Choroidal malignant melanoma with no extraocular extension presenting as orbital cellulitis

This report describes a patient with choroidal malignant melanoma presenting as orbital cellulitis without extraocular tumor extension. It is an interventional case report with histopathologic correlation. A 68-year-old male presented with a 3-day history of painful hyperemia and swelling in the right eye. The examination showed edematous eyelids, mechanical ptosis and chemosis with conjunctival injection. B-scan ultrasonography showed a mass with medium level echogenicity that filled the vitreous cavity. Magnetic resonance imaging showed a solid choroidal mass with hemorrhagic and inflammatory changes with no obvious extraocular extension. Due to these suggestive findings of choroidal melanoma the right eye was enucleated. A spindle cell choroidal melanoma including intense pigmentation and necrosis was confirmed by histopathological examination. Although rare; choroidal melanoma may present as orbital cellulitis, particularly when the tumor is necrotic.     

Giant hanging melanoma of the eyelid skin

Cutaneous melanoma of the eyelid is a rare entity. We present a 53-year-old male who had a nevus on the left upper eyelid skin since childhood, which transformed into a huge ulcerated hanging mass in the same region. Excision of the mass was done and histopathology confirmed the diagnosis of nodular malignant melanoma. A small preauricular lymph node showed metastatic melanoma on fine needle aspiration cytology.     

Malignant Melanoma: Analysis of an Autopsy Population

This report analyzes 92 malignant melanoma cases from a series of 12,383 consecutive autopsies. There were 12 cases of primary ocular malignant melanoma, 76 cases of primary nonocular malignant melanoma, and 4 cases of unknown primary site. Subjects with malignant melanoma were characterized by age, sex, and race; metastatic disease patterns as well as survival periods were analyzed. In the 12 ocular malignant melanoma cases, tumor size, cell type, and survival were considered. Discussion is concerned with the distribution of primary tumor site, the location of metastatic lesions secondary to malignant melanoma, and survival in cases with primary ocular malignant melanoma.     

误诊为黑色素瘤的视网膜色素上皮细胞来源的腺癌1例

视网膜色素上皮细胞(RPE)形成的肿瘤较少,常见肿瘤类型有黑色素瘤,少见类型包括RPE形成的腺癌,这两种肿瘤在临床和病理特点上都有所不同。本文报道1例60岁的男性患者,因为进展性视力丧失,眼科诊断为黑色素瘤而行右眼摘除术。病理学检查发现后极部接近视神经处可见实性、界限清楚的病灶。组织学检查见构成肿瘤的细胞,具有大的多形、浓染的核,核仁突出,色素极少;肿瘤细胞多呈乳头状排列。为和黑色素瘤进行区别,进一步行免疫组织化学染色。结果显示上皮膜抗原(EMA)为强阳性,HMB45阴性,支持RPE来源的腺癌诊断。系统检查排除了转移癌。总之,虽然RPE来源的腺癌非常少见,但必须清楚它与脉络膜黑色素瘤在诊断上的异同点。     

Congenital uveal malignant melanoma: a case report

CASE REPORT: We present a case of congenital choroidal mass in a male infant with multiple cutaneous pigmented lesions. Enucleation performed in the first weeks of life confirmed the diagnosis of diffuse uveal malignant melanoma with extraocular extension. The patient was also treated with 5 cycles of chemotherapy. He subsequently developed cutaneous and ocular pigmented lesions, including 2 choroidal nevi located within the posterior pole and a benign conjunctival lesion in the opposite eye, in addition to malignant melanoma of the skin. COMMENTS: At 10 years follow-up, the child is clinically well with no evidence of further malignancy. We believe this represents the fourth case ever reported in the literature and the longest follow-up of a congenital malignant melanoma originating within the eye.     

Posterior choroidal leiomyoma: new findings from a case and literature review

Posterior choroidal leiomyoma is a sporadic, rare benign tumor that is always confused with anaplastic melanoma. Here we report a case and provide a review. Most of the preoperative findings in our case were suggestive of malignant choroidal melanoma. However, the contrast enhanced ultrasound (CEUS) suggested a benign hemangioma. In summary, the posterior choroidal leiomyomas were yellowish-white in color and most commonly located in the temporal quadrant of the fundus (11/15). They were more frequent in Asians (13/16), the prevalence was almost equal in males and females (9:7), with a mean age of 35y. Microscopically, the tumor typically showed spindle cell bundles and nonmitotic ovoid nuclei arranged in intersecting fascicles. Vitrectomy is now a popular treatment option and definitive diagnosis can be made after immunohistochemistry. Finally, some summarized features of this tumor differ from those previously described. These may help in the diagnosis of posterior choroidal leiomyoma and differentiation from malignant melanoma.     

Ultrasound Biomicroscopic Findings of Ciliary Body Malignant Melanoma

Background Malignant melanoma of the uveal tract occurs rarely in Asian populations, and melanoma of the ciliary body is extremely rare. We treated an Asian man with uveal melanoma, relying on ultrasound biomicroscopy (UBM) findings for diagnosis and evaluation of the tumor.Case A 65-year-old man with uveal melanoma was examined by slit-lamp microscopy, UBM, and magnetic resonance imaging (MRI), and histopathological examinations were performed as well.Observations Slit-lamp examination and MRI gave rough images of the tumor, but the exact origin and margin of the mass could not be determined. UBM clearly characterized the tumor as a medium echoic solid mass with acoustic hollowing attached to the ciliary body by a thin stem. Ciliary body detachment at the pars plicata was also found by UBM. Histopathological examination confirmed that the tumor was an epithelioid cell malignant melanoma of the ciliary body.Conclusions UBM is useful in detecting, diagnosing, and evaluating a malignant melanoma of the ciliary body. Jpn J Ophthalmol 2004;48:412–414 © Japanese Ophthalmological Society 2004     

Growth Rates and Doubling Times of Posterior Uveal Melanomas

Seventeen patients having a posterior uveal melanoma underwent enucleation following documentation of tumor growth. Duration of follow-up from diagnosis to enucleation ranged from 3 weeks to 30 months. The mean rate of enlargement in cubic tumor volume was 56.3 mm³/mo for eight spindle cell melanomas and 270.3 mm³/mo for nine mixed cell melanoma. The mean tumor doubling time calculated according to the exponential growth equation was 291.6 days for the eight spindle cell melanomas and 128.2 days for the nine mixed cell melanomas. The mean mitotic activity was 3.5 mf/40 hpf for the eight spindle cell melanomas and 5.4 mf/40 hpf for the nine mixed cell melanomas. These results suggest that mixed cell posterior uveal melanomas generally grow faster and have shorter doubling times than do spindle cell melanomas.     

Malignant Melanoma of the Choroid Associated with Oculodermal Melanocytosis

A 66-year-old white woman with oculodermal melanocytosis developed a malignant melanoma of the choroid in the right eye. The association of uveal melanoma with ocular and oculodermal melanocytosis is discussed. A differential diagnosis of ocular and oculodermal melanocytosis with emphasis on primary acquired melanosis is presented. Accurate diagnosis of ocular and oculodermal melanocytosis is important as these conditions have been reported to develop malignant melanoma of the skin, uveal tract, orbit, meninges, and brain.     

ThinPrep® Vitreous-Based Diagnosis of Choroidal Malignant Melanoma

Purpose: To report an alternative method for the diagnosis of atypical choroidal malignant melanoma—ThinPrep® sampling of the vitreous cavity through 25-gauge vitrectomy. Method: Case report. Results: A 79-year-old gentleman presented with a progressive decline in visual acuity in his left eye. A clinical diagnosis of large choroidal malignant melanoma was made. Given the history of trauma and the possibility of enucleation, the patient wished to have histopathological confirmation. The patient underwent 25-gauge vitrectomy. However, he developed a choroidal hemorrhage during the procedure and the surgeon elected not to perform transretinal biopsy. Instead a sample of the vitreous was evaluated by ThinPrep® analysis, and a diagnosis of choroidal malignant melanoma was made. Conclusions: Cytological evaluation of vitreous substance with ThinPrep® may provide an alterative method for a diagnosis in select cases in which FNA is not possible or desirable. This technique is straightforward and minimizes the risk of retinal detachment or hemorrhage.     

Diagnosis and management of choroidal melanoma

We present a case report of a 40-year-old man with a malignant melanoma of the choroid. Systemic medical evaluation showed no evidence of metastases. Treatment with argon laser photocoagulation was ineffective in producing tumour reduction and resulted in the complications of uveitis, retinal vascular leakage and cystoid macular oedema. Treatment was altered to plaque irradiation with substantial regression of the tumour. We review the differential diagnosis and management of choroidal melanoma with reference to the current literature and to other cases. The role of fluorescein angiography, ultrasound, electro-oculography (EOG) and flicker perimetry in the diagnosis and monitoring of patients is described. The optometric considerations in detection and management of malignant choroidal melanoma are discussed.     

Immunohistochemical Diagnosis of a Rare Case of Epithelioid Malignant Peripheral Nerve Sheath Tumor with Multiple Metastases

Background The epithelioid variant of malignant peripheral nerve sheath tumor (MPNST) is a rare tumor with poor prognosis that sometimes involves the head and neck. The diagnosis is based principally on the histological examination, and it is generally very difficult to reach the correct diagnosis.Case An 84-year-old Japanese woman presented with a tumor mass of 2 weeks duration in the right medial canthal region.Observations Although the tumor was excised surgically, metastases occurred three times on her face and head, and the patient died of distant systemic multiple metastases. In the histopathological analysis, the tumor showed a composite pattern comprising spindle or polygonal cells arranged in irregular bands, and a population of larger epithelioid cells in solid sheets and nests. In the immunohistochemical analysis, the tumor cells were positive for S-100 protein, vimentin, and nerve growth factor receptor (NGFR), and negative for cytokeratin and HMB 45 (melanoma-associated antigen). These findings confirmed the diagnosis of MPNST.Conclusions Epithelioid MPNST has complex histopathological findings and histopathological features similar to other epithelioid tumors, especially malignant melanoma. Immunohistochemical examination using NGFR and HMB-45 is important in the differential diagnosis. Jpn J Ophthalmol 2004;48:565–569 ©Japanese Ophthalmological Society 2004     

Cavitary choroidal melanoma

CASE REPORT: We report an unusual case of cavitary choroidal melanoma. The results of ultrasonography, magnetic resonance imaging, computed tomography, and immunohistochemical studies are presented for a 38-year-old woman who developed an amelanotic tumor in the posterior choroid. B-scan ultrasonography disclosed intratumoral cavitations. Systemic and extraocular extension studies were negative. Enucleation was performed and histopathologic examination showed a choroidal melanoma of spindle cell type, with intratumoral cavitations lined by flattened tumor cells.COMMENTS: The majority of previous reports of intraocular cavitary tumors describe cavitary ciliary body tumors. Uveal melanoma should be included in the differential diagnosis of choroidal cavitary lesions. As far as we know, this is the second documented clinicopathologic correlation of a cavitary choroidal melanoma.     

眼睑皮肤恶性黑色素瘤早期检测进展

眼睑皮肤恶黑瘤发病率低,预后差,在临床及病理上很难与其他肿瘤鉴别.本文回顾了国内外眼睑皮肤恶黑瘤相关基因、肿瘤标志物的文献,发现B-RAF、hTERT、NOS及melan-A均与眼睑皮肤恶性黑色素瘤发生、发展,早期检测相关,有利其鉴别诊断.     

Recurrent conjunctival melanoma with neuroidal spindle cell features

A 66-year-old white woman had had a 20-year history of flat primary acquired melanosis involving the left inferior forniceal and palpebral conjunctiva. Over the ensuring 12 years, the patient experienced multiple recurrences of invasive malignant melanoma that emerged from the progressive primary acquired melanosis. Two of these recurrences were composed of nonpigmented spindle cells, and in the most florid invasive malignant melanoma that developed, the spindle cells formed a nodule 7.5 mm thick. The spindle cells were organized into fascicles and small bundles, the latter separated by a loose stroma that was devoid of mucopolysaccharides. The fascicular and neuroidal features in this case were sufficiently well developed to suggest the incorrect diagnosis of a neural tumor or a neurofibroma. However, the presence of intraepithelial atypical melanocytes at the edge of the spindle cell lesion, the absence of mucopolysaccharides in the stroma, the mitotic activity, and the absence of intercellular reticulin fibers favored the diagnosis of a spindle cell invasive malignant melanoma. This morphologic variant of conjunctival melanoma is compared with related cutaneous lesions of melanoma featuring a spindle cell population.     

原发性眼眶恶性黑色素瘤的临床特征（附3例报告）

目的 总结分析原发性眼眶恶性黑色素瘤的临床特征,并与国外已报道病例进行比较,使眼科医生加深对该罕见肿瘤的理解和认识。设计 回顾性病例系列。研究对象 2008年在北京同仁医院就诊的3例原发性眼眶恶性黑色素瘤患者。方法 回顾性分析上述3例患者的临床表现、影像学特点、组织病理学特征以及治疗和随诊情况,通过复习国外相关文献,比较我国患者与国外患者在临床特征方面的异同。主要指标 临床表现、磁共振成像（MRI）、病理学特征。结果 3例眼眶黑色素瘤患者中,主要临床症状均为不同程度且伴随不同症状的眼球突出。经过详细的全身检查,未发现原发于其他部位的黑色素瘤,排除转移性黑色素瘤的可能;眼睑、颜面部皮肤、结膜、巩膜等均无黑色素性病变,排除了先天性黒变病的病理基础。MRI检查显示：2例肿瘤均表现为短T1短T2信号,强化不明显,符合黑色素瘤的典型特征;1例肿瘤表现为主体呈短TI长T2不强化区,依据通常经验未能提示黑色素瘤。组织病理学检查显示：3例肿瘤均为恶性黑色素瘤,分别为上皮样细胞型、梭形细胞型、混合细胞型。其中1例肿瘤发生于眶内囊肿内壁的上皮组织,具有明确的囊膜上皮基础,据此推测,胚胎时期从神经嵴移行到囊壁上皮细胞间的黑色素细胞可能是原发性眶内黑色素瘤的组织学来源。治疗均采用单纯肿瘤切除术,术后1例患者未行任何辅助性放化疗,另2例患者分别行4个周期和7个周期化疗。随访40~48个月,3例患者均健在,无肿瘤复发和转移迹象。结论 MRI检查对于原发性眼眶恶性黑色素瘤术前诊断具有一定提示作用。附着于眼眶内囊肿上皮细胞间的黑色素细胞可能是该肿瘤的起源。由于肿瘤具有包膜,单纯肿瘤切除术治疗有效。     

Uveal Malignant Melanoma Associated with Ocular and Oculodermal Melanocytosis

Seventeen patients with ocular or oculodermal melanocytosis were identified among 1,250 Caucasian patients with uveal malignant melanoma. The uveal melanomas in these seventeen patients were similar in size, cell type, and tendency to metastasize to those occurring in reported populations without ocular or oculodermal melanocytosis. Clinical and histopathologic study of these 17 cases indicated that all of the affected eyes had episcleral and choroidal melanocytosis and that other ocular and periocular tissues (sclera, iris, conjunctiva, angle structures, and optic disc) were involved less commonly. The uveal malignant melanoma that was present in each of these cases involved the eye with melanocytosis. Furthermore, the melanoma arose from the zone of uveal melanocytosis in every eye with sectoral involvement. Statistical analysis of these data supports the contention that uveal malignant melanoma has a higher incidence in white persons with ocular or oculodermal melanocytosis than in those without these conditions.     

777例原发性眼结膜肿瘤

目的:原发性眼结膜肿瘤的组织病理学分析。方法:常规石蜡包埋切片及HE染色,少数作PAS、网状纤维及免疫组化检查。结果:777例原发性结膜肿瘤中良性肿瘤(669例(86.1％),恶性肿瘤108例(13.9％)。良性肿瘤中色素痣247例(36.9％),其他依次为囊肿、皮样瘤及纤维脂肪瘤等。恶性肿瘤中鳞状细胞癌58例(53.7％),恶性黑色素瘤占第二位。结论:结膜良、恶性肿瘤某些生物学特性的差别,可作为鉴别诊断的参考。结膜的鳞状细胞癌中还有梭形细胞癌和粘液表皮样癌的病理类型及恶性黑色素瘤术后复发有多种病理因素。眼科学报 1995;11:211—215。     

Tapioca melanoma of the iris mimicking a vascular tumour: a clinicopathological correlation

Although vascular iris processes are usually benign, they may be a clinical manifestation of iris melanoma, and this should be considered in the differential diagnosis. The case is reported of a 20-year-old man with a highly vascularized tapioca melanoma of the left iris without involvement of the anterior chamber angle or ciliary body, but with observed growth tendency. Sector iridectomy was performed 2 months after first examination. In addition, two separate floating tumour nodules were observed in the anterior chamber angle at 6 o'clock and were removed by aspiration. After 1 year follow up, no recurrence of melanoma cells was observed. In tapioca iris melanomas, diagnostic differentiation from congenital, inflammatory, vascular and neoplastic iris processes is required. Careful biomicroscopic examination of the iris in patients with vascular iris tumours may help the ophthalmologist to identify malignant iris melanomas (tapioca type) and plan appropriate surgical treatment.