Nayak Rumela, Rima S, Bn Nandeesh, Rao Shilpa, Vazhayil Vikas, Sadashiva Nishanth, Yerramilli Sripartha Krishna
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Hosur Road, Bengaluru, 560029, India.
Childs Nerv Syst. 2024 Dec 3;41(1):29. doi: 10.1007/s00381-024-06683-3.
Melanotic neuroectodermal tumor of infancy (MNTI) is a rare, rapidly growing pigmented neoplasm originating from the neural crest. Predominantly affecting infants, it commonly occurs in the head and neck region. MNTI is often locally aggressive with a high recurrence rate. It can be clinically and histologically confused with high-grade malignancies despite being considered benign. We present four cases diagnosed as MNTI through histopathological examination alongside a literature review and would like to study the clinico-radiological findings and histopathological spectrum of this rare entity.
This retrospective study (January 2018-March 2024) included cases diagnosed histologically as MNTI. Clinical data, including age, gender, and presentation, were collected. Histological and immunohistochemical analyses were performed using various markers.
Four cases (age range, 4-17 months; mean, 5.2 months) were analyzed. Males were more affected than females (3:1). All presented with scalp swelling. MRI revealed large extra-axial masses with varying contrast enhancement. Histopathology showed biphasic cellular morphology with primitive small round cells and epithelioid cells containing melanin. All cases exhibited brisk mitotic activity and extensive desmoplasia. Immunohistochemically, primitive cells were strongly positive for synaptophysin, while epithelioid cells were positive for cytokeratin and HMB45. Ki-67 indices ranged from 30 to 80%. Follow-up revealed one patient succumbed to sepsis and one had a recurrence.
Understanding the clinical and pathological spectrum of MNTI is essential for accurate diagnosis and effective treatment. This study contributes to the existing knowledge by expanding the cohort and enhancing the understanding of this rare tumor.
婴儿黑色素性神经外胚层肿瘤（MNTI）是一种罕见的、生长迅速的色素性肿瘤，起源于神经嵴。主要影响婴儿，常见于头颈部区域。MNTI通常具有局部侵袭性，复发率高。尽管被认为是良性肿瘤，但在临床和组织学上它可能会与高级别恶性肿瘤相混淆。我们通过组织病理学检查报告4例被诊断为MNTI的病例，并进行文献复习，旨在研究这种罕见疾病的临床放射学表现和组织病理学特征。
本回顾性研究（2018年1月至2024年3月）纳入了经组织学诊断为MNTI的病例。收集了包括年龄、性别和临床表现等临床数据。使用多种标志物进行组织学和免疫组织化学分析。
分析了4例病例（年龄范围4至17个月；平均5.2个月）。男性受累多于女性（3:1）。所有病例均表现为头皮肿胀。MRI显示巨大的轴外肿块，有不同程度的对比增强。组织病理学显示具有原始小圆形细胞和含黑色素的上皮样细胞的双相细胞形态。所有病例均表现出活跃的有丝分裂活性和广泛的促纤维增生。免疫组织化学显示，原始细胞突触素呈强阳性，而上皮样细胞细胞角蛋白和HMB45呈阳性。Ki-67指数范围为30%至80%。随访发现1例患者死于败血症，1例复发。
了解MNTI的临床和病理特征对于准确诊断和有效治疗至关重要。本研究通过扩大病例队列和增强对这种罕见肿瘤的认识，为现有知识做出了贡献。
