Clinical medicine of Basic Medical College, HeBei Medical university, Shijiazhuang, Hebei, P. R. China.
Department of Pathology, The Third Affiliated Hospital of Hebei Medical University, Shijiazhuang, Hebei, P. R. China.
Medicine (Baltimore). 2023 Jun 23;102(25):e34034. doi: 10.1097/MD.0000000000034034.
Malignant melanoma (MM) is notorious for its remarkable morphological variation and aberrant histopathological patterns. In addition, Malignant Periopheral Nerve Sheath Tumor (MPNST) is an uncommon but aggressive soft tissue sarcoma. Because of the common embryological origin of melanocytes and Schwann cells in the neural crest, discriminating between a particular type of MM and MPNST can be difficult, particularly when they are amelanotic. Our goal is to increase awareness among clinicians of the rare variations of MM and the importance of medical history in improving the accuracy of the final clinical diagnosis.
A 68-year-old man was admitted to the hospital due to pain in his right ankle, which had persisted for 8 months, along with swelling for 4 months. Medical history revealed delayed healing of right plantar for 5 years after a traumatic injury.
The ankle mass was initially diagnosed as MPNST through biopsy. After reviewing the patient's medical history and receiving the final pathological report following amputation, we have revised the diagnosis to metastatic amelanotic desmoplastic melanoma in the ankle part and lentigo maligna melanoma in the plantar part. This is due to both lesions displaying positive markers or mutated genes in immunohistology and Gene Mutation Detection, indicating homology between the 2 tumors.
Due to the malignant characteristics of the tumor and the patient's wishes, amputation of the right lower leg was carried out.
Subsequently, the patient was treated with interferon-γ and immunosuppressant PD-1 inhibitor, and survived for 1 year after amputation.
Clinical data, immunohistochemisty biomarkers and genes detection results can serve as valuable evidence for pathologists and clinicians in identifying the disease process. Collaborative efforts between clinicians and scientists are crucial in order to identify specific markers that can effectively differentiate between the 2 tumors, thereby enhancing the conclusiveness of the diagnosis.
恶性黑色素瘤（MM）以其显著的形态学变异和异常的组织病理学模式而臭名昭著。此外，恶性周围神经鞘瘤（MPNST）是一种罕见但侵袭性的软组织肉瘤。由于黑色素细胞和神经嵴中的施万细胞具有共同的胚胎起源，因此区分特定类型的 MM 和 MPNST 可能很困难，尤其是当它们无色素时。我们的目标是提高临床医生对 MM 的罕见变异和病史对提高最终临床诊断准确性的重要性的认识。
一名 68 岁男性因右踝关节疼痛 8 个月伴肿胀 4 个月入院。病史显示，右足底创伤性损伤后愈合延迟 5 年。
踝关节肿块最初通过活检诊断为 MPNST。在回顾了患者的病史并在截肢后收到最终的病理报告后，我们将诊断修改为右踝部分转移性无色素性促结缔组织增生性黑色素瘤和足底部分恶性雀斑样黑色素瘤。这是因为两个病变在免疫组织化学和基因突变检测中都显示出阳性标志物或基因突变，表明这两个肿瘤具有同源性。
由于肿瘤的恶性特征和患者的意愿，对右小腿进行了截肢。
随后，患者接受了干扰素-γ和免疫抑制剂 PD-1 抑制剂治疗，截肢后存活了 1 年。
临床数据、免疫组化生物标志物和基因检测结果可作为病理学家和临床医生识别疾病过程的有价值证据。临床医生和科学家之间的合作对于确定能够有效区分这两种肿瘤的特定标志物至关重要，从而提高诊断的结论性。
