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Abstract：
MYC-rearranged B-cell lymphoma (BCL) in the pediatric/young adult (YA) age group differs substantially in disease composition from adult cohorts. However, data regarding the partner genes, concurrent rearrangements, and ultimate diagnoses in these patients is scarce compared to that in adult cohorts. We aimed to characterize the spectrum of MYC-rearranged (MYC-R) mature, aggressive BCL in the pediatric/YA population. A retrospective study of morphologic, immunophenotypic, and fluorescence in situ hybridization (FISH) results of patients age ≤ 30 years with suspected Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL) or high-grade B-cell lymphoma (HGBCL), and a MYC-R by FISH between 2013-2022 was performed. Two-hundred fifty-eight cases (129 (50%) pediatric (< 18 years) and 129 (50%) YA (18-30 years)) were included. Most MYC-R BCL in pediatric (89%) and YA (66%) cases were BL. While double-hit (DH) cytogenetics (MYC with BCL2 and/or BCL6-R, HGBCL-DH) was rare in the pediatric population (2/129, 2%), HGBCL-DH increased with age and was identified in 17/129 (13%) of YA cases. Most HGBCL-DH had MYC and BCL6-R, while BCL2-R were rare in both groups (3/258, 1%). MYC-R without an IG partner was more common in the YA group (14/116 (12%) vs 2/128 (2%), p = 0.001). The pediatric to YA transition is characterized by decreasing frequency in BL and increasing genetic heterogeneity of MYC-R BCL, with emergence of DH-BCL with MYC and BCL6-R. FISH to evaluate for BCL2 and BCL6 rearrangements is likely not warranted in the pediatric population but should continue to be applied in YA BCL.
摘要：
儿童/年轻成人（YA）年龄组的MYC重排B细胞淋巴瘤（BCL）在疾病组成上与成人队列有很大差异。然而,关于伴侣基因的数据，同时重新安排，与成人队列相比，这些患者的最终诊断很少。我们旨在表征MYC重排（MYC-R）成熟的光谱，儿科/YA人群中的侵袭性BCL。形态学的回顾性研究，免疫表型,和荧光原位杂交（FISH）结果的患者年龄≤30岁怀疑伯基特淋巴瘤（BL），弥漫性大B细胞淋巴瘤（DLBCL）或高级别B细胞淋巴瘤（HGBCL），并在2013-2022年期间通过FISH进行了MYC-R。包括2558例（129（50％）儿科（<18岁）和129（50％）YA（18-30岁））。小儿（89％）和YA（66％）病例中大多数MYC-RBCL为BL。而双重打击（DH）细胞遗传学（MYC与BCL2和/或BCL6-R，HGBCL-DH）在儿科人群中很少见（2/129，2%），HGBCL-DH随着年龄的增长而增加，在17/129（13％）的YA病例中发现。大多数HGBCL-DH有MYC和BCL6-R，而BCL2-R在两组中均罕见（3/258，1%）。没有IG伴侣的MYC-R在YA组中更为常见（14/116（12％）vs2/128（2％），p=0.001)。儿科到YA的转变的特征是BL的频率降低和MYC-RBCL的遗传异质性增加，伴随MYC和BCL6-R出现DH-BCLFISH评估BCL2和BCL6重排可能不适合儿科人群，但应继续应用于YABCL。
