Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Department of Pathology, CHA Ilsan Women's and Children's General Hospital, CHA University, Goyang, Republic of Korea.
Cancer Genomics Proteomics. 2020 Sep-Oct;17(5):627-641. doi: 10.21873/cgp.20219.
BACKGROUND/AIM: We investigated differences in the clinicopathological and molecular characteristics between gastric-type mucinous carcinoma (GMC) and usual-type endocervical adenocarcinoma (UEA).
We collected the clinicopathological information and performed targeted genomic sequencing analysis.
GMCs exhibited significantly deeper invasion depth, larger horizontal spread, more advanced stage, more frequent distant metastasis, and more frequent parametrial and vaginal extension. Disease-free survival time of GMC patients was significantly shorter than that of UEA patients. GMCs displayed mutant p53 immunostaining pattern, whereas UEAs exhibited p16 block positivity. GMCs harbored mutations in KRAS, TP53, NF1, CDKN2A, STK11, and ARID1A. One GMC exhibited MDM2 amplification. In contrast, UEAs harbored mutations in HRAS, PIK3CA, and BRCA2. Two UEAs were found to have novel TP53 mutations.
GMC is associated with more aggressive behavior than UEA. Distinctive p53 and p16 immunostaining patterns enable differential diagnosis. GMC and UEA exhibit genetic heterogeneity with potentially actionable molecular alterations.
背景/目的：我们研究了胃型黏液性癌（GMC）和普通型宫颈内膜腺癌（UEA）在临床病理和分子特征方面的差异。
我们收集了临床病理信息，并进行了靶向基因组测序分析。
GMC 表现出明显更深的浸润深度、更大的水平扩散、更晚期的分期、更频繁的远处转移以及更频繁的宫旁和阴道延伸。GMC 患者的无病生存时间明显短于 UEA 患者。GMC 显示突变型 p53 免疫染色模式，而 UEA 显示 p16 阻断阳性。GMC 携带 KRAS、TP53、NF1、CDKN2A、STK11 和 ARID1A 的突变。一个 GMC 表现出 MDM2 扩增。相比之下，UEA 携带 HRAS、PIK3CA 和 BRCA2 的突变。两个 UEA 被发现存在新的 TP53 突变。
GMC 比 UEA 具有更具侵袭性的行为。独特的 p53 和 p16 免疫染色模式可进行鉴别诊断。GMC 和 UEA 表现出具有潜在可操作分子改变的遗传异质性。
