Cargando…

A Mosaic PIK3CA Mutation in a Moroccan Female: Exploring the Diagnostic Challenges of PIK3CA-Related Overgrowth Spectrum

The PIK3CA-related overgrowth spectrum (PROS) encompasses a group of rare disorders characterized by the overgrowth of various body parts, driven by mutations in the PIK3CA gene. This study presents a case of a Moroccan female patient with PROS, demonstrating a phenotype associated with genetic mosa...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ahakoud, Mohamed, Daha Belghiti, Hanae, Ihlal, Hajar, Bouguenouch, Laila
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10150574/ https://www.ncbi.nlm.nih.gov/pubmed/37139028 http://dx.doi.org/10.7759/cureus.36996

Ejemplares similares

The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study
por: Ahakoud, Mohamed, et al.
Publicado: (2023)

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**
por: Keppler-Noreuil, Kim M, et al.
Publicado: (2014)

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib
por: Morin, Gabriel, et al.
Publicado: (2022)

PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly
por: Krishnamurthy, Kritika, et al.
Publicado: (2023)

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders
por: Madsen, Ralitsa R., et al.
Publicado: (2018)

One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review
por: Alsaedi, Saleem A, et al.
Publicado: (2020)

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
por: Parker, Victoria E. R., et al.
Publicado: (2018)

PIK3CA-related overgrowth spectrum (PROS): a rare case report
por: Kalo, Cedra, et al.
Publicado: (2023)

PIK3CA-related overgrowth with an uncommon phenotype: case report
por: Rotunno, Roberta, et al.
Publicado: (2022)

Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences
por: Dexheimer, Joy, et al.
Publicado: (2022)

Successful Treatment of Hypoglycemia With Alpelisib in Pediatric Patients With PIK3CA-Related Overgrowth Spectrum
por: Nasomyont, Nat, et al.
Publicado: (2023)

Segmental epidermal nevus and mucosal neuromas associated with PIK3CA-related overgrowth spectrum disorder
por: Roth, Gretchen M., et al.
Publicado: (2018)

Carcinogenesis of PIK3CA
por: German, Sidra, et al.
Publicado: (2013)

PIK3CA-Related Overgrowth Syndrome (PROS) and Angiosarcoma: A Case Report
por: Weinstein, Brielle, et al.
Publicado: (2020)

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
por: Koutlas, Ioannis G., et al.
Publicado: (2021)

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
por: Koutlas, Ioannis G., et al.
Publicado: (2020)

Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report
por: Scharf, Jann Lennard, et al.
Publicado: (2021)

FLT3 Mutations in Acute Myeloid Leukemia: Unraveling the Molecular Mechanisms and Implications for Targeted Therapies
por: Jalte, Meryem, et al.
Publicado: (2023)

Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series
por: Mathew, Lydia, et al.
Publicado: (2020)

PIK3CA in Colorectal Cancer
por: Cathomas, Gieri
Publicado: (2014)

AKT1 and PIK3CA activating mutations in Moroccan bladder cancer patients´ biopsies and matched urine
por: El Ahanidi, Hajar, et al.
Publicado: (2022)

Letter to editor: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
por: Maldonado, Andrés A., et al.
Publicado: (2022)

Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy
por: Roy, Achira, et al.
Publicado: (2015)

Somatic non-cancerous PIK3CA-related overgrowth syndrome treated with alpelisib in North America
por: Garneau, Alexandre P., et al.
Publicado: (2021)

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib
por: Pagliazzi, Angelica, et al.
Publicado: (2021)

Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach
por: Rodríguez-Laguna, Lara, et al.
Publicado: (2022)

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms Tumor in PIK3CA-related overgrowth spectrum (PROS)
por: Waberski, Marta Biderman, et al.
Publicado: (2018)

Qualitative research with patients and caregivers of patients with PIK3CA related overgrowth spectrum: content validity of clinical outcome assessments
por: Raymond, Kimberly, et al.
Publicado: (2022)

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants
por: Tian, Wen, et al.
Publicado: (2020)

Frequency and spectrum of PIK3CA somatic mutations in breast cancer
por: Martínez-Sáez, Olga, et al.
Publicado: (2020)

Mutations of PIK3CA in gastric adenocarcinoma
por: Li, Vivian Sze Wing, et al.
Publicado: (2005)

Mutations in PIK3CA are infrequent in neuroblastoma
por: Dam, Vincent, et al.
Publicado: (2006)

PIK3CA-mutations in breast cancer
por: Reinhardt, Kristin, et al.
Publicado: (2022)

Clinical Response to PI3K-α Inhibition in a Cohort of Children and Adults With PIK3CA-Related Overgrowth Spectrum Disorders
por: Raghavendran, Prashant, et al.
Publicado: (2022)

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors
por: Serio, Viola Bianca, et al.
Publicado: (2023)

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
por: Frisk, Sofia, et al.
Publicado: (2019)

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome
por: Forde, Karina, et al.
Publicado: (2021)

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors
por: Loconte, Daria C., et al.
Publicado: (2015)

The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant
por: Berland, Siren, et al.
Publicado: (2021)

Mutation of the PIK3CA oncogene in human cancers
por: Karakas, B, et al.
Publicado: (2006)

Cannot write session to /tmp/vufind_sessions/sess_uecg6e3ge4q1cq0ejhtde0n4t2