Quadruple gastrointestinal cancer with discordance of mismatch repair protein deficiency and microsatellite instability
- PDF / 1,445,276 Bytes
- 4 Pages / 595.276 x 790.866 pts Page_size
- 80 Downloads / 182 Views
CASE REPORT
Quadruple gastrointestinal cancer with discordance of mismatch repair protein deficiency and microsatellite instability suggesting Lynch syndrome Satoshi Toyota1 · Ryota Nakanishi1 · Yu Miyashita1,2 · Shinichiro Yoshino1 · Yoshiaki Fujimoto1 · Tomoko Jogo1 · Qingjiang Hu1 · Kentaro Hokonohara1 · Yuichi Hisamatsu1 · Koji Ando1 · Yasue Kimura1 · Eiji Oki1 · Yoshinao Oda2 · Masaki Mori1 Received: 6 October 2020 / Accepted: 29 October 2020 © The Japan Society of Clinical Oncology 2020
Abstract A 65-year-old woman with prior personal and family histories of cancer was admitted to our hospital for quadruple cancer. Preoperative endoscopy revealed a type 0–II gastric cancer (GC; gastric body), advanced type-II colon cancer (ascending colon), and early-stage recto-sigmoid colon cancers. We diagnosed her with Lynch syndrome (LS) per Amsterdam criteria, and performed distal gastrectomy, ileocecal resection and high anterior resection. Her pathological diagnoses were GC: wellto-poorly differentiated adenocarcinoma (AD, por2 > tub2) with signet-ring cells, ypT1b SM2; ascending colon cancer: AD with focal mucin products (tub2 > muc), SS; sigmoid colon cancer: AD (tub1), M; recto-sigmoid cancer: AD (tub1 > tub2), SM. Immunohistochemical tests revealed that all cancers lacked the MLH1/PMS2 protein. However, the three colon cancers were found to have high microsatellite instability (MSI); the GC was microsatellite stable (MSS). No recurrence or other cancers were observed for 30 months after surgery without adjuvant chemotherapy. As patients with LS may also develop MSS cancers, we should check for MSI in all LS cancers for proper treatment. Keywords Lynch syndrome · Microsatellite instability · Quadruple cancer
Introduction Lynch syndrome (LS) is autosomal recessive inheritance caused by DNA mutation, and first reported by Warthin in 1913 [1]. The lack of mismatch-repair (MMR) genes MLH1, MHS2, MSH6 or PMS2 can change the length of nucleotide repeat sequences within tumor DNA. Thus, LS induces cancer in various regions, including the gastrointestinal tract, endometrium and urinary organs, and they often overlap. Although the prevalence of LS is reportedly 0.9–2.7% [2, 3], the true number is unknown due to the difficulty of screening
* Satoshi Toyota [email protected] 1
Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, 3‑1‑1, Maidashi, Higashi‑ku, Fukuoka 812‑8582, Japan
Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
2
and diagnosis. Usually, MMR deficiency or microsatellite instability (MSI) must be confirmed for screening. We believe this to be the first report of quadruple gastrointestinal cancers with discordant mismatch repair protein deficiency and microsatellite instability, indicating LS.
Case report A 65-year-old woman with histories of transverse colon cancer (CC) and endometrial cancer was admitted to our hospital for the treatment of gastric cancer (GC) and CC in May 2017. Her mother was d
Data Loading...
