Surgical Pathology and Cytopathology Unit, Department of Medicine (DIMED), University of Padua, 35121 Padua, Italy.
Pathological Anatomy Unit, University Hospital of Padua, 35121 Padua, Italy.
Int J Mol Sci. 2022 Apr 11;23(8):4211. doi: 10.3390/ijms23084211.
Spitz neoplasms are a heterogeneous group of melanocytic proliferations with a great variability in the histological characteristics and in the biological behavior. Thanks to recent discoveries, the morpho-molecular landscape of Spitz lineage is becoming clearer, with the identification of subtypes with recurrent features thus providing the basis for a more solid and precise tumor classification. Indeed, specific mutually exclusive driver molecular events, namely or mutations, copy number gains of 11p, and fusions involving and genes, correlate with distinctive histological features. The accumulation of further molecular aberrations, instead, promotes the increasing malignant transformation of Spitz neoplasms. Thus, the detection of a driver genetic alteration can be achieved using the appropriate diagnostic tests chosen according to the histological characteristics of the lesion. This allows the recognition of subtypes with aggressive behavior requiring further molecular investigations. This review provides an update on the morpho-molecular correlations in Spitz neoplasms.
Spitz 肿瘤是一组具有高度异质性的黑色素细胞增生,其组织学特征和生物学行为变化很大。由于最近的发现,Spitz 谱系的形态-分子特征变得更加清晰,具有反复出现特征的亚型被识别出来,从而为更坚实和精确的肿瘤分类提供了基础。事实上,特定的相互排斥的驱动分子事件,即 或 突变、11p 拷贝数增加,以及涉及 和 基因的融合,与独特的组织学特征相关。而进一步的分子异常的积累,则促进了 Spitz 肿瘤恶性转化的增加。因此,通过根据病变的组织学特征选择适当的诊断测试,可以检测到驱动基因改变。这可以识别出具有侵袭性行为的亚型,需要进一步的分子研究。本文综述了 Spitz 肿瘤的形态-分子相关性的最新进展。