Sebire N J, Malone M
Department of Histopathology, Camelia Botnar Laboratories, Great Ormond Street Hospital, Great Ormond Street, London GU21 2FB, UK.
J Clin Pathol. 2003 Jun;56(6):412-6. doi: 10.1136/jcp.56.6.412.
The diagnosis of paediatric solid tumours is often based on small tissue needle biopsies in which many different entities demonstrate a "small round cell tumour" phenotype and in which there may be insufficient tissue to allow the interpretation of diagnostic architectural features, which may be present in larger specimens. Therefore, the extensive use of a panel of immunohistochemical markers is part of the routine handling and investigation of such biopsies to reach a definite diagnosis. However, in some cases the morphological and routine immunohistochemical findings may be insufficient for a precise diagnosis or they may be difficult to interpret in the given clinical context. Although many paediatric tumours exhibit characteristic chromosomal translocations with resultant specific fusion transcripts, these require molecular methods for their detection, usually on fresh tissue samples, which may not always be available. As more immunohistochemical markers become available, more precise diagnosis on such small biopsies may be possible. This review examines the use of the immunohistochemical markers, MyoD1 and myogenin, in the diagnosis of paediatric rhabdomyosarcoma, including its subtypes.
小儿实体瘤的诊断通常基于小组织针吸活检,其中许多不同的实体表现出“小圆细胞肿瘤”表型,并且可能没有足够的组织来解读诊断性结构特征,而这些特征可能存在于更大的标本中。因此,广泛使用一组免疫组化标志物是此类活检常规处理和检查的一部分,以达成明确诊断。然而,在某些情况下,形态学和常规免疫组化结果可能不足以进行精确诊断,或者在给定的临床背景下可能难以解读。尽管许多小儿肿瘤表现出特征性的染色体易位并产生特定的融合转录本,但这些需要分子方法进行检测,通常是在新鲜组织样本上,而新鲜组织样本可能并不总是可得。随着更多免疫组化标志物的出现,对这类小活检进行更精确的诊断成为可能。本综述探讨了免疫组化标志物MyoD1和肌细胞生成素在小儿横纹肌肉瘤(包括其亚型)诊断中的应用。