Microsatellite instability is biased in Amsterdam II-defined Lynch-related cancer cases with family history but is rare in other cancers: a summary of 1000 analyses

Matsubayashi, Hiroyuki; Higashigawa, Satomi; Kiyozumi, Yoshimi; Oishi, Takuma; Sasaki, Keiko; Ishiwatari, Hirotoshi; Imai, Kenichiro; Hotta, Kinichi; Yabuuchi, Yohei; Ishikawa, Kazuma; Satoh, Tatsunori; Ono, Hiroyuki; Todaka, Akiko; Kawakami, Takeshi; Shirasu, Hiromichi; Yasui, Hirofumi; Sugiura, Teichi; Uesaka, Katsuhiko; Kagawa, Hiroyasu; Shiomi, Akio; Kado, Nobuhiro; Hirashima, Yasuyuki; Kiyohara, Yoshio; Bando, Etsuro; Niwakawa, Masashi; Nishimura, Seiichiro; Aramaki, Takeshi; Mamesaya, Nobuaki; Kenmotsu, Hirotsugu; Horiuchi, Yasue; Serizawa, Masakuni

doi:10.1186/s12885-022-09172-5

Table 2 Personal and family cancer history and microsatellite instability of the patients with LS-related and non-LS-related cancer

From: Microsatellite instability is biased in Amsterdam II-defined Lynch-related cancer cases with family history but is rare in other cancers: a summary of 1000 analyses

Cancer type	n	Meeting rB GLs		Meeting AII criteria	No. of any cancer			No. of LS (rB)-related cancer			Family history of the same cancer				MSI-H
Cancer type	total	patient	family	Meeting AII criteria	in patient past history	in FDR	in SDR and TDR	in patient past history	in FDR	in SDR and TDR	in FDR	%	in SDR and TDR	%	n	%	% in GC (n)	% in CD (n)	P value (GC vs.CD)
LS (AII)-related cancers
Colorectum	466	259	116	40	0.3 ± 0.8	1.1 ± 1.1	0.7 ± 1.2	0.2 ± 0.7	0.7 ± 0.9	0.4 ± 0.9	132	28.3%	50	10.7%	64	13.7%	41.7% (53/127)	3.2% (11/339)	< 0.0001
Endometrium	75	7	16	7	0.2 ± 0.6	1.2 ± 1.1	1.0 ± 1.6	0.1 ± 0.4	0.6 ± 0.8	0.6 ± 1.0	5	6.7%	4	0%	20	26.7%	45.2% (14/31)	13.6% (6/44)	0.003
Small intestine	15	2	1	0	0.6 ± 0.7	1.0 ± 0.9	0.5 ± 0.7	0.3 ± 0.6	0.3 ± 0.6	0.2 ± 0.4	0	0%	0	5.3%	3	20.0%	33.3% (2/6)	11.1% (1/9)	0.525
Renal pelvic/ureter	0	ー	ー	ー	ー	ー	ー	ー	ー	ー	ー	ー	ー	ー	ー	ー	ー	ー	ー
Subtotal	556	268	133	47	0.3 ± 0.8	1.1 ± 1.1^¶1	0.7 ± 1.2	0.2 ± 0.7	0.7 ± 0.9^§1	0.4 ± 0.9	137	24.6%	54	9.7%	87	15.6%^*1	42.1% (69/164)	4.6% (18/392)	< 0.0001
LS (rB-AII)-related cancers
Pancreas	162	9	22	0	0.3 ± 0.6	1.1 ± 1.1	0.8 ± 1.3	0.2 ± 0.5	0.7 ± 0.9	0.5 ± 1.1	25	15.4%	11	6.8%	1	0.6%	0% (0/29)	0.8% (1/133)	1.000
Biliary tract	64	2	11	0	0.2 ± 0.5	1.1 ± 1.2	0.4 ± 0.9	0.1 ± 0.3	0.5 ± 0.9	0.2 ± 0.5	2	3.1%	0	0%	1	1.6%	0% (0/1)	1.6% (1/63)	1.000
Stomach	36	4	11	2	0.5 ± 0.7	2.2 ± 1.6	0.8 ± 1.1	0.4 ± 0.7	1.7 ± 1.4	0.5 ± 0.9	16	44.4%	8	22.2%	1	2.8%	5.6% (1/18)	5.6% (1/18)	1.000
Ovary	24	1	3	0	0.4 ± 0.8	0.9 ± 1.4	0.9 ± 1.4	0.2 ± 0.6	0.7 ± 1.4	0.4 ± 0.9	0	0%	0	0.0%	2	8.3%	66.7% (2/3)	0% (0/21)	0.011
Brain	2	0	0	0	0.5 ± 0.7	0	0.5 ± 0.7	0	0	0.5 ± 0.7	0	0%	1	50.0%	0	0%	0% (0/2)	ー	ー
Subtotal	288	16	47	2	0.3 ± 0.6	1.2 ± 1.3^¶2	0.7 ± 1.2	0.2 ± 0.5	0.8 ± 1.1^§2	0.4 ± 0.9	43	14.9%	20	6.9%	5	1.7%^*2	5.7% (3/53)	1.3%(3/235)	0.078
Non-LS-related cancers
Uterine cervix	34	1	3	0	0.2 ± 0.5	0.6 ± 0.7	1.4 ± 1.4	0.1 ± 0.2	0.4 ± 0.6	0.8 ± 1.1	0	0%	0	0%	0	0%	ー	0% (0/34)	ー
Laryngopharyngus and esophagus	30	0	0	0	0.4 ± 1.0	0.9 ± 1.2	0.3 ± 0.7	0.1 ± 0.3	0.5 ± 0.7	0.1 ± 0.3	3	10.0%	1	3.3%	2	6.7%	ー	6.7% (2/30)	ー
Skin	27	1	1	0	0.6 ± 0.9	0.9 ± 0.8	0.7 ± 1.1	0.3 ± 0.5	0.6 ± 0.8	0.3 ± 0.7	1	3.7%	0	0%	0	0%	ー	0% (0/27)	ー
Neuroendocrine	22	1	0	0	0.1 ± 0.4	0.9 ± 1.1	0.3 ± 0.6	0.1 ± 0.3	0.3 ± 0.5	0.1 ± 0.4	0	0%	0	0%	0	0%	ー	0% (0/22)	ー
Thymomus	10	0	0	0	0.3 ± 0.5	1.2 ± 0.9	1.1 ± 1.3	0	0.9 ± 0.9	0.5 ± 0.7	0	0%	0	0%	1	10.0%	ー	10.0% (1/10)	ー
Breast	7	0	0	0	0	0.9 ± 0.9	1.3 ± 1.8	0	0.3 ± 0.5	1.0 ± 1.2	1	14.3%	0	0%	0	0%	ー	0% (0/7)	ー
Liver	6	0	0	0	0.5 ± 0.8	0.3 ± 0.5	0.2 ± 0.4	0.2 ± 0.4	0	0.2 ± 0.4	0	0%	0	0%	1	16.7%	ー	16.7% (1/6)	ー
Others	20	1	3	1	0.4 ± 0.7	1.1 ± 1.1	1.1 ± 1.4	0.3 ± 0.6	0.6 ± 0.8	0.7 ± 1.3	0	0%	1	5.0%	2	10.0%	40.0%(2/5)	0% (0/15)	0.053
Subtotal	156	4	7	1	0.3 ± 0.7	0.8 ± 1.0^¶3	0.8 ± 1.2	0.1 ± 0.4	0.5 ± 0.7^§3	0.4 ± 0.9	5	3.2%	2	1.3%	6	3.8%^*3	40.0% (2/5)	2.6% (4/151)	0.011
Total	1000	288	187	50	0.3 ± 0.7	1.1 ± 1.1	0.7 ± 1.2	0.2 ± 0.6	0.7 ± 0.9	0.4 ± 0.9	185	18.5%	76	7.6%	98	9.8%	33.3% (74/222)	3.1% (24/778)	< 0.0001

LS Lynch syndrome, SD standard deviation, rB GLs revised Bethesda guidelines, AII Amsterdam II, FDR first degree relative, SDR second degree relative, TDR third degree relative, MSI-H high frequency of microsatellite instability, GC genetic counseling, CD companion diagnostics
#1 + #2 vs. #3: not significant, #1 vs. #2: not significant, ¶1 + ¶2 vs. ¶3: P = 0.003, ¶1 vs. ¶2: not significant, §1 + §2 vs. §3: P = 0.004. §1 vs. §2: not significant, *1 vs. *2: P < 0.0001, *1 vs. *3: P < 0.0001

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