Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan

Hereditary Cancer in Clinical Practice

Research

Risa Kojima¹  Katsumasa Yamanaka²  Satoshi Baba²  Moriya Iwaizumi³  Kiyotaka Kurachi⁴  Kyota Tatsuta⁴  Yoshifumi Morita⁴  Mayu Sakata⁴  Katsunori Suzuki⁴  Hirotoshi Kikuchi⁴  Hiroya Takeuchi⁴  Yoshihiro Hiramatsu⁵ 

[1] Clinical & Molecular Genetics Center, Hamamatsu University School of Medicine, 1-20-1, Handayama, Higashi-ku, 431-3192, Hamamatsu, Shizuoka, Japan;Department of Diagnostic Pathology, Hamamatsu University School of Medicine, 1-20-1, Handayama, Higashi-ku, 431-3192, Hamamatsu, Shizuoka, Japan;Department of Laboratory Medicine, Hamamatsu University School of Medicine, 1-20-1, Handayama, Higashi-ku, 431-3192, Hamamatsu, Shizuoka, Japan;Department of Surgery, Hamamatsu University School of Medicine, 1-20-1, Handayama, Higashi-ku, 431-3192, Hamamatsu, Shizuoka, Japan;Department of Surgery, Hamamatsu University School of Medicine, 1-20-1, Handayama, Higashi-ku, 431-3192, Hamamatsu, Shizuoka, Japan;Department of Perioperative Functioning Care and Support, Hamamatsu University School of Medicine, 1-20-1, Handayama, Higashi-ku, 431-3192, Hamamatsu, Shizuoka, Japan;

关键词: Lynch syndrome;    Universal screening;    Genetic counseling;    Multidisciplinary team management;   

DOI  :  10.1186/s13053-023-00258-0

 received in 2022-09-29, accepted in 2023-07-11,  发布年份 2023

来源: Springer

【 摘 要 】

Backgrounds: This study aimed to evaluate the changes in the rates of genetic counseling and genetic testing as well as the diagnosis rate of Lynch syndrome (LS)-associated colorectal cancer before and after multistep approach with multidisciplinary team in Japanese.MethodsIn September 2016, we started universal screening for LS by mismatch repair protein immunohistochemistry and prospectively collected the records. Following patient interviews, we started multistep approach with multidisciplinary team (MA) in January 2020. MA consists of six surgeons, one genetic counselor, one medical geneticist, and six pathologists. MA is set up to compensate for patients’ lack of knowledge about genetic diseases and make case selection for elderly colorectal cancer patients with deficient mismatch repair (dMMR). MA is designed as a system that could be performed by a small number of medical genetic specialists. A total of 522 patients were included during the study duration, 323 and 199 patients in the pre-MA (P-MA) and MA groups, respectively.ResultsThe frequency of dMMR in all patients was 10.0%. The patient interview results indicated a significant lack of patient education regarding genetic diseases. The rates of genetic counseling and genetic testing was significantly higher in MA group than in P-MA group (genetic counseling: MA 34.6% vs. P-MA 7.7%, p = 0.04; genetic testing: MA 30.8% vs. P-MA 3.8%, p = 0.02). Moreover, the diagnosis rate of LS-associated colorectal cancer was significantly higher in MA group (2.5%) than in P-MA group (0.3%) (P = 0.03). In addition, MA could be performed without problems despite the small number of medical and human genetics specialists.ConclusionsMA has achieved appropriate pickup of suspected hereditary colorectal cancer patients and complemented the lack of knowledge about genetic diseases. The introduction of MA increased LS-associated colorectal cancer after universal screening. MA is an appropriate LS screening protocol for Japanese patients who lag behind in medical and human genetics education.

【 授权许可】

CC BY   
© The Author(s) 2023

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