de la Fouchardière Arnaud, Mazzei María Eugenia, Pastor María, Forster Anna-Maria, Prieto Victor G
Department de Biopathologie, Centre Léon Bérard, 28 Rue Laennec, 69008, Lyon, France.
Université de Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée Ligue Contre Le Cancer, Lyon, France.
Virchows Arch. 2025 Jan;486(1):143-164. doi: 10.1007/s00428-024-03958-7. Epub 2024 Nov 6.
Since their initial description in 1948, Spitz tumours have always been a challenge in the field of dermatopathology and paediatric pathology. Advances in molecular pathology have confirmed they are associated with specific anomalies, mainly gene fusions. They display a wide range of clinical presentations and histological subtypes. Most cases are Spitz nevi and very few lesions match the criteria to be diagnosed as atypical Spitz tumours. Even fewer are labelled as Spitz melanomas. Follow-up studies of genetically characterized cases have repeatedly confirmed that, even if the regional lymph node is involved, the overall outcome remains favourable. The aims of this review are to cover the variety of morphological presentations of Spitz tumours and illustrate the most rare subtypes. When possible, we have pointed out the potential trends between some unusual morphological features and the frequently associated genetic drivers. Spitz tumours have many differential diagnoses, the main being superficial spreading melanoma, with overlapping morphological features in early lesions. Essential clues to discriminate Spitz from mimickers have been listed and illustrated.
自1948年首次被描述以来，斯皮茨肿瘤一直是皮肤病理学和儿科病理学领域的一个挑战。分子病理学的进展证实它们与特定异常有关，主要是基因融合。它们表现出广泛的临床表现和组织学亚型。大多数病例是斯皮茨痣，很少有病变符合非典型斯皮茨肿瘤的诊断标准。被标记为斯皮茨黑色素瘤的更少。对具有基因特征的病例的随访研究反复证实，即使区域淋巴结受累，总体预后仍然良好。本综述的目的是涵盖斯皮茨肿瘤的各种形态学表现，并说明最罕见的亚型。在可能的情况下，我们指出了一些不寻常形态特征与常见相关基因驱动因素之间的潜在趋势。斯皮茨肿瘤有许多鉴别诊断，主要是浅表扩散性黑色素瘤，早期病变形态特征重叠。已列出并说明了将斯皮茨与模仿者区分开来的关键线索。
