Identification of mutant K-RAS in pituitary macroadenoma.
Digital PCR
K-RAS
Liquid biopsy
Macroadenoma
Pituitary adenoma
Journal
Pituitary
ISSN: 1573-7403
Titre abrégé: Pituitary
Pays: United States
ID NLM: 9814578
Informations de publication
Date de publication:
Oct 2021
Oct 2021
Historique:
accepted:
28
04
2021
pubmed:
7
5
2021
medline:
18
1
2022
entrez:
6
5
2021
Statut:
ppublish
Résumé
RAS genes are among the most frequently mutated genes in cancer, where their mutation frequency varies according to the distinct RAS isoforms and tumour types. Despite occurring more prevalent in malignant tumours, RAS mutations were also observed in few benign tumours. Pituitary adenomas are examples of benign tumours which vary in size and aggressiveness. The present study was performed to investigate, via liquid biopsy and tissue analysis, the presence of K-RAS mutations in a pituitary macroadenoma. Molecular analysis was performed to investigate K-RAS mutations using the droplet digital PCR (ddPCR) method by evaluating both plasma (liquid biopsy) and the solid tumour of a patient diagnosed with a giant clinically non-functioning pituitary tumour. The patient underwent surgical resection due to visual loss, and the histopathological analysis showed a gonadotrophic pituitary macroadenoma. The molecular analysis revealed the presence of mutant K-RAS both in the plasma and in the tumour tissue which, to our knowledge, has not been previously reported in the literature. Our findings highlight the exceptional capacity of the digital PCR in detecting low frequency mutations (below 1%), since we detected, for the first time, K-RAS mutations in pituitary macroadenoma. The potential impact of K-RAS mutations in these tumours should be further investigated.
Identifiants
pubmed: 33954928
doi: 10.1007/s11102-021-01151-6
pii: 10.1007/s11102-021-01151-6
doi:
Substances chimiques
KRAS protein, human
0
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
746-753Subventions
Organisme : Conselho Nacional de Desenvolvimento Científico e Tecnológico
ID : 427912/2018-0
Organisme : Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro
ID : 25191
Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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