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Elsevier

Hereditary Syndromes Associated with Endocrine Tumors

  • 1st Edition, Volume 134 - April 1, 2027
  • Latest edition
  • Editor: Marta Araujo Castro
  • Language: English

Volume 134, Hereditary Syndromes Associated with Endocrine Tumors, provides a comprehensive and up-to-date overview of the genetic, molecular, clinical, diagnostic, and therap… Read more

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Description

Volume 134, Hereditary Syndromes Associated with Endocrine Tumors, provides a comprehensive and up-to-date overview of the genetic, molecular, clinical, diagnostic, and therapeutic aspects of inherited endocrine neoplasia syndromes. Over the past two decades, remarkable advances in genomics, molecular diagnostics, and precision medicine have transformed the understanding and management of hereditary endocrine tumor syndromes, enabling earlier diagnosis, individualized surveillance strategies, targeted therapies, and improved patient outcomes. This volume brings together contributions from internationally recognized experts to review the current state of knowledge on both well-established and emerging hereditary syndromes affecting the endocrine system. The chapters cover the genetic basis, genotype–phenotype correlations, clinical manifestations, screening recommendations, multidisciplinary management, and future therapeutic perspectives for syndromes predisposing to tumors of the adrenal glands, pituitary, thyroid, parathyroid, pancreas, and neuroendocrine tissues. Special emphasis is placed on recent discoveries in cancer predisposition genes, advances in molecular pathology, the integration of next-generation sequencing into clinical practice, and the implications of hereditary cancer syndromes for patients and their families.

Key features

  • Comprehensive coverage of hereditary endocrine tumor syndromes, encompassing both classical and newly recognized genetic disorders affecting the pituitary, thyroid, parathyroid, adrenal glands, pancreas, and neuroendocrine system, with an emphasis on genotype–phenotype correlations and molecular pathogenesis
  • Translational and multidisciplinary perspective, integrating advances in genomics, molecular diagnostics, precision medicine, surveillance strategies, targeted therapies, genetic counseling, and clinical management of patients and at-risk family members
  • Expert-authored, evidence-based chapters written by internationally recognized leaders in endocrinology, oncology, genetics, pathology, and endocrine surgery, providing practical recommendations while highlighting emerging research directions and future challenges in hereditary endocrine neoplasia

Readership

By combining fundamental biological insights with practical clinical guidance, this volume serves as an authoritative resource for endocrinologists, endocrine surgeons, oncologists, geneticists, pathologists, trainees, and researchers involved in the care and investigation of patients with hereditary endocrine tumors

Table of contents

1. Prevalence and clinical characteristics of hereditary syndromes associated with adrenocortical carcinoma.
Contributors: Karina Priscila Guzmán Espinoza, Alberto Fernandez

2. MEN2: clinical presentation, diagnosis and follow-up
Contributors: María Calatayud

3. MEN1: clinical presentation, diagnosis and follow-up
Contributors: Marla Sevilla

4. NF1: clinical presentation, diagnosis and follow-up
Contributors: Laura González Fernández

5. VHL: clinical presentation, diagnosis and follow-up
Contributors: ARTURO VEGA BEYHART

6. FAMILIAL PARAGANGLIOMA SYNDROME clinical presentation, diagnosis and follow-up
Contributors: Pedro Iglesias

7. Medullary thyroid carcinoma: an update
Contributors: Carlos Garcia Regal

8. Hereditary pheochromocytoma: an update
Contributors: Aura Dulcinea

9. Molecular pathogenesis of pancreatic neuroendocrine tumors
Contributors: Alfonso Moreno

10. Update on molecular and genetic aspects of adrenocortical carcinoma
Contributors: Maribel Olmo

11. Genetics in pituitary tumors
Contributors: Pedro Marques

Product details

  • Edition: 1
  • Latest edition
  • Volume: 134
  • Published: April 1, 2027
  • Language: English

About the editor

MC

Marta Araujo Castro

Marta Araujo-Castro, MD, PhD, is a Consultant Endocrinologist in the Neuroendocrinology and Adrenal Unit of the Department of Endocrinology and Nutrition at Ramón y Cajal University Hospital, Madrid, Spain, and a researcher at the Ramón y Cajal Institute for Health Research (IRYCIS). She obtained her PhD from the Alcalá de Henares University, where she received the Extraordinary Doctorate Award for her research on personalized medicine in adrenal tumors using metabolomics.

Dr. Araujo-Castro completed her residency in Endocrinology and Nutrition at Hospital Universitario Puerta de Hierro Majadahonda and has developed extensive clinical and research expertise in adrenal and pituitary disorders, hereditary endocrine neoplasia, neuroendocrine tumors, and endocrine oncology. She coordinates the Adrenal and Pituitary Units at her institution and actively participates in multidisciplinary endocrine tumor and hereditary cancer boards. Her research focuses on translational endocrinology, particularly the identification of diagnostic, prognostic, and predictive biomarkers in adrenal and pituitary diseases, precision medicine, endocrine tumor genetics, and optimization of the management of patients with adrenal tumors, Cushing syndrome, pheochromocytoma/paraganglioma, and primary aldosteronism. She has led and participated in numerous national and international collaborative studies and is actively involved in several Spanish and European endocrine registries and research networks.

She is committed to advancing evidence-based endocrine practice through multidisciplinary collaboration, clinical research, education, and mentorship, with a particular focus on improving the diagnosis and personalized management of patients with hereditary endocrine tumor syndromes.

Affiliations and expertise
Neuroendocrinology and Adrenal Unit, Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Madrid, Spain; Ramón y Cajal Research Institute (IRYCIS), Madrid, Spain