Identification of a novel PRR15L-RSPO2 fusion transcript in a sigmoid colon cancer derived from superficially serrated adenoma
Identification of a novel PRR15L-RSPO2 fusion transcript in a sigmoid colon cancer derived from superficially serrated adenoma
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DOI：
10.1007/s00428-019-02604-x
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发表时间：
2019-11-01
期刊：
影响因子：
3.5
通讯作者：
Sekine, Shigeki
中科院分区：
文献类型：
--
作者：
Mizuguchi, Yasuhiko;Sakamoto, Taku;Sekine, Shigeki
浅表锯齿状腺瘤（SuSA）是最近提出的结直肠锯齿状病变的一种亚型。我们在这里报告了一种源自 SuSA 的乙状结肠癌，它表现出侵袭性的临床行为。内窥镜下，肿瘤表现为表面隆起的病变，有大结节。手术切除材料的组织学检查显示与 SuSA 相关的管状腺癌。尽管肿瘤侵犯仅限于粘膜下层，但仍检测到淋巴结和结外转移。患者随后出现腹膜转移，并于术后 15 个月死亡。分子分析在 SuSA 和腺癌成分中发现了 KRAS 突变和新型 PRR15L-RSPO2 融合体，该融合体保留了 RSPO2 的整个编码区。本研究证明了 SuSA 的恶性潜力，并扩大了 RSPO 融合在结直肠肿瘤中的应用范围。
Superficially serrated adenoma (SuSA) is a recently proposed subtype of colorectal serrated lesion. We here report a sigmoid colon cancer derived from SuSA, which exhibited aggressive clinical behavior. Endoscopically, the tumor appeared as a superficial elevated lesion with a large nodule. Histological examination of the surgically resected material showed tubular adenocarcinoma associated with SuSA. Although tumor invasion was limited to the submucosal layer, lymph node and extranodal metastases were detected. The patient subsequently developed peritoneal metastases and died 15 months after surgery. Molecular analyses identified a KRAS mutation and a novel PRR15L-RSPO2 fusion, which retains the entire coding region of RSPO2, in both SuSA and adenocarcinoma components. The present study demonstrates the malignant potential of SuSA and expands the spectrum of RSPO fusions in colorectal neoplasms.