Medullary thyroid cancer and pheochromocytoma in MEN2A: are there parent of origin effects on disease expression?
Lymph node metastasis
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Offspring gender
Parent of origin effect
Pheochromocytoma
Primary hyperparathyroidism
Journal
Familial cancer
ISSN: 1573-7292
Titre abrégé: Fam Cancer
Pays: Netherlands
ID NLM: 100898211
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
received:
10
02
2021
accepted:
15
10
2021
pubmed:
23
10
2021
medline:
9
11
2022
entrez:
22
10
2021
Statut:
ppublish
Résumé
There are no data on the impact of parent-of-origin effects on the expression of multiple endocrine neoplasia type 2A (MEN2A). The present study aimed to explore effects of parent-of-origin and offspring gender in MEN2A. In total, 224 carriers harbored heterozygous RET (REarranged during Transfection) p.Cys634 missense variants, for 169 of whom information on parent-of-origin gender was available. Altogether, offspring from affected fathers harbored more often node metastases from medullary thyroid cancer (45 vs. 19%; P = 0.006) and bilateral pheochromocytoma (24 vs. 10%; P = 0.021) than offspring from affected mothers. The former also also tended to be older at most recent follow-up (medians of 21 vs. 14 years; P = 0.056) and tended to have more often pheochromocytoma (33 vs. 19 yrs.; P = 0.051) and primary hyperparathyroidism (13 vs. 4%; P = 0.090) than the latter. Daughters from affected fathers harbored more often node metastases (39 vs. 15%; P = 0.043) than daughters from affected mothers. This difference decreased in male offspring when sons from affected fathers were compared with sons from affected mothers (52 vs. 40%; P = 0.111). There was also a slight deficit of male offspring: 1.1 sons each per affected mother and father vs. 1.2 daughters per affected mother and 1.4 daughters per affected father. These data suggest a parent-of-origin effect in MEN2A, warranting international collaborative research.
Identifiants
pubmed: 34677728
doi: 10.1007/s10689-021-00282-w
pii: 10.1007/s10689-021-00282-w
doi:
Substances chimiques
Proto-Oncogene Proteins c-ret
EC 2.7.10.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
473-478Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Nature B.V.
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