Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma

Table 2

Clinical features of patients with AA from the study cohort with called genomic variants, reference sequences, and SNP-ID.

ID	Tumor size	Serum Ca (mmol/L) (2.13–2.70 mmol/L)	PTH (pg/mL) (12.0–65.0 pg/mL)	Gene	cDNA change	Protein change	Reference sequence	SNP-ID
037	2.2	3.29	828	CDC73	c.754delA	p.Ile252Phefs5	NM_024529
					c.85G>T	p.Glu29	NM_024529
039	2.4	3.83	425	CDC73	c.571delG	p.Ala191Leufs11	NM_024529
					c.9_18delCGTGCTTAGC	p.Asp3Glufs15	NM_024529
043	3	3.18	226	CDC73	c.362C>T	p.Ser121Phe	NM_024529	rs121434263
				CDC73	c.128G>A	p.Trp43	NM_024529
048	3.5	2.85	2500	CDC73	c.85delG	p.Glu29Serfs8	NM_024529	rs587776560
				CDC73	c.175dupT	p.Ser59Phefs7	NM_024529
051	4	3.44	1769	CDC73	c.232G>A	p.Ala78Thr	NM_024529
052	5	1.06	186	CDC73	c.10delG	p.Val4Cysfs17	NM_024529
					c.664C>T	p.Arg222	NM_024529
053	1.2	1.36	444	CDC73	c.84_90delGGAGTTC	p.Glu29Profs6	NM_024529
056	2	2.75	219	EZH2	c.647G>A	p.Arg216Gln	NM_004456	rs747028969
057	1.5	3.1	318	EZH2	c.1936T>A	p.Tyr646Asn	NM_004456	rs267601395
062	1	1.37	81.2	EZH2	c.1936T>A	p.Tyr646Asn	NM_004456	rs267601395
				HIC1	c.1571A>G	p.Lys524Arg	NM_006497
063	2	2.98	192	CDC73	c.191T>C	p.Leu64Pro	NM_024529	rs121434264
				EZH2	c.1451C>A	p.Pro484Gln	NM_004456
068	2	2.98	612	CDC73	c.549delT	p.Ala184Glnfs18	NM_024529
				CDC73	c.25C>T	p.Arg9	NM_024529	rs121434262
071	2.4	3.29	162	CDC73	c.128G>A	p.Trp43	NM_024529	rs121434263
072	1.5	1.55	167	CDKN2A	c.343G>T	p.Val115Leu	NM_000077	rs779913365
074	6	4.46	1231	CDC73	c.195_203delATAACGTGC	p.Asn65_His68delinsAsn	NM_024529
082	3.5	3.29	1224	CDC73	c.1394C>A	p.Ser465	NM_024529

ID 039: MEN1 syndrome case.