C634Y mutation in RET-induced multiple endocrine neoplasia type 2A: A case report

Table 1 Clinical characteristics of the family members

Patient	Age at onset/follow-up	RET proto-oncogene mutation	3-MT	MN	NMN	Ct	Ca	PTH	Thyroid and parathyroid color Doppler ultrasound	Adrenal gland examination	Pathological diagnosis
Ⅰa	60 years old	Yes1	0.10	4.5↑	2.26↑	972.2↑	2.47	4.13	Bilateral thyroid nodules	Adrenal CT: Right adrenal space-occupying mass	Right PHEO, bilateral MTC with lymph node metastasis
Ⅱa	30 years old	Yes1	0.12	4.1↑	2.36↑	29.49↑	2.41	1.97	Bilateral thyroid nodules	Adrenal CT: Bilateral adrenal space-occupying mass	Bilateral PHEO, bilateral MTC
Ⅱc	27 years old	No	N	N	N	N	N	N	N	Color Doppler ultrasound: N	-
Ⅱd	24 years old	No	N	N	N	N	N	N	N	Color Doppler ultrasound: N	-
Ⅲa	9 years old	Yes1	-	-	-	18.93	1.96	7.22	N	Color Doppler ultrasound: N	Left MTC

¹Type of genetic mutation: p.Cys634Tyr.

3-MT: 3-methoxytyramine (nmol/L), reference value < 0.18 nmol/L; MN: Metanephrine (nmol/L), reference value ≤ 0.50 nmol/L; N: Normal; NMN: Normetanephrine (nmol/L), reference value ≤ 0.90 nmol/L; Ct: Calcitonin (pg/mL), reference value 0-9.52 pg/mL; Ca: blood calcium (mmol/L), reference value 2-2.5 mmol/L; PTH: Parathyroid hormone (pmol/L), reference value 1.6-6.9 pmol/L; CT: Computed tomography; PHEO: Pheochromocytoma; MTC: Medullary thyroid carcinoma.

Table 2 Genetic sequencing of RET (NM_020975)-exon11

Mutation position	Change in nucleic acids	Change in amino acids	RS-ID	Hom/Het
EI1/CDS11	c.G1901A	p.Cys634Tyr	CM941237	Het

Hom: Homozygous mutation; Het: Heterozygous mutation.