Subbiah Vivek, Bupathi Manojkumar, Kato Shumei, Livingston Andrew, Slopis John, Anderson Pete M, Hong David S
Department of Phase I Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Oncoscience. 2015 Jul 8;2(7):646-58. doi: 10.18632/oncoscience.176. eCollection 2015.
The aggressive biology of cancers arising in adolescent and young adult (AYA; ages 15-39 years) patients is thought to contribute to poor survival outcomes.
We used clinical next-generation sequencing (NGS) results to examine the molecular alterations and diverse biology of cancer in AYA patients referred to the Phase 1 program at UT MD Anderson Cancer Center.
Among the 28 patients analyzed (14 female and 14 male), 12 had pediatric-type cancers, six had adult-type cancers, and ten had orphan cancers. Unique, hitherto unreported aberrations were identified in all types of cancers. Aberrations in TP53, NKX2-1, KRAS, CDKN2A, MDM4, MCL1, MYC, BCL2L2, and RB1 were demonstrated across all tumor types. Five patients harbored TP53 aberrations; three patients harbored MYC, MCL1, and CDKN2A aberrations; and two patients harbored NKX2-1, KRAS, MDM4, BCL2L2, and RB1 alterations. Several patients had multiple aberrations; a patient with wild-type gastrointestinal stromal tumor harbored five alterations (MDM4, MCL1, KIT, AKT3, and PDGRFA).
This preliminary report of NGS of cancer in AYA patients reveals diverse and unique aberrations. Further molecular profiling and a deeper understanding of the biology of these unique aberrations are warranted and may lead to targeted therapeutic interventions.
青少年和青年（AYA；15 - 39岁）患者所患癌症具有侵袭性生物学行为，这被认为是导致生存结果不佳的原因。
我们利用临床二代测序（NGS）结果，研究转诊至德克萨斯大学MD安德森癌症中心1期项目的AYA患者癌症的分子改变和多样生物学行为。
在分析的28例患者（14例女性和14例男性）中，12例患有儿童型癌症，6例患有成人型癌症，10例患有罕见癌症。在所有类型癌症中均发现了独特的、迄今未报告的畸变。在所有肿瘤类型中均证实了TP53、NKX2 - 1、KRAS、CDKN2A、MDM4、MCL1、MYC、BCL2L2和RB1的畸变。5例患者存在TP53畸变；3例患者存在MYC、MCL1和CDKN2A畸变；2例患者存在NKX2 - 1、KRAS、MDM4、BCL2L2和RB1改变。几名患者有多种畸变；一名野生型胃肠道间质瘤患者存在5种改变（MDM4、MCL1、KIT、AKT3和PDGRFA）。
这份关于AYA患者癌症NGS的初步报告揭示了多样且独特的畸变。有必要进一步进行分子谱分析并更深入了解这些独特畸变的生物学行为，这可能会带来靶向治疗干预。
