The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report.

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Tytuł:: The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report.
Autorzy:: Villabona C; Department of Endocrinology, Hospital Universitari de Bellvitge, Barcelona, Spain.
Oriola J; Department of Biochemistry and Molecular Genetics, CDB, Hospital Clinic, Barcelona, Spain.
Serrano T; Department of Pathology, Hospital Universitari de Bellvitge, Barcelona, Spain.
Guerrero-Pérez F; Department of Endocrinology, Hospital Universitari de Bellvitge, Barcelona, Spain.
Valdés N; Institute of Sanitary Research of Asturias, Institute of Oncology of Asturias (IUOPA), CIBERONC, Hospital Central de Asturias, Universidad de Oviedo, Oviedo, Spain.
Chiara M; Institute of Sanitary Research of Asturias, Institute of Oncology of Asturias (IUOPA), CIBERONC, Hospital Central de Asturias, Universidad de Oviedo, Oviedo, Spain.
Robledo M; Hereditary Endocrine Cancer Group, Spanish National Cancer Centre, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Źródło:: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3872-3876. Date of Electronic Publication: 2021 Jul 27.
Typ publikacji:: Case Reports
Język:: English
Imprint Name(s):: Publication: Hoboken, N.J. : Wiley-Blackwell
Original Publication: Hoboken, N.J. : Wiley-Liss, c2003-
MeSH Terms:: Paraganglioma/*genetics
Pheochromocytoma/*genetics
Pituitary Neoplasms/*genetics
Proto-Oncogene Proteins/*genetics
Adult ; Germ-Line Mutation ; Heterozygote ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local/genetics ; Neoplasm Recurrence, Local/pathology ; Paraganglioma/complications ; Paraganglioma/pathology ; Pheochromocytoma/complications ; Pheochromocytoma/pathology ; Pituitary Neoplasms/complications ; Pituitary Neoplasms/pathology
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Contributed Indexing:: Keywords: acromegaly; multiple endocrine neoplasia type 1; p.(Pro540Ser) MEN1 genetic variant; pheochromocytoma
Substance Nomenclature:: 0 (MEN1 protein, human)
0 (Proto-Oncogene Proteins)
Entry Date(s):: Date Created: 20210727 Date Completed: 20220301 Latest Revision: 20220301
Update Code:: 20240105
DOI:: 10.1002/ajmg.a.62444
PMID:: 34313384
: Raport

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Pheochromocytoma/paraganglioma (Pheo/PGL) associated with pituitary adenoma (PA) is rare in clinical practice, and a common pathogenic mechanism has been suggested owing to the germline pathogenic variants found in some cases. Our aim is to propose a reassignment for a recurrent MEN1 genetic variant found in a 54-year-old male patient with bilateral pheochromocytoma and GH-secreting PA. Pheo/PGL genes study was carried out in DNA samples from Pheo as well as PA and no pathological variants or large deletions were detected. Additionally, a MEN1 gene analysis was performed, and a heterozygous germline variant in exon 10: c.1618C>T; p.(Pro540Ser) was found. No MEN1 gene deletions/duplications were detected. In evaluating a causal relationship between the c.1618C>T MEN1 variant and both tumors, we took into account that missense variants are common pathogenic variants in MEN1, and the population frequency of this variant is too high to be considered pathogenic. His son (aged 38 and carrier) is asymptomatic, and computational analysis showed discrepancies. We propose that this recurrent variant, previously considered as likely pathogenic, subsequently as variant of uncertain significance, and likely benign should now be reclassified as benign.
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