Cargando…

A Novel, Likely Pathogenic MAX Germline Variant in a Patient With Unilateral Pheochromocytoma

CONTEXT: Inherited MYC-associated factor X (MAX) gene pathogenic variants (PVs) increase risk for pheochromocytomas (PCCs) and/or paragangliomas (PGLs) in adults and children. There is little clinical experience with such mutations. OBJECTIVE: This report highlights an important approach. METHODS: C...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lam-Chung, César Ernesto, Rodríguez, Larissa López, Vázquez, Jazmín Arteaga, Chávarri-Guerra, Yanin, Arízaga-Ramírez, Rebeca, Antonio, Orlando Falcon, De Anda González, Jazmín, López-Hernández, María Aurelia, Weitzel, Jeffrey N, Castillo, Danielle, Gómez-Pérez, Francisco Javier, Cuevas-Ramos, Daniel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Clinical Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8218934/ https://www.ncbi.nlm.nih.gov/pubmed/34169220 http://dx.doi.org/10.1210/jendso/bvab085

Ejemplares similares

Bilateral Pheochromocytoma with Germline MAX Variant without Family History
por: Hata, Shinnosuke, et al.
Publicado: (2022)

Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report
por: Shibata, Masahiro, et al.
Publicado: (2017)

Development and Pilot Implementation of the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) Intervention in Mexico
por: Blazer, Kathleen R., et al.
Publicado: (2021)

Max Schottelius: Pioneer in Pheochromocytoma
por: Bausch, Birke, et al.
Publicado: (2017)

A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review
por: Chang, Xiaoyan, et al.
Publicado: (2020)

Influence of Germline BRCA Genotype on the Survival of Patients with Triple-Negative Breast Cancer
por: Villarreal-Garza, Cynthia, et al.
Publicado: (2021)

Erythema at the bacillus Calmette-Guerin scar after influenza vaccination
por: Chavarri-Guerra, Yanin, et al.
Publicado: (2019)

Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes
por: Turin, Christie G, et al.
Publicado: (2022)

Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
por: Lam-Chung, César Ernesto, et al.
Publicado: (2021)

An Unusual Simultaneous Existence of Parathyroid Carcinoma and Papillary Thyroid Carcinoma: Case Report and Review of Literature
por: Lam-Chung, César Ernesto, et al.
Publicado: (2020)

Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant
por: Duarte, Diana Borges, et al.
Publicado: (2021)

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
por: Qin, Yuejuan, et al.
Publicado: (2010)

Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients
por: Huang, Yiqiang, et al.
Publicado: (2018)

Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL)
por: Maniam, Pavithran, et al.
Publicado: (2018)

Novel Germline SUCLG2 Mutations in Patients With Pheochromocytoma and Paraganglioma
por: Vanova, Katerina Hadrava, et al.
Publicado: (2021)

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience
por: Lima, José V, et al.
Publicado: (2023)

Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
por: Gómez, Ana Milena, et al.
Publicado: (2019)

Primary Hyperparathyroidism in a Patient With Bilateral Pheochromocytoma and a Mutation in the Tumor Suppressor MAX
por: Charoenngam, Nipith, et al.
Publicado: (2023)

Tumor-Associated Neutrophils in Breast Cancer Subtypes
por: Soto-Perez-de-Celis, Enrique, et al.
Publicado: (2017)

BE4max and AncBE4max Are Efficient in Germline Conversion of C:G to T:A Base Pairs in Zebrafish
por: Carrington, Blake, et al.
Publicado: (2020)

Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma
por: Saitoh, Kohei, et al.
Publicado: (2017)

Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma
por: Laitman, Yael, et al.
Publicado: (2020)

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
por: Yonamine, Masato, et al.
Publicado: (2021)

Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas
por: Roszko, Kelly Lauter, et al.
Publicado: (2017)

Análisis de concordancia de tres pruebas para el diagnóstico de malaria en la población sintomática de los municipios endémicos de Colombia
por: Cortés, Liliana Jazmín, et al.
Publicado: (2020)

Loss of MAX results in meiotic entry in mouse embryonic and germline stem cells
por: Suzuki, Ayumu, et al.
Publicado: (2016)

SAT-316 MAX-Related Bilateral Pheochromocytoma Associated with Subclinical Adrenal Insufficiency: A Case Report
por: Lundgrin, Erika, et al.
Publicado: (2019)

Bilateral adrenal pheochromocytoma with a germline L790F mutation in the RET oncogene
por: Min, Jun Won, et al.
Publicado: (2012)

Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma
por: Urbini, Milena, et al.
Publicado: (2018)

A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma
por: Yi, Jin Wook, et al.
Publicado: (2018)

Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield
por: Horton, Carolyn, et al.
Publicado: (2022)

End-of-Life Care and Advanced Directives in Hispanic/Latinx Patients: Challenges and Solutions for the Practicing Oncologist
por: Barragan-Carrillo, Regina, et al.
Publicado: (2022)

SAT-184 Silent Pheochromocytoma Complicated by Adrenal Insufficiency After Unilateral Adrenalectomy
por: Aftab, Hassaan B, et al.
Publicado: (2020)

Pheochromocytoma due to a novel SDHD variant presenting as unilateral visual loss
por: Miller, Clare, et al.
Publicado: (2021)

Cancer Care After the 2017 Central Mexico Earthquake
por: Alcalde-Castro, Jacqueline, et al.
Publicado: (2018)

Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report
por: Mamedova, Elizaveta, et al.
Publicado: (2021)

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients
por: Bennedbæk, Marc, et al.
Publicado: (2016)

Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma
por: Yalcintepe, Sinem, et al.
Publicado: (2021)

Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas
por: Gao, Yinjie, et al.
Publicado: (2021)

SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas
por: Manotas, María Carolina, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_mkqdhk4kqa0be6vd2s04l8f3of