Tuberous Sclerosis, Type II Diabetes Mellitus and the PI3K/AKT/mTOR Signaling Pathways—Case Report and Literature Review

Jurcă, Claudia; Kozma, Kinga; Petcheşi, Codruţa Diana; Zaha, Dana Carmen; Magyar, Ioan; Munteanu, Mihai; Faur, L; Jurca, Aurora; Bembea, Dan; Severin, Emilia; Jurcă, Alexandru Daniel

doi:10.3390/genes14020433

Cited by 8 publications

(2 citation statements)

References 78 publications

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“…Activated PI3K will downstream phosphorylate phosphatidylinositol 4,5-diphosphate (PIP2) to the second messenger phosphatidylinositol 3,4,5-trisphosphate (PiP3), which will activate serine/threonine protein kinase B (AKT) both directly and by recruiting lipoamide pyruvate dehydrogenase kinase isozyme 1 (PDK1). In turn, AKT will inhibit the tuberous sclerosis complex (TSC), inhibiting the mTOR (mechanistic target of rapamycin) complex [53][54][55][56]. Through its lipid phosphatase function, PTEN dephosphorylates the secondary messenger molecule PIP3 to PIP2 (basically causes PIP3 to convert back to PIP2), effectively inhibiting AKT activation; consequently, the mTOR complex will super-activate, causing cell proliferation, cell transformation, and tumorigenesis.…”

Section: Geneticsmentioning

confidence: 99%

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

Jurca,

Frățilă,

Iliaș

et al. 2023

Genes

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Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance and variable expressivity, making early diagnosis difficult. Mutations in the PTEN gene (phosphatase and TENsin homolog) are involved in its pathogenesis, involving many organs and systems originating in the three embryonic layers (ectodermum, endodermum, and mesodermum). The consequence is the development of hamartomatous lesions in various organs (brain, intestines, thyroid, oropharyngeal cavity, colon, rectum, etc.). Multiple intestinal polyps are common in patients with CS, being identified in over 95% of patients undergoing colonoscopy. The authors describe the case of a patient who presented the first signs of the disease at 3 ½ years (tonsil polyp) but was diagnosed only at the age of 20 following a colonoscopy that revealed hundreds of intestinal polyps, suggesting further molecular testing. A heterozygous frameshift mutation was identified in the PTEN gene, classified as a potentially pathogenic variant (c.762del.p(Val255*)). The authors present this case to highlight the path taken by the patient from the first symptoms to the diagnosis and to emphasize the clinical aspects of this mutational variant that have still not been identified in other patients with this syndrome.

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Section: Geneticsmentioning

confidence: 99%

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

Jurca,

Frățilă,

Iliaș

et al. 2023

Genes

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“…Neurofibromatosis Type I (NF1) is one of the neurocutaneous syndromes along with von Hippel-Lindau syndrome, Sturge-Weber syndrome, and the tuberous sclerosis complex [1,2]. It is caused by pathogenic variants in the NF1 gene located on chromosome 17q11.2.…”

Section: Introductionmentioning

confidence: 99%

The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review

Jurca,

Petchesi,

Jurca

et al. 2024

Preprint

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Background and Objectives Neurofibromatosis 1 (NF1 MIM # 162200), also known as von Recklinghausen disease, is among the most common autosomal dominantly transmitted disorders characterized mainly by neurocutaneous manifestations such as café au lait spots, intertriginous freckling, various types of neurofibromas (cutaneous neurofibromas or plexiform tumors), neurological manifestations, and bone abnormalities. It occurs with an incidence of 1:3000–1:4000 cases. Cone-rod dystrophies belong to the large group of retinal dystrophies, a highly heterogeneous group of disorders clinically manifested mainly by damage to cone and rod cells and have a broad spectrum of clinical manifestations. A large number of genes are involved in their etiology, with more than 100 currently identified, including the CRX gene responsible for the autosomal dominant form of cone-rod dystrophy (ad CORD). Materials and Methods: The authors present an intriguing case of a patient diagnosed with Neurofibromatosis type 1 (NF1) as an infant, along with ocular involvement (myopia and astigmatism onset at age 15), which yielded a surprising molecular testing result. Results: Molecular DNA analysis identified a rare occurrence of two mutational variants, including a pathogenic variant in the NF1 gene, c.3871-2A, and a likely pathogenic variant in the CRX gene c.119G>A. Conclusions: The authors present this case to highlight the surprises offered by molecular testing in a condition where the diagnosis is usually made based on clinical criteria, thus providing patients with competent genetic advice.

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Piperlongumine: the amazing amide alkaloid from Piper in the treatment of breast cancer

Mitra,

Biswas,

Bandyopadhyay

et al. 2023

Naunyn-Schmiedeberg's Arch Pharmacol

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Tuberous Sclerosis, Type II Diabetes Mellitus and the PI3K/AKT/mTOR Signaling Pathways—Case Report and Literature Review

Cited by 8 publications

References 78 publications

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review

Piperlongumine: the amazing amide alkaloid from Piper in the treatment of breast cancer

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