A case of familial isolated hyperparathyroidism with ectopic parathyroid cancer.
We report the kindred with familial isolated hyperparathyroidism with parathyroid cancer. The proband was diagnosed as having primary hyperparathyroidism at age 43. The same disorder was also found in his daughter who had low bone mass. His son was found to have primary hyperparathyroidism by family screening. The pathological diagnosis of the resected parathyroid in both father and daughter was parathyroid cancer, and that in son was parathyroid adenoma. The right lower gland of the proband and the left lower gland of the son were present in thymus. No mutations were found in the sequences of MEN1 gene, hence gene(s) other than MEN1 gene may have contributed to the malignant potency in our cases.
Yamashita
K
K
Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Suzuki
S
S
Yumita
W
W
Ikeo
Y
Y
Uehara
Y
Y
Minemura
K
K
Sakurai
A
A
Hashizume
K
K
D000236:Adenoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D000328:Adult; D002118:Calcium / Q000097:blood; D002277:Carcinoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000175:diagnosis / Q000235:genetics*; D019394:Ki-67 Antigen / Q000032:analysis; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D010281:Parathyroid Hormone / Q000097:blood; D010282:Parathyroid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017256:Technetium Tc 99m Sestamibi; D013950:Thymus Gland / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography
D019394:Ki-67 Antigen; D010281:Parathyroid Hormone; D017256:Technetium Tc 99m Sestamibi; D002118:Calcium