Article
Biochemistry & Molecular Biology
Samuele Sutera, Daniela Francesca Giachino, Alessandra Pelle, Roberta Zuntini, Monica Pentenero
Summary: PTEN hamartoma tumor syndrome (PHTS) is a group of disorders caused by mutations of the PTEN gene, resulting in the development of non-cancerous growths called hamartomas in various parts of the body, including the oral mucosa. PHTS is also associated with an increased risk of malignancies, as PTEN is a tumor suppressor gene that inhibits the progression of several cancers. This study identifies patients with gingival or mucosal enlargements, which led to the diagnosis of PHTS associated with novel PTEN pathogenic variants.
Article
Biochemistry & Molecular Biology
Michele Nebe, Stephanie Kehr, Samuel Schmitz, Jana Breitfeld, Judith Lorenz, Diana Le Duc, Peter F. Stadler, Jens Meiler, Wieland Kiess, Antje Garten, Anna S. Kirstein
Summary: SMIM10L1 plays a significant role in adipogenesis and may contribute to lipoma formation through increased PI3K/AKT/mTOR signaling.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Genetics & Heredity
Laura Pena-Couso, Maria Ercibengoa, Fatima Mercadillo, David Gomez-Sanchez, Lucia Inglada-Perez, Maria Santos, Javier Lanillos, David Gutierrez-Abad, Almudena Hernandez, Pablo Carbonell, Rocio Leton, Mercedes Robledo, Cristina Rodriguez-Antona, Jose Perea, Miguel Urioste
Summary: This study reviewed the clinical data of 145 Spanish patients with PTEN hamartoma tumor syndrome (PHTS) and identified new genes potentially associated with the disease through molecular characterization. The findings of this study have important implications for translation to the clinic and for new research lines.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Endocrinology & Metabolism
Gaia Vincenzi, Ilenia Teresa Petralia, Marco Abbate, Giulia Tarantola, Silvia Laura Carla Meroni, Riccardo Maggiore, Gilberto Mari, Maria Grazia Patricelli, Marco Schiavo Lena, Graziano Barera, Maria Cristina Vigone
Summary: We describe a case of a pediatric female patient with Bannayan-Riley-Ruvalcaba syndrome (BRRS) and congenital hypothyroidism (CH) carrying homozygous mutation of the TPO gene. The patient underwent total thyroidectomy at the age of seven years due to the development of multinodular goiter. This case highlights the possible synergic role of coexisting mutation of both TPO and PTEN in the development of multinodular goiter, emphasizing the importance of tailored surveillance program in these patients, especially during childhood.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Vittoria Disciglio, Paola Sanese, Candida Fasano, Claudio Lotesoriere, Anna Maria Valentini, Giovanna Forte, Martina Lepore Signorile, Katia De Marco, Valentina Grossi, Ivan Lolli, Filomena Cariola, Cristiano Simone
Summary: This study reports a variant in the promoter of the PTEN gene that may affect the expression of PTEN protein. The variant was found to be associated with cancer risk in patients based on analysis of tissue samples.
Article
Oncology
Jacob A. Quaytman, Yuri E. Nikiforov, Marina N. Nikiforova, Elena Morariu
Summary: This study characterizes the clinical and histopathologic features of thyroid nodules with PTEN mutations and their impact on management. The results show that thyroid nodules with isolated somatic PTEN mutations are primarily benign and unlikely to grow at a high rate, at least on short-term follow-up. Approximately 8% of patients with PTEN mutations may have PHTS or CS, especially in younger patients with multiple thyroid nodules.
ENDOCRINE-RELATED CANCER
(2022)
Article
Endocrinology & Metabolism
Jessica R. Smith, Enju Liu, Alanna J. Church, Elizabeth Asch, Christine E. Cherella, Siddharth Srivastava, Junne Kamihara, Ari J. Wassner
Summary: Thyroid disease is common in children with PHTS, with females being diagnosed with nodules earlier than males. Female sex and the absence of neurological findings of PHTS are significantly associated with the risk of thyroid nodules. Abnormal lymph nodes with echogenic foci were observed by ultrasound in 20% of patients, but were not linked to malignancy. Autoimmune thyroid disease was present in 30.3% of assessed subjects.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Gilman Plitt, Takae Brewer, Lamis Yehia, Judy Jin, Joyce Shin, Charis Eng
Summary: This study investigated the time to develop thyroid nodules and thyroid cancer in PHTS patients. The findings suggest that PHTS patients without nodules on ultrasound can extend surveillance intervals to 3-5 years, while patients with clinically nonactionable nodules can extend surveillance intervals to 2-3 years, instead of the current recommendation of annual ultrasounds.
Article
Oncology
Jordi Rodon, Pauline Funchain, Theodore W. Laetsch, Hendrik-Tobias Arkenau, Alice Hervieu, Christian F. Singer, Yonina R. Murciano-Goroff, Sant P. Chawla, Kristin Anthony, Ikuo Yamamiya, Mei Liu, Abdel-Baset Halim, Karim A. Benhadji, Osamu Takahashi, Suzette Delaloge
Summary: The study aims to test a new oral medication TAS-117 for patients with solid tumors harboring germline PTEN mutations, exploring its potential treatment for rare forms of cancer.
Article
Gastroenterology & Hepatology
Lamis Yehia, Brandie Heald, Charis Eng
Summary: Hamartomatous polyposis syndromes are a group of clinically distinct disorders characterized by hamartomatous polyps in the gastrointestinal tract. These syndromes include juvenile polyposis syndrome, Peutz-Jeghers syndrome, and PTEN hamartoma tumor syndrome. Differentiating histologically between the polyps in each syndrome is challenging. Additionally, these syndromes are associated with increased risks of gene-specific and organ-specific cancers. Germline pathogenic variants can be identified and facilitate molecular diagnosis and gene-enabled management. Timely recognition enables presymptomatic cancer surveillance and management, although there are currently no standard agents for prevention.
Review
Biochemistry & Molecular Biology
Casey G. Langdon
Summary: Phosphatase and tensin homolog (PTEN) is a tumor-suppressive protein with phosphatase activity in both lipids and proteins. Its tumor-suppressive functions are lost through various mechanisms in different human malignancies. This review focuses on the changes in PTEN subcellular localization, its entry into the nucleus, and the impacts of disrupted PTEN nuclear localization on tumor promotion. Understanding the cytoplasmic and nuclear functions of PTEN is crucial in preventing human cancers.
Article
Oncology
Alma Hoxhaj, Meggie M. C. M. Drissen, Janet R. Vos, Peter Bult, Ritse M. Mann, Nicoline Hoogerbrugge
Summary: This study evaluated the effectiveness and yield of breast cancer (BC) surveillance in women with PTEN Hamartoma Tumor Syndrome (PHTS), as well as the prevalence and type of breast disease in this population. The results showed that annual MRI surveillance starting at age 25 enables the detection of early-stage BCs, with high performance measures and cancer detection rate.
Article
Radiology, Nuclear Medicine & Medical Imaging
C. Han, Y. Zhang, C. Ran, Y. Luo, W. Li
Summary: This study evaluated the clinical and imaging features of Lhermitte-Duclos disease (LDD) and its subgroup comparison. The typical tiger stripe sign was commonly observed in LDD lesions, and it had lower density and higher apparent diffusion coefficient values compared to the normal cerebellum. Atypical features such as abnormal vessels, intratumoural calcification, intratumoural haemorrhage, peritumoural oedema, and heterogeneous enhancement were also found in some lesions. The presence of other tumours was associated with a higher prevalence of the tiger stripe sign and a higher preoperative diagnostic accuracy.
CLINICAL RADIOLOGY
(2023)
Review
Oncology
David D. Dragoo, Ahmed Taher, Vincenzo K. Wong, Ahmed Elsaiey, Nikita Consul, Hagar S. Mahmoud, Bilal Mujtaba, Nir Stanietzky, Khaled M. Elsayes
Summary: Cancer types commonly seen in Cowden syndrome patients include benign tumors like Lhermitte-Duclos disease and malignant tumors involving the breast, thyroid, kidneys, and uterus. Understanding the imaging findings of these tumors can help in early tumor recognition and improve patient survival rates.
Article
Dentistry, Oral Surgery & Medicine
Nunthawan Nowwarote, Thanaphum Osathanon, Benjamin P. J. Fournier, Thanakorn Theerapanon, Somchai Yodsanga, Paksinee Kamolratanakul, Thantrira Porntaveetus, Vorasuk Shotelersuk
Summary: PTEN plays an important role in regulating proliferation and osteogenic ability of dental pulp cells (hDPs), as well as inducing adipogenesis of adipose-derived mesenchymal stem cells (hADSCs). Inhibition of PTEN diminishes the proliferation and osteogenic potential of hDPs, and may compromise the adipogenic ability of hADSCs.
Editorial Material
Oncology
Gideon M. Blumenthal, Richard Pazdur
Article
Oncology
Sean Khozin, Gideon M. Blumenthal, Richard Pazdur
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2017)
Letter
Medicine, General & Internal
Gideon Blumenthal, Geoffrey Kim, Richard Pazdur
JAMA INTERNAL MEDICINE
(2017)
Article
Oncology
Sean Khozin, Gideon M. Blumenthal, Richard Pazdur
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2017)
Editorial Material
Oncology
Gideon M. Blumenthal, Marc R. Theoret, Richard Pazdur
Editorial Material
Oncology
Gideon M. Blumenthal, Richard Pazdur
NATURE REVIEWS CLINICAL ONCOLOGY
(2018)
Article
Oncology
B. Douglas Smith, Richard J. Jones, Eunpi Cho, Jeanne Kowalski, Judith E. Karp, Steven D. Gore, Milada Vala, Brooke Meade, Sharyn D. Baker, Ming Zhao, Steven Piantadosi, Zhe Zhang, Gideon Blumenthal, Erica D. Warlick, Robert A. Brodsky, Anthony Murgo, Michelle A. Rudek, William H. Matsui
Correction
Oncology
M. Christine Hollander, Gideon M. Blumenthal, Phillip A. Dennis
NATURE REVIEWS CANCER
(2011)
Review
Oncology
M. Christine Hollander, Gideon M. Blumenthal, Phillip A. Dennis
NATURE REVIEWS CANCER
(2011)