Neuroendocrine Tumors Are Enriched in Cowden Syndrome

Greidinger, Alison; Miller-Samuel, Susan; Giri, Veda N.; Woo, Michele S.; Akumalla, Saranya; Zeigler‐Johnson, Charnita; Keith, Scott W.; Silver, Daniel P.

doi:10.1200/po.19.00241

Cited by 2 publications

(1 citation statement)

References 24 publications

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“…These mutations are involved in both familial syndromes (TSC and Cowden's syndrome) and in somatic mutations and each typically regulates activation of mTOR pathways family member proteins. PTEN loss is found in 7% of all cases [16]. It prevents the activation of AKT by PI3K signaling, and loss of PTEN function increases oncogenic signaling through the PI3K-AKT-mTOR pathway.…”

Section: Introductionmentioning

confidence: 99%

Models in Pancreatic Neuroendocrine Neoplasms: Current Perspectives and Future Directions

Forsythe

Andrews

et al. 2023

Cancers

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Pancreatic neuroendocrine neoplasms (pNENs) are a heterogeneous group of tumors derived from multiple neuroendocrine origin cell subtypes. Incidence rates for pNENs have steadily risen over the last decade, and outcomes continue to vary widely due to inability to properly screen. These tumors encompass a wide range of functional and non-functional subtypes, with their rarity and slow growth making therapeutic development difficult as most clinically used therapeutics are derived from retrospective analyses. Improved molecular understanding of these cancers has increased our knowledge of the tumor biology for pNENs. Despite these advances in our understanding of pNENs, there remains a dearth of models for further investigation. In this review, we will cover the current field of pNEN models, which include established cell lines, animal models such as mice and zebrafish, and three-dimensional (3D) cell models, and compare their uses in modeling various disease aspects. While no study model is a complete representation of pNEN biology, each has advantages which allow for new scientific understanding of these rare tumors. Future efforts and advancements in technology will continue to create new options in modeling these cancers.

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Section: Introductionmentioning

confidence: 99%

Models in Pancreatic Neuroendocrine Neoplasms: Current Perspectives and Future Directions

Forsythe

Andrews

et al. 2023

Cancers

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Multiple bronchial carcinoids associated with Cowden syndrome

Tömböl,

Tőke,

Tóth

et al. 2024

Endocrine

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Cowden syndrome (CS) is a rare genetic condition due to the various germline mutations in the phosphatase and tensin homologue on chromosome ten (PTEN) tumour suppressor gene. As a result, CS is characterised by an increased risk of developing various benign and malignant tumours, such as thyroid, breast, endometrial and urogenital neoplasms, as well as gastrointestinal tract tumours. However, the neuroendocrine tumour association with CS is not elucidated yet. We present a case of a 46-year-old male patient diagnosed with testicular seminoma and follicular thyroid cancer in his medical history. Our patient met the clinical diagnostic criteria of Cowden syndrome. Genetic analysis established the clinical diagnosis; a known heterozygous PTEN mutation was detected [PTEN (LRG_311t1)c.388 C > T (p.Arg130Ter)]. Incidentally, he was also seen with multiple pulmonary lesions during his oncological follow-up. A video-assisted thoracoscopic left lingula wedge resection and later resections from the right lung were performed. Histological findings revealed typical pulmonary carcinoid tumours and smaller tumorlets. Somatostatin receptor SPECT-CT, 18F-FDG-PET-CT and 18F-FDOPA-PET-CT scans and endoscopy procedures could not identify any primary tumours in other locations. Our patient is the first published case of Cowden syndrome, associated with multifocal pulmonary carcinoids. Besides multiple endocrine neoplasia type 1, we propose Cowden syndrome as another hereditary condition predisposing to multiple pulmonary tumorlets and carcinoid tumours.

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Neuroendocrine Tumors Are Enriched in Cowden Syndrome

Cited by 2 publications

References 24 publications

Models in Pancreatic Neuroendocrine Neoplasms: Current Perspectives and Future Directions

Models in Pancreatic Neuroendocrine Neoplasms: Current Perspectives and Future Directions

Multiple bronchial carcinoids associated with Cowden syndrome

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