隐匿型t(15;17)易位伴inv(11)(p12q23)核型的急性早幼粒细胞白血病

ABNORMAL CHROMOSOME KARYOTYPE OF CRYPTIC TRANSLOCATION (15;17) AND INVERSION(11) (p12q23) IN A PATIENT WITH ACUTE PROMYELOCYTIC LEUKEMIA

为进一步探讨无ｔ（１５；１７）易位而伴有其它染色体改变的急性早幼粒细胞白血病（ＡＰＬ）患者分子生物学变化与预后的关系，应用短期细胞培养、胰酶消化、Ｇ显带技术进行骨髓细胞染色体检测及使用巢式ＲＴ／ＰＣＲ技术检测ＰＭＬ／ＲＡＲａ融合基因及ＨＲＸ基因。在被检测的３２例ＡＲＬ患者中，发现１例４６，ＸＸ，ｉｎｖ（１１）（ｐ１２ｑ２３），无ｔ（１５；１７）易位的ＡＰＬ患者。分子生物学见ＰＭＬ／ＲＡＲａ融合基因转录本，未见ＨＲＸ基因重排。该患者使用全反式维甲酸诱导治疗１０５天，无缓解征象，改用ＨＯＡＰ方案化疗也未显效。

To explore further the relationship between molecular biology changes and prognosis in patients suffering from acute promyelocytic leukemia without translocation (15;17) but with other chromosome alteration, cytogenetic studies were carried out in 32 patients with acute promyelocytic leukemia. One patient, with an abnormal karyotype 46, XX, inv (11) (p12q23) was found lack of translocation (15;17). RT PCR studies in this case showed a transcription of the PML RARa fusion gene instead of a rearrangement of HRX (homolog of drosophila trithorax) gene. In clinics, the patient did not obtain a complete remission after a treatment of all trans retinoic acid for 105 days. As an alternative, the patient received“HOAP” group chemotheropy afterwards; finaly, he developed hematencephalon and died on the 3rd day of the chemotherapy.