通过多重荧光原位杂交技术鉴定出的胸膜肺母细胞瘤中的隐匿性染色体异常。

Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH.

作者信息

Quilichini Benoit, Andre Nicolas, Bouvier Corinne, Chrestian Marie-Anne, Rome Angelique, Intagliata Dominique, Coze Carole, Lena Gabriel, Zattara Helene

机构信息

Département de Génétique Médicale, CHU-Hôpital d'Enfants La Timone, Bd Jean Moulin, 13385 Marseille Cedex 5, France.

出版信息

BMC Cancer. 2006 Jan 5;6:4. doi: 10.1186/1471-2407-6-4.

DOI:10.1186/1471-2407-6-4

PMID:16396677

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1361803/

Abstract

BACKGROUND

Pleuropulmonary blastoma (PPB) is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour.

CASES PRESENTATION

We report pathological and cytogenetic findings in two cases of PPB at initial diagnosis and recurrence. Both tumors were classified as type III pneumoblastoma and histological findings were similar at diagnosis and relapse. In both cases, conventional cytogenetic techniques revealed complex numerical and structural chromosomal abnormalities. Molecular cytogenetic analysis (interphase/metaphase FISH and multicolor FISH) identified accurately chromosomal aberrations. In one case, TP53 gene deletion was detected on metaphase FISH. To date, only few cytogenetic data have been published about PPB.

CONCLUSION

The PPB genetic profile remains to be established and compared to others embryonal neoplasia. Our cytogenetic data are discussed reviewing cytogenetics PPBs published cases, illustrating the contribution of multicolor FISH in order to identify pathogenetically important recurrent aberrations in PPB.

摘要

背景

肺胸膜母细胞瘤（PPB）是一种罕见的儿童期发育异常性胸内肿瘤，临床行为不良。

病例报告

我们报告了两例PPB初诊及复发时的病理和细胞遗传学 findings。两个肿瘤均被分类为III型肺母细胞瘤，诊断及复发时的组织学 findings 相似。在这两个病例中，传统细胞遗传学技术均显示出复杂的染色体数目和结构异常。分子细胞遗传学分析（间期/中期荧光原位杂交及多色荧光原位杂交）准确地识别出了染色体畸变。在一个病例中，中期荧光原位杂交检测到TP53基因缺失。迄今为止，关于PPB的细胞遗传学数据报道较少。