Khoddami M, Squire J, Zielenska M, Thorner P
Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
Pediatr Dev Pathol. 1998 Jul-Aug;1(4):295-9. doi: 10.1007/s100249900042.
Melanotic neuroectodermal tumor of infancy is a rare but well-recognized entity in pediatric pathology. However, the relationship of this tumor to other pediatric small cell tumors with neuroectodermal features (such as neuroblastoma, Ewing sarcoma/peripheral primitive neuroectodermal tumor, and desmoplastic small round cell tumor) is undetermined. Molecular genetic studies of melanotic neuroectodermal tumor of infancy have not been reported. We studied three typical cases of melanotic neuroectodermal tumor of infancy in an attempt to link this tumor to other small cell tumors with well-characterized molecular genetic changes. Tests performed included: detection of MYCN gene amplification and deletion of 1p (all 3 cases), and presence of the t(11;22)(q24;q12) and the t(11;22)(p13;q12) translocations (2 of 3 cases). None of these tests yielded positive results. Thus, there is no genetic basis at present to link melanotic neuroectodermal tumor of infancy to neuroblastoma, Ewing sarcoma/peripheral primitive neuroectodermal tumor, or desmoplastic small round cell tumor.
婴儿黑色素性神经外胚层肿瘤是儿科病理学中一种罕见但已被充分认识的实体。然而，这种肿瘤与其他具有神经外胚层特征的儿科小细胞肿瘤（如神经母细胞瘤、尤因肉瘤/外周原始神经外胚层肿瘤和促纤维组织增生性小圆细胞肿瘤）之间的关系尚未确定。关于婴儿黑色素性神经外胚层肿瘤的分子遗传学研究尚未见报道。我们研究了3例典型的婴儿黑色素性神经外胚层肿瘤病例，试图将这种肿瘤与其他具有明确分子遗传学改变的小细胞肿瘤联系起来。所进行的检测包括：检测MYCN基因扩增和1p缺失（所有3例），以及检测t(11;22)(q24;q12)和t(11;22)(p13;q12)易位（3例中的2例）。这些检测均未得出阳性结果。因此，目前尚无遗传学依据将婴儿黑色素性神经外胚层肿瘤与神经母细胞瘤、尤因肉瘤/外周原始神经外胚层肿瘤或促纤维组织增生性小圆细胞肿瘤联系起来。
