Ph1染色体镶嵌现象的意义：6例慢性粒细胞白血病及2例急性髓细胞白血病的报告

The significance of Ph1 mosaicism: a report of six cases of chronic granulocytic leukaemia and two cases of acute myeloid leukaemia.

作者信息

Wayne A W, Sharp J C, Joyner M V, Sterndale H, Pulford K A

出版信息

Br J Haematol. 1979 Nov;43(3):353-60. doi: 10.1111/j.1365-2141.1979.tb03762.x.

DOI:10.1111/j.1365-2141.1979.tb03762.x

Abstract

Six cases of chronic granulocytic leukaemia (CGL) and two cases of acute myeloid leukaemia (AML) with dual populations of karyotypically normal and Philadelphia (Ph1) chromosome-positive cells are described. GTG and QF-banding characterized the Ph1 as resulting from a 9/22 translocation in all eight cases. Four of the patients suffering from CGL presented with 100% Ph1-positive bone marrows, and after receiving intensive chemotherapy, karyotypically normal cells were demonstrated. The other two patients with CGL showed Ph1 mosaicism at presentation. The two patients with AML exhibited Ph1 mosaicism at presentation and throughout the course of the disease. In both of these patients, a marker No. 10 chromosome was found in some of the Ph1-positive cells and in one hyperdiploidy was observed to have developed only in the clone with the additional chromosome anomaly.

摘要

本文描述了6例慢性粒细胞白血病（CGL）和2例急性髓细胞白血病（AML），这些病例的核型正常细胞和费城（Ph1）染色体阳性细胞呈双群存在。在所有8例病例中，GTG和QF显带显示Ph1是由9号和22号染色体易位所致。4例CGL患者的骨髓中Ph1阳性细胞占100%，在接受强化化疗后，出现了核型正常的细胞。另外2例CGL患者初诊时表现为Ph1嵌合体。2例AML患者初诊时及疾病全过程均表现为Ph1嵌合体。在这2例患者中，部分Ph1阳性细胞中发现了10号标记染色体，且在1例患者中观察到仅在伴有额外染色体异常的克隆中出现了超二倍体。