Alhourani Eyad, Rincic Martina, Melo Joana B, Carreira Isabel M, Glaser Anita, Pohle Beate, Schlie Cordula, Liehr Thomas
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany.
Croatian Institute of Brain Research, Salata 12, 1000 Zagreb, Croatia.
Leuk Res Treatment. 2015;2015:489592. doi: 10.1155/2015/489592. Epub 2015 Nov 30.
In chronic lymphocytic leukemia (CLL), presence of acquired cytogenetic abnormalities may help to estimate prognosis. However, deletion of TP53 gene, which is associated with an aggressive course of the disease and poor prognosis along with a lack of response to treatment, is one of the alterations which may escape cytogenetic diagnoses in CLL. Thus, other techniques have emerged such as interphase fluorescence in situ hybridization (iFISH). Deletion of TP53 may but must not go together with the formation of an isochromosome i(17q); surprisingly this subgroup of patients was not in the focus of CLL studies yet. This study was about if presence of i(17q) could be indicative for a new subgroup in CLL with more adverse prognosis. As a result, TP53 deletion was detected in 18 out of 150 (12%) here studied CLL cases. Six of those cases (~33%) had the TP53 deletion accompanied by an i(17q). Interestingly, the cases with i(17q) showed a tendency towards more associated chromosomal aberrations. These findings may be the bases for follow-up studies in CLL patients with TP53 deletion with and without i(17q); it may be suggested that the i(17q) presents an even more adverse prognostic marker than TP53 deletion alone.
在慢性淋巴细胞白血病（CLL）中，获得性细胞遗传学异常的存在可能有助于评估预后。然而，TP53基因缺失与疾病的侵袭性病程、预后不良以及对治疗缺乏反应相关，是CLL中可能逃避细胞遗传学诊断的改变之一。因此，诸如间期荧光原位杂交（iFISH）等其他技术应运而生。TP53缺失可能但不一定与等臂染色体i(17q)的形成同时出现；令人惊讶的是，这一患者亚组尚未成为CLL研究的重点。本研究旨在探讨i(17q)的存在是否可指示CLL中预后更差的一个新亚组。结果，在本研究的150例CLL病例中，有18例（12%）检测到TP53缺失。其中6例（约33%）的TP53缺失伴有i(17q)。有趣的是，伴有i(17q)的病例显示出更多相关染色体畸变的倾向。这些发现可能是对伴有和不伴有i(17q)的TP53缺失的CLL患者进行随访研究的基础；可能提示i(17q)是比单独的TP53缺失更不良的预后标志物。
