三岁印尼女性儿童口腔原始神经外胚层肿瘤合并下颌骨淋巴结病:一罕见病例报告

Chandra Analis Permatasari, Dewi Haryanti Kurniasih
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摘要

原始神经外胚层肿瘤(PNETs)是一种罕见的侵袭性恶性肿瘤,起源于中枢神经系统的原始神经嵴细胞,在软组织中发现的外周变异体称为外周PNETs (pPNETs)。诊断PNETs具有挑战性,因为它们罕见且与其他肿瘤条件(如尤文氏肉瘤和横纹肌肉瘤)相似。病例介绍:一名3岁女童,嘴唇肿块增大,导致嘴巴和双鼻孔阻塞,影响日常生活。检查发现不规则肿块,伴有组织坏死和出血。血液检查和头部CT扫描显示良性肿块,可能是血管瘤,伴下颌下淋巴结病和白细胞增多。患者接受了清创手术和随后的手术切除部分肿块进行组织病理学分析。结果显示为原始神经外胚层肿瘤,特别是婴儿期黑色素神经外胚层肿瘤(MNTI)。讨论:外周PNETs更常见于老年人,腹部/盆腔和胸肺病变最常见。我们的病例是一个3岁的印度尼西亚儿童,有明显的口腔PNET,在年龄和种族群体中被认为是罕见的。结论:一名三岁印度尼西亚女童在下颌下区域出现外周PNET的病例在年龄、肿瘤位置、种族和民族方面都是罕见的。临床医生应该意识到这种罕见的可能性,并遵循彻底的组织病理学和免疫组织化学测试,以建立准确的诊断。
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Oral primitive neuroectodermal tumor associated with mandibular lymphadenopathy in three-year-old female Indonesian children: A rare case report
Introduction: Primitive neuroectodermal tumors (PNETs) are rare and aggressive malignancies derived from primitive neural crest cells in the CNS, with peripheral variants known as peripheral PNETs (pPNETs) found in soft tissues. Diagnosing PNETs is challenging due to their rarity and resemblance to other neoplastic conditions like Ewing's sarcoma and rhabdomyosarcoma. Case Presentation: A 3-year-old female child presented with a growing bump on her lips, causing obstruction of the mouth and both of the nostrils hence impairing daily living. Examination revealed an irregular mass with signs of tissue necrosis and bleeding. A blood test and head CT scan indicated a benign mass, potentially a hemangioma, with submandibular lymphadenopathy and leukocytosis. The patient underwent a debridement procedure and a subsequent operation to excise part of the mass for histopathological analysis. The results revealed a primitive neuroectodermal tumor, specifically a melanotic neuroectodermal tumor of infancy (MNTI). Discussion: Peripheral PNETs are more commonly seen in older individuals with abdominal/pelvic and thoracic-pulmonary lesions being the most frequent. Our case of a 3-year- old Indonesian child with a distinct oral cavity PNET is considered rare among the age and race groups. Conclusion: The case of a three-year-old Indonesian female child with peripheral PNET in the submandibular region is an uncommon presentation in terms of age, tumor location, race, and ethnicity. Clinicians should be aware of such rare possibilities and follow thorough histopathology and immunohistochemistry tests to establish an accurate diagnosis.
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