- 作者列表："Gaitskell K","Nassar S","Ibrahim H
:Merkel cell carcinoma (MCC) is a rare primary neuroendocrine carcinoma of the skin, usually occurring at sun-exposed sites in elderly people. Divergent differentiation in MCC, although rare, has been reported in previous case series. We describe two new cases of MCC with divergent differentiation. Patient 1 was a 96-year-old man with a scalp lesion; on biopsy, the morphology and immunoprofile suggested MCC with divergent squamous differentiation. Patient 2 was an 87-year-old woman with a lesion on her leg, originally reported as squamous cell carcinoma, later showing extensive local recurrence. On review, primary histology showed an MCC with divergent differentiation, most likely trichilemmal carcinoma; the recurrence showed only MCC. These cases illustrate that MCC is capable of divergent differentiation, including squamous and adnexal morphologies. Correct diagnosis is essential for appropriate prognosis and management, as later recurrence or metastases may only show the Merkel cell component.
: Merkel细胞癌 (MCC) 是一种罕见的原发性皮肤神经内分泌癌，通常发生在老年人的日光暴露部位。MCC中的分歧分化，虽然罕见，但在以前的病例系列中已有报道。我们描述了两个不同分化的MCC新病例。患者 1 为 96 岁男性，头皮病变; 活检时，形态学和免疫表型提示MCC伴分歧鳞状分化。患者 2 为 87 岁女性，腿部有病变，最初报告为鳞状细胞癌，后来表现为广泛局部复发。复查时，原发组织学显示MCC，分化不同，最有可能是外阴层癌; 复发仅显示MCC。这些病例说明MCC能够分化，包括鳞状和附件形态。正确的诊断对于适当的预后和处理至关重要，因为以后的复发或转移可能只显示Merkel细胞成分。
METHODS::Blue rubber bleb naevus syndrome (BRBNS) is an extremely rare venous malformation that often manifests as multiple haemangioma-like lesions in the skin and gastrointestinal tract. The drug sirolimus plays a key role in the signalling pathway of angiogenesis and subsequent development of BRBNS and its use has been described in several case reports. We present a case series of four patients with BRBNS who exhibited good treatment response to sirolimus. All four patients were administered oral sirolimus at doses of 1.0-1.5 mg/m2 /day with a target drug level of 5-10 ng/mL and median treatment duration of 20 months. All patients had a reduction in the size of the lesions and a normalization of coagulopathy with tolerable drug adverse reactions at follow-up. Sirolimus may be effective and safe in paediatric patients with BRBNS. Further prospective studies are suggested to evaluate the long-term effectiveness of this drug.
METHODS:BACKGROUND:Human papillomavirus (HPV) infections are associated with common dermatologic and nondermatologic diseases. Although HPV vaccines are well established as preventive measures for genital warts and cervical neoplasia, their use as therapeutic agents deserves greater attention. OBJECTIVE:To evaluate the use of HPV vaccine(s) as a treatment modality for cutaneous and/or mucosal disease. METHODS:A primary literature search using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines was conducted in January 2019 by using the PubMed and Cochrane databases. RESULTS:A total of 63 articles with 4439 patients were included. The majority of patients with cutaneous warts, recurrent respiratory papillomatosis, and squamous and basal cell carcinomas were successfully treated with HPV vaccination. Preliminary data on patients with pre-existing anogenital warts, cervical intraepithelial neoplasia, anal intraepithelial neoplasia, and vulvar intraepithelial neoplasia is promising. LIMITATIONS:This review was limited by the lack of controls, patients' previous HPV vaccination status, and publication bias. CONCLUSION:The commercially available three-dose, quadrivalent HPV vaccine is a potential therapeutic option for the treatment of cutaneous warts, recurrent respiratory papillomatosis, and squamous and basal cell carcinomas. Noncommercially available HPV vaccines demonstrate therapeutic response for treating anogenital warts, cervical intraepithelial neoplasia, anal intraepithelial neoplasia, and vulvar intraepithelial neoplasia. The vaccine's efficacy as an adjunct therapy for HPV-associated cutaneous and/or mucosal disease warrants further exploration.
METHODS::Our understanding of melanoma precursors and progression to melanoma has developed as a result of advances in the field of molecular diagnostics. We now better understand the potential for genetic heterogeneity within a single lesion. Combined tumors can pose a diagnostic challenge when deciding the line between benign and malignant, which in turn has direct implications for patient management. Primary cilia (PC) are ubiquitous sensory organelles that have essential functions in cellular proliferation, differentiation, and development. The ciliation index (percentage of ciliated melanocytes) has been shown to reliably differentiate melanoma, which fail to ciliate, from melanocytic nevi, which retain PC. We therefore analyzed the potential for using the ciliation index to differentiate benign and malignant components in combined melanocytic lesions. We collected patient samples (n = 10) of unequivocal combined lesions with both melanoma and associated nevus components. Melanocytes were highlighted with SOX10 and costained with gamma-Tubulin and acetylated alpha-Tubulin to highlight the basal body and cilium, respectively. The number of melanocytes retaining cilia under high-power microscopy was examined. The melanoma component had average of 4% ciliation (SD: 7%), whereas the associated nevus component was significantly higher with 59% ciliation (SD: 17%). These data show that PC may be a reliable means of distinguishing benign from malignant components within a single tumor. The ciliation index may be a helpful tool in distinguishing challenging cases of combined lesions of melanoma in situ with a dermal nevus component from invasive melanoma, thus promoting improved staging and clinical management.