Hu J, Ren M, Cai X, Lyu J J, Shen X X, Kong Y Y
Department of Pathology, Fudan University Shanghai Cancer Center/Department of Oncology, Shanghai Medical College, Fudan University/Institute of Pathology, Fudan University, Shanghai 200032, China.
Zhonghua Bing Li Xue Za Zhi. 2023 Oct 8;52(10):1006-1011. doi: 10.3760/cma.j.cn112151-20230226-00152.
To investigate the clinicopathological characteristics, immunohistochemical profiles, molecular features, and prognosis of subungual melanoma in situ (SMIS). Thirty cases of SMIS were collected in Fudan University Shanghai Cancer Center, Shanghai, China from 2018 to 2022. The clinicopathological characteristics and follow-up data were retrospectively analyzed. Histopathologic evaluation and immunohistochemical studies were carried out. By using Vysis melanoma fluorescence in situ hybridization (FISH) probe kit, combined with 9p21(CDKN2A) and 8q24(MYC) assays were performed. There were 8 males and 22 females. The patients' ages ranged from 22 to 65 years (median 48 years). All patients presented with longitudinal melanonychia involving a single digit. Thumb was the most commonly affected digit (16/30, 53.3%). 56.7% (17/30) of the cases presented with Hutchinson's sign. Microscopically, melanocytes proliferated along the dermo-epithelial junction. Hyperchromatism and nuclear pleomorphism were two of the most common histological features. The melanocyte count ranged from 30 to 185. Most cases showed small to medium nuclear enlargement (29/30, 96.7%). Pagetoid spread was seen in all cases. Intra-epithelial mitoses were identified in 56.7% (17/30) of the cases. Involvement of nailfold was found in 19 cases, 4 of which were accompanied by cutaneous adnexal extension. The positive rates of SOX10, PNL2, Melan A, HMB45, S-100, and PRAME were 100.0%, 100.0%, 96.0%, 95.0%, 76.9%, and 83.3%, respectively. FISH analysis was positive in 6/9 of the cases. Follow-up data were available in 28 patients, and all of them were alive without disease. SMIS mainly shows small to medium-sized cells. High melanocyte count, hyperchromatism, nuclear pleomorphism, Pagetoid spreading, intra-epithelial mitosis, nailfold involvement, and cutaneous adnexal extension are important diagnostic hallmarks. Immunohistochemistry including SOX10 and PRAME, combined with FISH analysis, is valuable for the diagnosis of SMIS.
探讨原位甲下黑色素瘤（SMIS）的临床病理特征、免疫组化谱、分子特征及预后。2018年至2022年期间，在中国上海复旦大学附属肿瘤医院收集了30例SMIS病例。对其临床病理特征及随访数据进行回顾性分析。进行了组织病理学评估和免疫组化研究。使用Vysis黑色素瘤荧光原位杂交（FISH）探针试剂盒，结合9p21（CDKN2A）和8q24（MYC）检测。患者中男性8例，女性22例。年龄范围为22至65岁（中位年龄48岁）。所有患者均表现为累及单指的纵向黑甲。拇指是最常受累的手指（16/30，53.3%）。56.7%（17/30）的病例出现Hutchinson征。显微镜下，黑素细胞沿真皮 - 上皮交界处增殖。色素沉着过度和核多形性是最常见的两种组织学特征。黑素细胞计数范围为30至185。大多数病例显示核轻度至中度增大（29/30，96.7%）。所有病例均可见派杰样扩散。56.7%（17/30）的病例发现上皮内有丝分裂。19例发现甲襞受累，其中4例伴有皮肤附属器浸润。SOX10、PNL2、Melan A、HMB45、S - 100和PRAME的阳性率分别为100.0%、100.0%、96.0%、95.0%、76.9%和83.3%。FISH分析9例中有6例呈阳性。28例患者有随访数据，所有患者均存活且无疾病。SMIS主要表现为中小细胞型。黑素细胞计数高、色素沉着过度、核多形性、派杰样扩散、上皮内有丝分裂、甲襞受累及皮肤附属器浸润是重要的诊断标志。包括SOX10和PRAME在内的免疫组化，结合FISH分析，对SMIS的诊断有重要价值。
