初发时伴有t(8;21)和t(9;22)的继发性急性早幼粒细胞白血病，复发时费城染色体缺失。

Secondary acute promyelocytic leukemia with t(8;21) and t(9;22) at onset and loss of the Philadelphia chromosome at relapse.

作者信息

Dallorso S, Sessarego M, Garré M L, Haupt R, Pasino M, Sansone R

机构信息

Division of Pediatric Hematology/Oncology, G. Gaslini Children's Hospital, Genova, Italy.

出版信息

Cancer Genet Cytogenet. 1990 Jul 1;47(1):41-6. doi: 10.1016/0165-4608(90)90260-h.

DOI:10.1016/0165-4608(90)90260-h

PMID:2357686

Abstract

The translocation (8;21) is a typical marker of the M2 subtype of acute nonlymphocytic leukemia, whereas the Philadelphia (Ph) chromosome is predominantly associated with chronic myelogenous leukemia, and seldom with immature acute leukemias, either lymphoblastic or nonlymphoblastic. Furthermore, the association between t(8;21) and a Ph in the same cell is extremely rare. We present a case of secondary acute promyelocytic leukemia with a karyotype 46,XY,t(8;21), t(9;22) at onset. At relapse the patient lost the Ph, while maintaining the t(8;21). This apparently paradoxical pattern of cytogenetic features and evolution is discussed.

摘要

易位（8；21）是急性非淋巴细胞白血病M2亚型的典型标志物，而费城（Ph）染色体主要与慢性粒细胞白血病相关，很少与未成熟的急性白血病相关，无论是淋巴细胞性还是非淋巴细胞性。此外，同一细胞中t（8；21）与Ph的关联极为罕见。我们报告一例继发性急性早幼粒细胞白血病病例，发病时核型为46，XY，t（8；21），t（9；22）。复发时患者丢失了Ph染色体，同时保留了t（8；21）。本文讨论了这种明显矛盾的细胞遗传学特征及演变模式。