Intraneural granular cell tumor: Histologic spectrum and histogenetic implication.
- 作者列表："Chow LTC","Chow MBCY
:Granular cell tumor (GCT), despite its putative neural origin, commonly occurs in extraneural sites; only six single case reports of intraneural GCT have been described. We report an unique case as the only one with motor dysfunction, the longest duration of symptoms, and largest tumor size with resultant muscle atrophy and fatty infiltration. Upon review of these cases, the striking feature of intraneural GCT lies in its histologic variety, ranging from benign GCT, through plexiform, hybrid GCT and perineurioma to malignant GCT, encompassing the full spectrum of extraneural GCT. As the immunophenotypes of schwannoma and GCT are not exactly identical, together with evidence from ultrastructural studies, the more reasonable and likely possibility is that GCT originates from undifferentiated mesenchymal cells acquiring partial schwannian differentiation. Such postulation by virtue of the widespread occurrence of mesenchymal cells in the soft tissue, better explains the topographic distribution of GCT in extraneural and intraneural location.
: 颗粒细胞瘤 (GCT)，尽管其假定的神经起源，但通常发生在神经外部位; 仅描述了 6 例神经内GCT的单病例报告。我们报告了一个独特的病例，作为唯一一个伴有运动功能障碍、症状持续时间最长、肿瘤最大且导致肌肉萎缩和脂肪浸润的病例。回顾这些病例，神经内GCT的显著特点在于其组织学多样性，从良性GCT、丛状、杂合型GCT和神经周瘤到恶性GCT，涵盖全谱的神经外GCT。由于神经鞘瘤和GCT的免疫表型不完全相同，加上超微结构研究的证据，更合理和可能的可能性是GCT起源于获得部分雪旺分化的未分化间充质细胞。这种假设凭借间充质细胞在软组织中广泛存在，更好地解释了GCT在神经内外位置的地形分布。
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.