Lee Ki Rim, Koh Jiwon, Jeon Yoon Kyung, Kwon Hyun Jung, Lee Jeong-Ok, Paik Jin Ho
Department of Pathology, Seoul National University Bundang Hospital, Seongnam, Korea.
Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.
J Pathol Transl Med. 2022 Jan;56(1):32-39. doi: 10.4132/jptm.2021.10.05. Epub 2021 Nov 16.
Primary adrenal (PA) diffuse large B cell lymphoma (DLBCL) was previously reported as an aggressive subset of DLBCL, but its genetic features were not sufficiently characterized. From our previous study of DLBCL with programmed death-ligand 1 (PD-L1) gene alterations, we focused on PD-L1 gene alterations in PA-DLBCL with clinicopathologic implications.
We performed fluorescence in situ hybridization for PD-L1 gene translocation and amplification in PA-DLBCL (n = 18) and comparatively analyzed clinicopathologic characteristics with systemic non-adrenal (NA)-DLBCL (n = 90).
PA-DLBCL harbored distinctive features (vs. NA-DLBCL), including high international prognostic index score (3-5) (72% [13/18] vs. 38% [34/90], p = .007), poor Eastern Cooperative Oncology Group performance score (≥ 2) (47% [7/15] vs. 11% [10/90], p = .003), elevated serum lactate dehydrogenase (LDH) (78% [14/18] vs. 51% [44/87], p = .035) and MUM1 expression (87% [13/15] vs. 60% [54/90], p = .047). Moreover, PA-DLBCL showed frequent PD-L1 gene alterations (vs. NA-DLBCL) (39% [7/18] vs. 6% [5/86], p = .001), including translocation (22% [4/18] vs. 3% [3/87], p = .016) and amplification (17% [3/18] vs. 2% [2/87], p = .034). Within the PA-DLBCL group, PD-L1 gene-altered cases (vs. non-altered cases) tended to have B symptoms (p = .145) and elevated LDH (p = .119) but less frequent bulky disease (≥ 10 cm) (p = .119). In the survival analysis, PA-DLBCL had a poor prognosis for overall survival (OS) and progression-free survival (PFS) (vs. NA-DLBCL; p = .014 and p = .004). Within the PA-DLBCL group, PD-L1 translocation was associated with shorter OS and PFS (p < .001 and p = .012).
PA-DLBCL is a clinically aggressive and distinct subset of DLBCL with frequent PD-L1 gene alterations. PD-L1 gene translocation was associated with poor prognosis in PA-DLBCL.
原发性肾上腺（PA）弥漫性大B细胞淋巴瘤（DLBCL）先前被报道为DLBCL的侵袭性亚型，但其基因特征尚未得到充分描述。基于我们先前对程序性死亡配体1（PD-L1）基因改变的DLBCL的研究，我们关注PA-DLBCL中具有临床病理意义的PD-L1基因改变。
我们对PA-DLBCL（n = 18）进行了PD-L1基因易位和扩增的荧光原位杂交，并与系统性非肾上腺（NA）-DLBCL（n = 90）的临床病理特征进行了比较分析。
PA-DLBCL具有独特特征（与NA-DLBCL相比），包括高国际预后指数评分（3-5）（72% [13/18] 对38% [34/90]，p = .007）、东部肿瘤协作组体能状态评分差（≥ 2）（47% [7/15] 对11% [10/90]，p = .003）、血清乳酸脱氢酶（LDH）升高（78% [14/18] 对51% [44/87]，p = .035）和MUM1表达（87% [13/15] 对60% [54/90]，p = .047）。此外，PA-DLBCL显示出频繁的PD-L1基因改变（与NA-DLBCL相比）（39% [7/18] 对6% [5/86]，p = .001），包括易位（22% [4/18] 对3% [3/87]，p = .016）和扩增（17% [3/18] 对2% [2/87]，p = .034）。在PA-DLBCL组中，PD-L1基因改变的病例（与未改变的病例相比）倾向于有B症状（p = .145）和LDH升高（p = .119），但大包块疾病（≥ 10 cm）的发生率较低（p = .119）。在生存分析中，PA-DLBCL的总生存期（OS）和无进展生存期（PFS）预后较差（与NA-DLBCL相比；p = .014和p = .004）。在PA-DLBCL组中，PD-L1易位与较短的OS和PFS相关（p < .001和p = .012）。
PA-DLBCL是DLBCL中具有临床侵袭性且独特的亚型，伴有频繁的PD-L1基因改变。PD-L1基因易位与PA-DLBCL的不良预后相关。
