NDLI: Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome

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Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome

Content Provider	Springer Nature : BioMed Central
Author	Paparo, Lorella Rossi, Giovanni Battista Delrio, Paolo Rega, Daniela Duraturo, Francesca Liccardo, Raffaella Debellis, Mario Izzo, Paola De Rosa, Marina
Abstract	Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability.Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma.According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer.
Related Links	https://hccpjournal.biomedcentral.com/counter/pdf/10.1186/1897-4287-11-8.pdf
Ending Page	7
Page Count	7
Starting Page	1
File Format	HTM / HTML
ISSN	18974287
DOI	10.1186/1897-4287-11-8
Journal	Hereditary Cancer in Clinical Practice
Issue Number	1
Volume Number	11
Language	English
Publisher	BioMed Central
Publisher Date	2013-07-25
Access Restriction	Open
Subject Keyword	Cancer Research Oncology Human Genetics PTEN tumour suppressor gene PTEN hamartoma tumour syndrome (PHTS) Cowden syndrome (CS) Bannayan-riley-ruvalcaba syndrome (BRRS) Sporadic pheochromocytoma Macrocephaly Haploinsufficiency
Content Type	Text
Resource Type	Case study
Subject	Genetics (clinical) Oncology
Journal Impact Factor	2/2023
5-Year Journal Impact Factor	1.9/2023

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Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome

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Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome

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