太田痣并发脉络膜黑素瘤

报告1例太田痣并发脉络膜黑素瘤.患者女,58岁.因右眼前黑影飘动、视物遮挡感伴视力下降6个月就诊.患者自14岁起右眼睑下方渐出现一淡青灰色斑片,随年龄增长而缓慢扩大,近5年来颜色明显加深.荧光素眼底血管造影及CT检查符合脉络膜黑素瘤表现,诊断为太田痣并发脉络膜黑素瘤.行~(106)Ru(钌)放射敷贴器置入术治疗.     

Mycosis fungoides associated with malignant melanoma and dysplastic nevus syndrome

BACKGROUND: The increased risk of second malignancies, including nonmelanoma skin cancers, in cutaneous T-cell lymphoma (CTCL) patients has been well documented. However, relatively few studies of malignant melanoma in CTCL patients have been reported. METHODS: A database of 250 CTCL patients registered over a 3-year period was searched to identify patients with diagnoses of both mycosis fungoides (MF) and malignant melanoma. RESULTS: We identified six cases of MF associated with malignant melanoma and one associated with dysplastic nevus syndrome, which is a marker of increased risk of melanoma. In four patients, melanoma was diagnosed along with or before MF. In the remaining two patients, MF was diagnosed prior to melanoma, although dysplastic nevi were noted at the time MF was diagnosed. These two patients received treatment for their MF (one with topical nitrogen mustard and another with radiation therapy and nitrogen mustard) prior to the histologic confirmation of melanoma. Six patients had early stages of MF (IA or IB), while one patient presented with simultaneous erythrodermic mycosis fungoides involving the lymph nodes as well as melanoma metastatic to the lymph nodes from an unknown primary. CONCLUSION: There is an elevated prevalence of malignant melanoma in MF patients compared to the general US population (P < 0.00001) with a relative risk of 15.3 for observing malignant melanoma in MF patients (95% confidence interval 7.0-33.8). Possible pathologic links between the two diagnoses include effects of mycosis fungoides therapies, immunosuppression secondary to mycosis fungoides, and genetic alterations in the p16 tumor suppressor protein.     

Argyrophilic nucleolar organizer region counts in malignant melanoma associated with benign intradermal nevus.

A silver colloidal technique to demonstrate argyrophilic proteins of the nucleolar organizer regions (AgNORs) was performed on sections of 20 cases of malignant melanoma (MM) associated with underlying benign nevus (BN). In these cases, significant different AgNOR counts were found for MM and BN. In addition, this technique permitted the identification of melanocytic cells located between malignant and benign cells showing AgNOR scores intermediate (5.51) between BN (2.6) and MM (7.71) with a more complex and bizarre morphology than that observed in BN. The AgNOR technique can be suitable in the identification of residual nevus cells in MM, especially when their number is minimal and the common histologic criteria are unsatisfactory; it can also increase the understanding of the natural history of MM.     

DNA hypermethylation is associated with invasive phenotype of malignant melanoma

Tumor cell invasion is one of the key processes during cancer progression, leading to life-threatening metastatic lesions in melanoma. As methylation of cancer-related genes plays a fundamental role during tumorigenesis and may lead to cellular plasticity which promotes invasion, our aim was to identify novel epigenetic markers on selected invasive melanoma cells. Using Illumina BeadChip assays and Affymetrix Human Gene 1.0 microarrays, we explored the DNA methylation landscape of selected invasive melanoma cells and examined the impact of DNA methylation on gene expression patterns. Our data revealed predominantly hypermethylated genes in the invasive cells affecting the neural crest differentiation pathway and regulation of the actin cytoskeleton. Integrative analysis of the methylation and gene expression profiles resulted in a cohort of hypermethylated genes (IL12RB2, LYPD6B, CHL1, SLC9A3, BAALC, FAM213A, SORCS1, GPR158, FBN1 and ADORA2B) with decreased expression. On the other hand, hypermethylation in the gene body of the EGFR and RBP4 genes was positively correlated with overexpression of the genes. We identified several methylation changes that can have role during melanoma progression, including hypermethylation of the promoter regions of the ARHGAP22 and NAV2 genes that are commonly altered in locally invasive primary melanomas as well as during metastasis. Interestingly, the down-regulation of the methylcytosine dioxygenase TET2 gene, which regulates DNA methylation, was associated with hypermethylated promoter region of the gene. This can probably lead to the observed global hypermethylation pattern of invasive cells and might be one of the key changes during the development of malignant melanoma cells.     

巨大先天性色素痣伴软脑膜恶性黑素瘤1例

报告1例巨大先天性色素痣伴软脑膜恶性黑素瘤。患者女,31岁。出生时左躯干即有大片黑斑,随着年龄增长,黑斑逐渐扩大,表面粗糙、有毛,身体其他部位也有许多黑斑。近1年来时有头痛,入院前2h突然出现恶心、呕吐,经抢救无效死亡。尸检发现软脑膜有灰黑色斑块,经组织病理检查确诊为软脑膜恶性黑素瘤。     

Ophthalmologic manifestations of leukocytoclastic vasculitis. Apropos of 3 case reports

Ophthalmological lesions enter in the definition of Cogan's syndrome, associated with vestibulo-auditory symptoms. They are present in almost one half of patients with Wegener's granulomatosis and in 10 to 20 p. 100 of patients with periarteritis nodosa, where they may be the initial symptom. Yet they are seldom described in leucocytoclastic angiitis of small vessels, 3 cases of which are reported here. The first case concerns a 71-year old woman with cutaneous leucocytoclastic angiitis which regressed within a few days under dapsone. However, the drug had to be withdrawn on account of acute haemolysis. Thereafter, new skin lesions and severe pain in the left eye with fall in visual acuity developed simultaneously. Eye examination showed a large, marginal ulceration of the cornea extending to the adjacent sclera and reflecting deep involvement of the sclerocorneal limbus. Systemic corticosteroid therapy in doses of 1 mg/kg/day was instituted, resulting in gradual disappearance of the skin lesions and stabilization of the ophthalmic lesion. There remains, however, thinning of the cornea and sclera which entails a definite risk of perforation should the angiitis recur. The second patient was a 54-year old man seen for fever, polyarthralgia, purpura of the lower limbs and rapidly extending necrotic ulceration of the scrotum. A few days previously, inflammatory chemosis of the right eye had suddenly developed. Under systemic corticosteroids (1.5 mg/kg/day), the ophthalmic symptoms rapidly regressed, but the patient died of digestive tract haemorrhage. The third case was that of a 36-year old woman with urticaria associated with arthralgias and diffuse myalgia.(ABSTRACT TRUNCATED AT 250 WORDS)     

Small congenital nevi associated with melanoma: case reports and considerations

Melanocytic nevi, both congenital and acquired, are considered to be precursors of melanomas. Data about the malignant potential of these nevi are conflicting, particularly with reference to the nevus of the smallest size. Patients with preexisting melanocytic nevi (both congenital and acquired) have risks of developing melanoma that differ from those of subjects without them. The purpose of this study was to verify the presence of melanoma in preexisting nevi both congenital (congenital nevus associated melanoma) (CNAM) and acquired (ANAM). In particular, we investigated melanomas associated with small congenital nevi (SCN). A cohort of 190 patients with primary melanomas was studied. Congenital nevi were called "small" (SCN) when their diameters were less than 1.5 cm. Epiluminescence microscopy (ELM) was performed to further improve the clinical diagnosis and to observe the more subtle changes in the preexisting nevi. Forty of the 190 cases of melanoma were associated with preexisting nevi; of these, 15 had congenital features with a CNAM largest diameter of 1.5 cm. These 15 cases were melanomas of the superficial type with a mean tumor thickness lower than that of ANAM (0.33 vs 1.50). There were no differences between the locations of CNAM and other melanomas. Male patients were significantly more affected. ELM microscopy permitted us to detect the early malignant changes in nevi and thus to improve our diagnosis. A high percentage of small congenital nevi were found to be associated with melanomas. They may be considered as melanomas precursors. Because of their large number and frequency, prophylactic removal of all SCN is not feasible. However, they should be removed as soon as possible when clinical or ELM changes are observed.     

Oral malignant melanoma associated with pseudoepitheliomatous hyperplasia. Report of a case

BACKGROUND: Pseudoepitheliomatous hyperplasia (PEH), a histological mimic of squamous cell carcinoma, is an exuberant reactive epithelial proliferation that may be induced by a variety of infectious, traumatic, inflammatory and neoplastic conditions of the skin and mucous membranes. PEH has been described in association with Spitz nevi and intramucosal nevi but not with oral malignant melanoma. METHODS AND RESULTS: A case of PEH in malignant melanoma of the palate in a 46-year-old female patient has been described. A search of the English literature did not disclose any previously reported case of such event. CONCLUSIONS: PEH associated with oral malignant melanoma is apparently very rare and most likely originates from the surface epithelium. This is in contrast with PEH in cutaneous melanoma where follicular or eccrine units have been suggested to be the origin.     

组氨酸三聚体核苷结合蛋白1 mRNA在良恶性黑素细胞肿瘤中的表达

目的探讨组氨酸三聚体核苷结合蛋白1(HINT1)mRNA在恶性黑素瘤和痣细胞痣中的表达.方法采用半定量RT-PCR方法检测了25例痣细胞痣和25例恶性黑素瘤中HINT1 mRNA的表达,包括新鲜标本和存档石蜡标本.结果相同标本经过10%甲醛固定、石蜡包埋后提取RNA进行半定量RT-PCR的结果与新鲜冻存组织提取RNA的结果高度一致,痣细胞痣组织中HINT1 mRNA的表达水平为0.49±0.04,恶性黑素瘤组织中HINT1 mRNA的表达水平下降为0.31±0.07,差异有统计学意义(P＜0.05).结论HINT1 mRNA表达下降可能与恶性黑素瘤发病有关.     

Immunohistochemical characterization of Spitz's nevus: differentiation from common melanocytic nevus, dysplastic melanocytic nevus and malignant melanoma

Recently it has been reported that Spitz's nevus possesses a deranged melanogenesis with formation of the spherical melanosomes also seen in superficial spreading melanoma (SSM) and dysplastic melanocytic nevus (DMN). To characterize the nature of Spitz's nevus, immunohistochemical studies were carried out in 9 cases of this condition using monoclonal antibodies (MoAbs) which identify (a) human melanosome-associated antigen (HMSA-1 and HMSA-2), (b) S-100 protein (α and β subunits), (c) Leu-7 (HNK-1), (d) β2 microglobulin (B2MG), and (e) neuron specific enolase (NSE). In contrast to SSM and DMN, none of the 9 cases showed any significant reactivity with MoAbs HMSA-1 and HMSA-2. Similar to cutaneous malignant melanoma (CMM) and DMN, and unlike common melanocytic nevus (CMN), anti-S-100 protein α subunit MoAb reacted from moderately to intensely with Spitz's nevus, and anti-S-100 protein β subunit MoAb reacted weakly. Anti-B2MG MoAb was reactive with 8 of 9 cases. Only one case showed cytoplasmic reactivity to anti-Leu-7 MoAb. Polyclonal NSE was found in 7 cases at varying intensities. Our immunohistochemical study indicates the distinct, benign neoplastic nature of Spitz's nevus which has immunoreactivities differing from those of CMM, DMN and CMN.     

手术扩大切除联合小剂量干扰素α2b治疗侵袭性皮肤恶性黑素瘤32例

目的 回顾性分析手术扩大切除联合小剂量干扰素(IFN)α2b治疗皮肤恶性黑素瘤的疗效.方法 32例皮肤恶性黑素瘤患者经术前检查分期后(Ⅱ期21例、Ⅲ期11例)接受了手术扩大切除,手术范围距离皮损或组织病理取材后瘢痕边界1～2cm.手术方法包括:直接切除缝合4例、截指(趾)6例、皮肤游离移植15例、任意皮瓣转移3例和轴型皮瓣转移4例.有区域淋巴结转移行选择性淋巴结摘除者9例,腹股沟淋巴结清扫者2例.术后1周,给予IFN-α2b 300万IU皮下注射每周3次,连续1～3年.结果 所有患者的切口均甲级愈合.截止到2011年6月,2例患者失访,其余30例患者中,6例随访5年,生存4例,死亡2例(均为ⅢC期);7例随访3～5年,生存5例,死亡2例(均为ⅢC期);13例随访1～3年,生存12例,死亡1例(为ⅢB期);4例随访1年内的无1例死亡.现存的25例患者中,8例合并区域淋巴结转移,其中2例为手术后2年内新出现的区域淋巴结转移;8例完成了IFN-α2b治疗3年的疗程,11例已接受了1年以上的治疗,不良反应轻微.结论 手术扩大切除联合小剂量干扰素α2b治疗Ⅱ期和Ⅲ期皮肤恶性黑素瘤,能降低局部复发,患者生存率高.     

Weber-Christian disease associated with familial alpha-1-antitrypsin deficiency. Apropos of a case

The authors report a case of Weber-Christian disease associated with familial alpha-1-antitrypsin deficiency in a 47-year-old woman. The serum alpha-1-antitrypsin level is low and the phenotype is Pi ZZ. The histological picture was consistent with Weber-Christian panniculitis, showing foci of fat cell necrosis with lipophagic granuloma and fibrosis. The same biological trait also exists in the propositus' sister who developed emphysema without cutaneous involvement. The pathogenesis probably rests on a particular reactivity to microtraumata with exacerbation of local inflammatory events due to a partial deficient control of proteolytic activity. The prognosis of the disease varies from a chronic recurrent process to a short fulminant course with possible fatal outcome. The treatment is at the present time ill-codified and any how only symptomatic. In this case, the propositus responded well to a high dose regimen of corticosteroids, 100 mg daily, but relapsed as the treatment was reduced to 50 mg daily.     

The number and distribution of nevus cell nevi in patients with malignant melanoma

Total-body cutaneous examination of 211 patients with malignant melanoma (MM) and 157 controls showed that patients with MM had significantly more nevi. Among MM patients, men had more nevi on the trunk than women, and women had more nevi on the lower extremities than men. Men had an MM distribution that was similar to their nevus distribution. Women, however, had proportionately more MM on the legs and fewer MM on the neck. The "nevus density," defined as the number of nevi per unit surface area of skin, was higher in male MM patients. The nevus density was highest on the head and neck, and lower on the lower extremities and anterior trunk. Patients with nodular melanoma had more nevi than those with superficial spreading melanoma. MM patients with a family history of many nevi had more nevi than those without such a history. Patients with a family history of MM did not show an increased number of nevi, but they had larger numbers of suggestive nevi removed than those without a family history of MM. We believe that many of these observations are consistent with the view that MM is caused by a genetic predisposition to an overactive melanocytic system in combination with an external stimulant, such as UV radiation.     

趋化因子受体4、7在皮肤黑素瘤、色素痣组织中的表达及意义

目的 探讨皮肤黑素瘤和色素痣组织中趋化因子受体4(CXCR4)和趋化因子受体7(CXCR7)的表达及其与病理特征的相关性.方法 免疫组化法检测CXCR4、CXCR7在两个组(黑素瘤组及色素痣组)中的表达情况.结果 黑素瘤组与色素痣组免疫组化比较:CXCR4分别是20％(8/40)和50％(20/40)为(-);12.5％(5/40)和42.5％(17/40)为(+);32.5％(13/40)和7.5％(3/40)为(++);35％(14/40)和0％(0/40)为(+++);差异有统计学意义(均P＜ 0.05).CXCR7分别是15％(6/40)和35％ (14/40)为(-);10％(4/40)和62.5％ (25/40)为(+);22.5％(9/40)和2.5％(1/40)为(++);52.5％(21/40)和0为(+++);差异有统计学意义(均P＜0.05).CXCR4的表达水平在年龄、性别、Breslow厚度、溃疡情况、淋巴细胞浸润情况分组中差异无统计学意义(P＞0.05);在发病部位、Clark分级、淋巴结转移分组中差异有统计学意义(P＜ 0.05);CXCR7的表达水平在年龄、性别、溃疡情况、淋巴细胞浸润情况、淋巴结转移分组中差异无统计学意义(P＞0.05);在发病部位、Breslow厚度、Clark分级分组中差异有统计学意义(P＜0.05).结论 皮肤黑素瘤和色素痣组织标本中,CXCR4和CXCR7有不同程度的表达,CXCR4和CXCR7可能参与黑素瘤的发生发展.     

Desmoplastic malignant melanoma on the buttock of an 18-year-old girl: differentiation from desmoplastic nevus

Melanocytic proliferation in young people may sometimes pose a diagnostic dilemma. This is particularly so when a desmoplastic component is present. Because the two main differential diagnoses, desmoplastic malignant melanoma and desmoplastic Spitz nevus, share some morphologic features, the diagnosis of desmoplastic malignant melanoma may be overlooked. Distinction between the two is important because they show completely different biological behavior. The age of patient, site of lesion, histologic findings of melanocytic atypia, neurotropism, mitosis, and maturation help to distinguish the two entities. We report a case of desmoplastic malignant melanoma occurring in the buttock of an 18-year-old Chinese girl. Histologically, it had typical features of desmoplastic malignant melanoma with junctional melanocytic atypia and prominent neurotropism. Clinical and histologic differences between desmoplastic malignant melanoma and desmoplastic Spitz nevus are reviewed. We conclude that although desmoplastic Spitz nevus occurs much more commonly in adolescents, desmoplastic malignant melanoma can occur in this age group and even in non-sunexposed skin. Microscopic findings remain the mainstay that guides the final diagnosis.