Case Report
Copyright ©The Author(s) 2024.
World J Clin Cases. May 26, 2024; 12(15): 2627-2635
Published online May 26, 2024. doi: 10.12998/wjcc.v12.i15.2627
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
Ⅰa60 years oldYes10.104.5↑2.26↑972.2↑2.474.13Bilateral thyroid nodulesAdrenal CT: Right adrenal space-occupying massRight PHEO, bilateral MTC with lymph node metastasis
Ⅱa30 years oldYes10.124.1↑2.36↑29.49↑2.411.97Bilateral thyroid nodulesAdrenal CT: Bilateral adrenal space-occupying massBilateral PHEO, bilateral MTC
Ⅱc27 years oldNoNNNNNNNColor Doppler ultrasound: N-
Ⅱd24 years oldNoNNNNNNNColor Doppler ultrasound: N-
Ⅲa9 years oldYes1---18.931.967.22NColor Doppler ultrasound: NLeft MTC
Table 2 Genetic sequencing of RET (NM_020975)-exon11
Mutation position
Change in nucleic acids
Change in amino acids
RS-ID
Hom/Het
EI1/CDS11c.G1901Ap.Cys634TyrCM941237Het