Research Article
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 | |
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ID 039: MEN1 syndrome case.
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