Third Department of Surgery, First Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
Diagn Pathol. 2020 Oct 25;15(1):132. doi: 10.1186/s13000-020-01046-3.
Spitzoid melanocytic lesions represent a heterogeneous group of proliferations with ambiguous and overlapping terminology. The exact distinction of a Spitz nevus from a Spitzoid melanoma can be very difficult or, in some cases, impossible. Among the Spitzoid lesions, there is a lesion termed an atypical Spitz tumour (AST) that has intermediate histopathologic features between those of a Spitz nevus and a Spitzoid melanoma and thus uncertain malignant potential. There are several rare cases of patients with a Spitzoid melanoma initially misdiagnosed as a Spitz nevus or an AST with fatal consequences. It is, therefore, advised to perform a molecular characterization in cases where uncertain skin lesions are presented, as it may provide extended set of information with a possible impact on the treatment options. Furthermore, preventive measures, such as regular physical and skin examinations, as well as thorough scheduling of individual follow-up visits, are essential in patients with potentially malignant skin nevi.
We report a case of a young adult female with a history of AST excision with a negative sentinel lymph node biopsy (SLNB) and insufficient follow-up. Four years after the primary dermatological diagnosis, she presented with a giant tumour in the right hemithorax. Radical en bloc resection of the tumour with right pneumonectomy and resection of the pericardium with reconstruction of the pericardium using mesh was performed. A definitive histopathological examination revealed a metastatic melanoma. The association of the previously diagnosed AST and subsequent appearance of melanoma metastases led to a retrospective re-evaluation of the initial lesion. The suspected diagnosis of Spitzoid melanoma, however, was not confirmed. Moreover, the molecular examination revealed a major discordance between the initial lesion and the lung tumour, which most likely excluded the possible association of the lung metastasis with the initial skin lesion. The initial skin lesion was a BRAF-mutant melanoma with Spitzoid features and termed as AST, while the giant lung metastasis was NRAS-mutant melanoma. The subsequent postoperative course was complicated by the appearance of brain metastases that were stereotactically irradiated. Nevertheless, despite complex specialised medical care, the patient's clinical condition rapidly deteriorated. By this time, no active oncological treatment was possible. The patient was delegated to local hospice for palliative care six months after the surgery and died three weeks later.
Our patient was surgically treated at the age of 20 for AST and died four years later of metastatic NRAS-mutant melanoma most likely of different occult origin. Molecular characterization, as well as the close clinical follow-up should be always precisely performed in patients with uncertain skin lesions, such as AST.
Spitz 样黑色素细胞病变是一组具有异质性的增殖，其术语具有模糊性和重叠性。准确区分 Spitz 痣与 Spitz 样黑色素瘤可能非常困难，在某些情况下甚至不可能。在 Spitz 样病变中，有一种病变称为非典型 Spitz 肿瘤（AST），其组织病理学特征介于 Spitz 痣和 Spitz 样黑色素瘤之间，因此恶性潜能不确定。有少数病例患者的 Spitz 样黑色素瘤最初被误诊为 Spitz 痣或 AST，导致致命后果。因此，对于不确定的皮肤病变，建议进行分子特征分析，因为它可能提供更广泛的信息，并可能对治疗选择产生影响。此外，对于有潜在恶性皮肤痣的患者，定期进行身体和皮肤检查以及仔细安排个体随访是至关重要的。
我们报告了一例年轻成年女性病例，她曾因 AST 切除接受过阴性前哨淋巴结活检（SLNB）和随访不足。在初次皮肤科诊断后 4 年，她右侧胸腔出现巨大肿瘤。进行了肿瘤的根治性整块切除术，包括右肺切除术和心包切除术，并使用网片重建心包。明确的组织病理学检查显示转移性黑色素瘤。先前诊断的 AST 与随后出现的黑色素瘤转移的关联导致对初始病变进行了回顾性重新评估。然而，疑似 Spitz 样黑色素瘤的诊断并未得到确认。此外，分子检查显示初始病变和肺肿瘤之间存在明显的不一致，这很可能排除了肺转移与初始皮肤病变之间的可能关联。初始皮肤病变是一种具有 Spitz 样特征的 BRAF 突变黑色素瘤，称为 AST，而巨大的肺转移瘤是 NRAS 突变黑色素瘤。随后的术后过程因出现脑转移而复杂化，这些脑转移通过立体定向放疗进行了治疗。尽管接受了复杂的专业医疗护理，但患者的临床状况迅速恶化。此时，无法进行有效的肿瘤治疗。术后 6 个月，患者被派往当地临终关怀机构进行姑息治疗，并在 3 周后死亡。
我们的患者在 20 岁时因 AST 接受了手术治疗，4 年后死于可能来自不同隐匿部位的转移性 NRAS 突变黑色素瘤。对于 AST 等不确定皮肤病变，应始终进行精确的分子特征分析和密切的临床随访。
