Yadav Vineeta, Raveendranath Veeramani, Ganesan Prasanth, Kar Rakhee, R Priyadharshini, Manivannan Prabhu
Anatomy, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry, IND.
Oncology, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry, IND.
Cureus. 2024 Sep 5;16(9):e68735. doi: 10.7759/cureus.68735. eCollection 2024 Sep.
Introduction Acute lymphoblastic leukemia (ALL) has suboptimal survival rates for adolescents and young adults (AYA) as compared to children. Very limited studies have been conducted on AYA patients in India. This study aimed to identify the cytogenetic and immunophenotype characteristics of B-cell ALL (B-ALL) in AYA patients and determine its correlation with clinicopathological parameters in the Southern India region. Method The study was a prospective study conducted for three years, from June 2019 to May 2022, in India. Newly diagnosed 90 patients with AYA (13-40 years) ALL were recruited. A B-ALL diagnosis was made based on morphology with cytochemical stains and immunophenotype by flow cytometry (FCM). Cytogenetic analysis was also performed using karyotyping and fluorescent in situ hybridization to identify chromosomal aberrations. The cytogenetics results were correlated with immunophenotyping and clinicopathological characteristics. Variables were analyzed using the Mann-Whitney U test and Chi-square test using IBM SPSS Statistics for Windows, Version 20.0 (Released 2011; IBM Corp., Armonk, NY, USA). Results The mean age was 22.68 ± 8.06 years. It was observed that the most common structural chromosomal abnormality for AYA was t(9;22) in 14 (15%) cases, followed by 6q deletions in seven (8%) cases, t(1;19) in four (4%) cases, and t(12;17) and t(6;14) in two (2%) cases each. In addition, t(3;12), t(2;11), t(12;21), t(1;9), t(2;12), and t(X;10) were found in one (1%) case each. The most common numerical abnormality was hyperdiploidy (15; 17%), followed by hypodiploidy (10; 11%). Further, myeloid antigen expression of CD33 was the most common aberrantly expressed marker found in 20 (28%) cases, followed by CD15 in three cases (5%), CD13 in three (4%) cases, and CD11b in two (3%) cases. It was also observed that in Ph+ve cases, CD33 and CD13 were most commonly expressed in three (33%) and two (17%) cases, respectively. In contrast, in Ph-ve patients, their expressions were lesser at 17 (27%) and one (2%) cases, respectively. In addition, leukemia-associated immunophenotype pattern (LAIP) markers CD44 6 (86%) and CD123 5 (55%) were also found to be significantly associated with Ph+ve, whereas their values in the Ph-ve group were lesser at 25 (42%) and 9 (17%), respectively. Our data also showed that older age wassignificantly associated with Ph+ve with a median age of 30 years (p = 0.012). In comparison, the median age of Ph-ve was only 21 years. Conclusion Our study established that the incidence of cytogenetic abnormalities for AYA was consistent with previously reported data. This study reaffirms that Ph+ve cases have significant associations with MyAg (CD13), LAIP (CD123 and CD44), and older age for the South Indian population.
引言 与儿童相比,青少年和青年急性淋巴细胞白血病(ALL)患者的生存率并不理想。在印度,针对青少年和青年患者的研究非常有限。本研究旨在确定印度南部地区青少年和青年B细胞急性淋巴细胞白血病(B-ALL)患者的细胞遗传学和免疫表型特征,并确定其与临床病理参数的相关性。
方法 本研究是一项前瞻性研究,于2019年6月至2022年5月在印度进行了三年。招募了90例新诊断的青少年和青年(13-40岁)ALL患者。根据形态学、细胞化学染色以及流式细胞术(FCM)免疫表型诊断B-ALL。还使用核型分析和荧光原位杂交进行细胞遗传学分析,以识别染色体畸变。将细胞遗传学结果与免疫表型和临床病理特征进行关联分析。使用IBM SPSS Statistics for Windows 20.0版(2011年发布;IBM公司,美国纽约州阿蒙克)进行Mann-Whitney U检验和卡方检验分析变量。
结果 平均年龄为22.68±8.06岁。观察到青少年和青年患者最常见的结构染色体异常是t(9;22),共14例(15%),其次是6q缺失7例(8%),t(1;19) 4例(4%),t(12;17)和t(6;14)各2例(2%)。此外,t(3;12)、t(2;11)、t(12;21)、t(1;9)、t(2;12)和t(X;10)各1例(1%)。最常见的数目异常是超二倍体(15例;17%),其次是亚二倍体(10例;11%)。此外,CD33的髓系抗原表达是最常见的异常表达标志物,共20例(28%),其次是CD15 3例(5%),CD13 3例(4%),CD11b 2例(3%)。还观察到,在Ph阳性病例中,CD33和CD13最常分别在3例(33%)和2例(17%)中表达。相比之下,在Ph阴性患者中,其表达分别为17例(27%)和1例(2%),较低。此外,白血病相关免疫表型模式(LAIP)标志物CD44 6例(86%)和CD123 5例(55%)也被发现与Ph阳性显著相关,而它们在Ph阴性组中的值分别较低,为25例(42%)和9例(17%)。我们的数据还表明,年龄较大与Ph阳性显著相关,中位年龄为30岁(p = 0.012)。相比之下,Ph阴性的中位年龄仅为21岁。
结论 我们的研究表明,青少年和青年患者细胞遗传学异常的发生率与先前报道的数据一致。本研究再次证实,对于印度南部人群,Ph阳性病例与髓系相关抗原(MyAg,CD13)、白血病相关免疫表型模式(LAIP,CD123和CD44)以及年龄较大显著相关。