1例伴有骨髓纤维化的髓样化生患者中8号染色体四体与三体共存。

Coexistence of tetrasomy 8 and trisomy 8 in a case with myeloid metaplasia with myelofibrosis.

作者信息

Solé F, de Pablos J M, Woessner S, Pérez M M, Jurado M, Espinet B, Grao P, Moratalla A, Esquivias J

机构信息

Laboratori de Citologia Hematologica, Hospital Central l'Aliança, Barcelona, Spain.

出版信息

Cancer Genet Cytogenet. 1997 Apr;94(2):147-50. doi: 10.1016/s0165-4608(96)00206-3.

DOI:10.1016/s0165-4608(96)00206-3

PMID:9109946

Abstract

We present a case of myeloid metaplasia with myelofibrosis (MM/MF), with tetrasomy 8 as the sole cytogenetic abnormality detected by conventional cytogenetic studies. Tetrasomy 8 was also detected by in situ interphase studies and confirmed by chromosome painting in metaphase. To our knowledge, this is the first case of MM/MF with tetrasomy 8. Noteworthy is the association with neurofibromatosis.

摘要

我们报告一例骨髓化生伴骨髓纤维化（MM/MF）病例，常规细胞遗传学研究检测到的唯一细胞遗传学异常为8号染色体四体。原位间期研究也检测到8号染色体四体，并通过中期染色体涂染得到证实。据我们所知，这是首例伴有8号染色体四体的MM/MF病例。值得注意的是其与神经纤维瘤病的关联。