as in the nasal cavity. The possibility of malignant melanoma should be actively considered and excluded in any undifferentiated tumour which shows VS38 immunoreactivity.     

Sinonasal tract seromucous adenocarcinomas: a report of 12 cases

Sinonasal seromucous adenocarcinomas may originate from the surface epithelium or from the submucosal glands. We reviewed the clinicopathologic material from 12 patients with sinonasal tract seromucous adenocarcinomas at the University of Texas M. D. Anderson Cancer Center (Houston, TX). There were nine men and three women age 30 to 87 years (mean age, 56.3 years). The clinical presentation included nasal obstruction, nasal mass, and epistaxis. Eight tumors were located in the nasal cavity, three in the ethmoidal sinuses, and one involved the nasal cavity and ethmoid. Histologically, in nine cases the neoplastic glands were lined by a single cell type, arranged back to back without intervening stroma and often inducing desmoplastic reaction. The remaining three tumors also had a cribriform and papillary pattern. All patients were treated by surgical resection. Three patients had recurrences, which occurred at 36, 36, and 48 months after initial therapy. Their treatment involved surgery and irradiation. Eleven patients are alive and free of disease at 36 to 108 months after diagnosis. One patient died 48 months after diagnosis of another cause. Sinonasal tract seromucous adenocarcinomas arise purely from submucosal seromucous glands. The diagnosis is facilitated by their anatomic location, the absence of tumor within the mucosal surface epithelium, and the striking similarity to terminal tubules of the seromucous glands.     

Mucosal malignant melanoma – a clinical,oncological, pathological and genetic survey

Mucosal melanomas constitute 1.3% of all melanomas and they may develop in any mucosal membrane. Conjunctival melanomas (0.5/million/year) and melanomas in the sinonasal cavity (0.5/million/year) are the most common, followed by anorectal melanomas (0.4/million/year) and melanomas in the oral cavity (0.2/million/year). Anorectal melanoma occurs slightly more often in females, whereas oral melanoma has a male predilection. Mucosal melanoma most commonly develops in a patient's sixth or seventh decade of life, and no differences between races have been found except for sinonasal melanoma and conjunctival melanoma, which are very rare in Black people. The symptoms are not tumour‐specific and are related to the organ system affected, and the disease is most often diagnosed at an advanced clinical stage. The diagnosis of a primary tumour is difficult, and metastatic cutaneous melanoma and choroidal melanoma must be excluded. Mutations in KIT are frequently found, while BRAF and NRAS mutations are rarely found – except in conjunctival melanomas that carry BRAF mutations. Mutations in the TERT promotor region are also found in mucosal melanomas. Complete surgical resection with free margins is the treatment of choice. The prognosis is poor, with the 5‐year survival rate ranging from 0% (gastric melanoma) to 80% (conjunctival melanoma).     

上呼吸道结外Rosai-Dorfman病临床病理学观察

目的 探讨上呼吸道结外Rosai-Dorfman病的临床病理特征及鉴别诊断.方法 采用光镜及免疫组织化学LSAB法结合临床资料,对10例发生于上呼吸道的结外Rosai-Dorfman病进行临床病理学分析.结果 10例患者中,男性3例,女性7例,发病年龄20 ～61岁,平均38岁.肿瘤分别位于鼻腔鼻窦(7例)、鼻咽(2例)和硬腭气管(1例).患者多以鼻塞、鼻衄或鼻腔鼻咽新生物就诊.CT显示鼻腔鼻窦等相应部位占位性病变,无骨质破坏.组织学显示肿瘤由相互交错的淡染区与暗染区组成,淡染区见大圆形或多边形的组织细胞,部分组织细胞见吞噬现象;暗染区由聚集的淋巴细胞和浆细胞组成.免疫组织化学染色显示组织细胞弥漫强阳性表达S-100蛋白,部分表达CD68等.随访6例,经手术治疗均健在,无复发.结论 上呼吸道结外Rosai-Dorfman病较为少见,多发生于鼻腔鼻窦,形态学上易与鼻硬结病相混淆,常需免疫组织化学染色加以鉴别.     

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.     

鼻腔及鼻窦非霍奇金淋巴瘤的CT诊断

目的：探讨鼻腔及鼻窦非霍奇金淋巴瘤（NHL）的CT特点,提高诊断准确性。方法：回顾性分析24例经病理证实的鼻腔及鼻窦NHL的CT表现。结果：24例中16例位于单侧,8例累及双侧。原发于鼻前庭2例、鼻腔6例、鼻窦9例、鼻腔鼻窦7例。病灶肿块表现15例,浸润表现9例。24例中22例病灶密度相对均匀,2病灶密度相对不均,增强后部分强化。原发于鼻腔的淋巴瘤1例见骨质破坏,原发于鼻窦和鼻腔鼻窦的有6例见骨质破坏;常累及邻近结构。结论：鼻腔鼻窦NHL的CT表现缺乏特征性征象,但有一些相对特异性征象有助于鼻腔鼻窦NHL的诊断。根据CT的相对特征性表现,结合临床,有助于及时诊断该类疾病。