Colon-Otero Gerardo, Van Wier Scott A, Ahmann Greg J, Braggio Esteban, Albertie Monica L, Weis Jennifer A, Ailawadhi Sikander, Cerhan James R, Vishnu Prakash, Jorgensen Matthew S, Foran James M, Thomas Colleen S, Fonseca Rafael
Division of Hematology and Oncology, Mayo Clinic, 4500 San Pablo Road, 32224, Jacksonville, FL, USA.
Division of Hematology and Oncology, Mayo Clinic, Phoenix, AZ, USA.
Ann Hematol. 2017 Jan;96(1):51-55. doi: 10.1007/s00277-016-2842-4. Epub 2016 Oct 12.
The translocation t(14;18)(q32;q21) (BCL-2/J(H)) is present in over 80 % of all follicular lymphomas and is detectable in peripheral blood lymphocytes (PBL) of healthy individuals. The prevalence of this translocation has not been studied in African Americans (AAs). Given the higher incidence of follicular lymphomas in whites compared to AAs in the United States (USA), we hypothesized that the translocation prevalence in the blood of AAs would be lower. DNA was isolated from PBL from blood samples collected from participants from FL. Polymerase chain reaction was performed on the BCL-2/J(H) major (MBC) and minor breakpoint cluster (mBC) regions. Eight of the 77 (10.4 %) blood samples from AA participants were positive for MBC (95 % CI, 4.6-19.5 %), and three (3.9 %) were positive for mBC (95 % CI, 0.81-10.97 %) of BCL-2/J(H), with a total of 11 (14.3 %) participants with positive samples (95 % CI, 7.35-24.13 %). In 167 white patient samples, 22 (13.2 %; 95 % CI, 8.44-19.26 %) were positive for MBC, and five (3.0 %; 95 % CI, 0.98-6.85 %) were positive for mBC, with a total of 25 (15 %) participants with positive samples (CI, 9.93-21.30 %). The prevalence of t(14;18)(q32;q21) is not significantly different among AAs and whites from the USA. The lower prevalence of follicular lymphomas in AAs compared with whites is likely a result of differences in secondary molecular alterations involved in follicular lymphoma development. This study is the first report of prevalence of t(14;18) in an AA cohort.
超过80%的滤泡性淋巴瘤存在t(14;18)(q32;q21)（BCL-2/J(H)）易位，且在健康个体的外周血淋巴细胞（PBL）中可检测到。尚未对非裔美国人（AA）中这种易位的患病率进行研究。鉴于在美国白人中滤泡性淋巴瘤的发病率高于非裔美国人，我们推测非裔美国人血液中这种易位的患病率会更低。从佛罗里达州（FL）参与者采集的血液样本的PBL中分离出DNA。对BCL-2/J(H)主要（MBC）和次要断点簇（mBC）区域进行聚合酶链反应。77份非裔美国人参与者的血液样本中有8份（10.4%）MBC呈阳性（95%置信区间，4.6 - 19.5%），3份（3.9%）mBC呈阳性（95%置信区间，0.81 - 10.97%），共有11名（14.3%）参与者样本呈阳性（95%置信区间，7.35 - 24.13%）。在167份白人患者样本中，22份（13.2%；95%置信区间，8.44 - 19.26%）MBC呈阳性，5份（3.0%；95%置信区间，0.98 - 6.85%）mBC呈阳性，共有25名（15%）参与者样本呈阳性（置信区间，9.93 - 21.30%）。来自美国的非裔美国人和白人中t(14;18)(q32;q21)的患病率无显著差异。与白人相比，非裔美国人中滤泡性淋巴瘤患病率较低可能是由于滤泡性淋巴瘤发展过程中涉及的继发性分子改变存在差异。本研究是关于非裔美国人队列中t(14;18)患病率的首次报告。
