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Growth Hormone Tumor: Molecular Pathologies, Diagnosis, and Therapeutic Strategies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: 31 May 2024 | Viewed by 1067

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Guest Editor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
Interests: endocrinology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Acromegaly, an endocrine disorder secondary to the hypersecretion of growth hormone (GH or the somatotroph hormone) and insulin-like growth factor 1 (IGF-I), usually occurs due to pituitary tumors, only derived from somatotroph cells (somatotropinomas) or plurihormonal tumors, such as mammo-somatotropinomas. A timely diagnosis should be aimed for, as acromegaly is associated with remarkable complications that may reduce life expectancy. Improvement in diagnosis and management increase disease survival and ameliorate QoL in acromegalic patients. New treatment modalities became available in recent years, including somatostatin-receptor ligands (SRLs) and pegvisomant, have significantly improved standard mortality ratios. Molecular and genetic mechanisms have been extensively investigated in acromegalic patients. The identification of different molecular pathways, regulators, influence of the tumoral microenvironment, and germline and somatic mutations on several genes, such as AIP, MEN1, CDKN1B, GPR101, PRKAR1A and GNAS, impact the therapeutic approach and prognosis of these tumors. Thanks to continuous innovation in this field, treatment for acromegaly is becoming increasingly personalised, from biology to target therapy.

We are pleased to invite you to contribute to this Special Issue on growth hormone-secreting tumors.

This Special Issue aims to focus on molecular pathologies, diagnosis and therapeutic strategies in growth hormone-secreting tumors.

In this Special Issue, original research articles and reviews are welcome. Research areas may include (but not limited to) the following: pituitary tumors, etc.

I look forward to receiving your contributions.

Dr. Sabrina Chiloiro
Guest Editor

Manuscript Submission Information

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Keywords

  • acromegaly
  • growth hormone-secreting tumors
  • pituitary tumors
  • molecular targets
  • target therapy

Published Papers (1 paper)

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8 pages, 1707 KiB  
Case Report
The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?
by Sabrina Chiloiro, Ettore Domenico Capoluongo, Flavia Costanza, Angelo Minucci, Antonella Giampietro, Amato Infante, Domenico Milardi, Claudio Ricciardi Tenore, Maria De Bonis, Simona Gaudino, Guido Rindi, Alessandro Olivi, Laura De Marinis, Alfredo Pontecorvi, Francesco Doglietto and Antonio Bianchi
Int. J. Mol. Sci. 2024, 25(3), 1895; https://doi.org/10.3390/ijms25031895 - 5 Feb 2024
Cited by 2 | Viewed by 909
Abstract
Several genetic investigations were conducted to identify germline and somatic mutations in somatotropinomas, a subtype of pituitary tumors. To our knowledge, we report the first acromegaly patient carrying a RET pathogenic variant: c.2410G>A (rs79658334), p.Val804Met. Alongside the fact that the patient’s father and [...] Read more.
Several genetic investigations were conducted to identify germline and somatic mutations in somatotropinomas, a subtype of pituitary tumors. To our knowledge, we report the first acromegaly patient carrying a RET pathogenic variant: c.2410G>A (rs79658334), p.Val804Met. Alongside the fact that the patient’s father and daughter carried the same variant, we investigated the clinical significance of this variant in the context of somatotropinomas and other endocrine tumors, reviewing the RET mutations’ oncogenic mechanisms. The aim was to search for new targets to precisely manage and treat acromegaly. Our case describes a new phenotype associated with the RET pathogenic variant, represented by aggressive acromegaly, and suggests consideration for RET mutation screening if NGS for well-established PitNET-associated gene mutations renders negative. Full article
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