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Present and Future of Personalised Medicine for Endocrine Cancers
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Present and Future of Personalised Medicine for Endocrine Cancers

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: closed (10 February 2022) | Viewed by 27938

Printed Edition Available!
A printed edition of this Special Issue is available here.

Special Issue Editors

Dr. Cristina L. Ronchi

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Guest Editor
Institute of Metabolism and System Research (IMSR), University of Birmingham, Birmingham, UK
Interests: endocrine cancer; neuroendocrine tumours; adrenal tumours; adrenocortical carcinoma; endocrine oncology; molecular pathogenesis; prognostic biomarkers; drug targets; precision medicine
Dr. Barbara Altieri

E-Mail
Guest Editor
Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital, University of Wuerzburg, 97080 Wuerzburg, Germany
Interests: adrenal tumor; neuroendocrine tumor; genetic syndrome

Special Issue Information

Dear Colleagues,

Major technological advances in genomics have made it possible to identify critical genetic alterations in cancer, rendering oncology well along the path to “personalised cancer medicine”. Thanks to developments in genetics, several mutations and gene rearrangements have been identified in patients with endocrine cancers (e.g., thyroid and adrenocortical carcinoma). In particular, each patient can be considered as a unique, individual one, with unique genetic information. This is particularly important when talking about targeted anticancer drugs that, contrary to standard chemotherapy, aim at one or more definite molecular pathway on cancer cells—so their selection is underlying patient’s genetic information.

The aim of this Special Issue is to offer an overview of exciting new research in the area of endocrine tumours may set the stage for an innovative personalised management and precision medicine modalities for individualised care.

New affordable individual genomic analyses as well as the opportunity to test new compounds in primary cells may allow a personalised management of patients with endocrine malignancies. This approach may improve the prediction of clinical outcome and therapeutic effectiveness, as well as help to avoid the use of ineffective drugs. However, further efforts are needed to obtain an adjustment of clinical management in patients with endocrine cancers that would rely solely or in great part on genetic information.

We are soliciting basic, translational and clinical papers on personalised medicine in endocrine malignancies (i.e., thyroid and adrenal), especially focusing on diagnostic and prognostic biomarkers as well as novel drug targets or targeted treatments, including eventual clinical trials.

Dr. Cristina L. Ronchi
Dr. Barbara Altieri
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • endocrine tumours
  • biomarkers
  • diagnostic markers
  • prognostic markers
  • targeted treatment
  • drug targets
  • endocrine oncology
  • precision medicine

Published Papers (10 papers)

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Editorial

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3 pages, 190 KiB  
Editorial
Special Issue: Present and Future of Personalised Medicine for Endocrine Cancers
by Cristina L. Ronchi and Barbara Altieri
J. Pers. Med. 2022, 12(5), 710; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm12050710 - 29 Apr 2022
Viewed by 1225
Abstract
Major technological advances in genomics have made it possible to identify critical genetic alterations in cancer, rendering oncology well along the path to personalised cancer medicine [...] Full article
(This article belongs to the Special Issue Present and Future of Personalised Medicine for Endocrine Cancers)

Research

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17 pages, 1181 KiB  
Article
Needs, Preferences, and Values during Different Treatment Decisions of Patients with Differentiated Thyroid Cancer
by Anna Koot, Romana Netea-Maier, Petronella Ottevanger, Rosella Hermens and Peep Stalmeier
J. Pers. Med. 2021, 11(7), 682; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm11070682 - 20 Jul 2021
Cited by 3 | Viewed by 2031
Abstract
Background: The purpose of this study was to identify the needs, preferences, and values of patients with differentiated thyroid cancer (DTC) and the physicians treating patients with DTC regarding two different treatment decisions, namely: the extent of primary surgery (low-risk patients) and the [...] Read more.
Background: The purpose of this study was to identify the needs, preferences, and values of patients with differentiated thyroid cancer (DTC) and the physicians treating patients with DTC regarding two different treatment decisions, namely: the extent of primary surgery (low-risk patients) and the tyrosine kinase inhibitor (TKI) treatment (high-risk patients). Methods: A qualitative study was conducted. There were two physician focus groups discussing the extent of primary surgery. One included endocrinologists (n = 4) and surgeons (n = 5), and the other included nuclear medicine physicians (n = 3) treating patients with low-risk DTC. The physicians focus group discussing waiting or starting TKIs included endocrinologists (n = 2) and oncologists (n = 5) treating patients with advanced radioactive iodide (RAI) refractory DTC. Moreover, one patient focus group per treatment decision took place. In total 13 patients and 19 physicians participated. Interviews were audio-taped, fully transcribed verbatim, and analyzed. Results: Several themes were identified. Patients, but not physicians, mentioned the importance of a strong doctor–patient relationship. Patients in both treatment decision groups wanted to receive more detailed information, whereas physicians preferred providing more general information. Patients in the TKI decision group focused on palliative care, whereas physicians focused more on the effect and benefit of TKIs. Conclusions: Considering the identified themes in DTC, based on the patients’ needs, preferences, and values, enables us to improve doctor–patient communication and to develop decision support tools. Full article
(This article belongs to the Special Issue Present and Future of Personalised Medicine for Endocrine Cancers)
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13 pages, 1641 KiB  
Article
Differential Expression Profiles of Cell-to-Matrix-Related Molecules in Adrenal Cortical Tumors: Diagnostic and Prognostic Implications
by Marco Volante, Ida Rapa, Jasna Metovic, Francesca Napoli, Cristian Tampieri, Eleonora Duregon, Massimo Terzolo and Mauro Papotti
J. Pers. Med. 2021, 11(5), 378; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm11050378 - 06 May 2021
Cited by 3 | Viewed by 2253
Abstract
The molecular mechanisms of adrenocortical carcinoma development are incompletely defined. De-regulation of cellular-to-extracellular matrix interactions and angiogenesis appear among mechanisms associated to the malignant phenotype. Our aim was to investigate, employing PCR-based array profiling, 157 molecules involved in cell-to-matrix interactions and angiogenesis in [...] Read more.
The molecular mechanisms of adrenocortical carcinoma development are incompletely defined. De-regulation of cellular-to-extracellular matrix interactions and angiogenesis appear among mechanisms associated to the malignant phenotype. Our aim was to investigate, employing PCR-based array profiling, 157 molecules involved in cell-to-matrix interactions and angiogenesis in a frozen series of 6 benign and 6 malignant adrenocortical neoplasms, to identify novel pathogenetic markers. In 14 genes, a significant dysregulation was detected in adrenocortical carcinomas as compared to adenomas, most of them being downregulated. Three exceptions—hyaluronan synthase 1 (HAS-1), laminin α3 and osteopontin genes—demonstrated an increased expression in adrenocortical carcinomas of 4.46, 4.23 and 20.32-fold, respectively, and were validated by immunohistochemistry on a series of paraffin-embedded tissues, including 20 adenomas and 73 carcinomas. Osteopontin protein, absent in all adenomas, was expressed in a carcinoma subset (25/73) (p = 0.0022). Laminin α3 and HAS-1 were mostly expressed in smooth muscle and endothelial cells of the vascular network of both benign and malignant adrenocortical tumors. HAS-1 was also detected in tumor cells, with a more intense pattern in carcinomas. In this group, strong expression was significantly associated with more favorable clinicopathological features. These data demonstrate that cell-to-matrix interactions are specifically altered in adrenocortical carcinoma and identify osteopontin and HAS-1 as novel potential diagnostic and prognostic biomarkers, respectively, in adrenal cortical tumors. Full article
(This article belongs to the Special Issue Present and Future of Personalised Medicine for Endocrine Cancers)
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11 pages, 956 KiB  
Article
What Is the Optimal Duration of Adjuvant Mitotane Therapy in Adrenocortical Carcinoma? An Unanswered Question
by Vittoria Basile, Soraya Puglisi, Barbara Altieri, Letizia Canu, Rossella Libè, Filippo Ceccato, Felix Beuschlein, Marcus Quinkler, Anna Calabrese, Paola Perotti, Paola Berchialla, Ulrich Dischinger, Felix Megerle, Eric Baudin, Isabelle Bourdeau, André Lacroix, Paola Loli, Alfredo Berruti, Darko Kastelan, Harm R. Haak, Martin Fassnacht and Massimo Terzoloadd Show full author list remove Hide full author list
J. Pers. Med. 2021, 11(4), 269; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm11040269 - 04 Apr 2021
Cited by 14 | Viewed by 2524
Abstract
A relevant issue on the treatment of adrenocortical carcinoma (ACC) concerns the optimal duration of adjuvant mitotane treatment. We tried to address this question, assessing whether a correlation exists between the duration of adjuvant mitotane treatment and recurrence-free survival (RFS) of patients with [...] Read more.
A relevant issue on the treatment of adrenocortical carcinoma (ACC) concerns the optimal duration of adjuvant mitotane treatment. We tried to address this question, assessing whether a correlation exists between the duration of adjuvant mitotane treatment and recurrence-free survival (RFS) of patients with ACC. We conducted a multicenter retrospective analysis on 154 ACC patients treated for ≥12 months with adjuvant mitotane after radical surgery and who were free of disease at the mitotane stop. During a median follow-up of 38 months, 19 patients (12.3%) experienced recurrence. We calculated the RFS after mitotane (RFSAM), from the landmark time-point of mitotane discontinuation, to overcome immortal time bias. We found a wide variability in the duration of adjuvant mitotane treatment among different centers and also among patients cared for at the same center, reflecting heterogeneous practice. We did not find any survival advantage in patients treated for longer than 24 months. Moreover, the relationship between treatment duration and the frequency of ACC recurrence was not linear after stratifying our patients in tertiles of length of adjuvant treatment. In conclusion, the present findings do not support the concept that extending adjuvant mitotane treatment over two years is beneficial for ACC patients with low to moderate risk of recurrence. Full article
(This article belongs to the Special Issue Present and Future of Personalised Medicine for Endocrine Cancers)
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12 pages, 1051 KiB  
Article
The Role of Immunohistochemical Markers for the Diagnosis and Prognosis of Adrenocortical Neoplasms
by Anna Angelousi, Georgios Kyriakopoulos, Fani Athanasouli, Anastasia Dimitriadi, Eva Kassi, Chrysanthi Aggeli, George Zografos and Gregory Kaltsas
J. Pers. Med. 2021, 11(3), 208; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm11030208 - 15 Mar 2021
Cited by 7 | Viewed by 2530
Abstract
Adrenal cortical carcinoma (ACC) is a rare cancer with poor prognosis that needs to be distinguished from adrenocortical adenomas (ACAs). Although, the recently developed transcriptome analysis seems to be a reliable tool for the differential diagnosis of adrenocortical neoplasms, it is not widely [...] Read more.
Adrenal cortical carcinoma (ACC) is a rare cancer with poor prognosis that needs to be distinguished from adrenocortical adenomas (ACAs). Although, the recently developed transcriptome analysis seems to be a reliable tool for the differential diagnosis of adrenocortical neoplasms, it is not widely available in clinical practice. We aim to evaluate histological and immunohistochemical markers for the distinction of ACCs from ACAs along with assessing their prognostic role. Clinical data were retrospectively analyzed from 37 patients; 24 archived, formalin-fixed, and paraffin-embedded ACC samples underwent histochemical analysis of reticulin and immunohistochemical analysis of p27, p53, Ki-67 markers and were compared with 13 ACA samples. Weiss and Helsinki scores were also considered. Kaplan−Meier and univariate Cox regression methods were implemented to identify prognostic effects. Altered reticulin pattern, Ki-67% labelling index and overexpression of p53 protein were found to be useful histopathological markers for distinguishing ACAs from ACCs. Among the studied markers, only pathological p53 nuclear protein expression was found to reach statistically significant association with poor survival and development of metastases, although in a small series of patients. In conclusion, altered reticulin pattern and p53/Ki-67 expression are useful markers for distinguishing ACCs from ACAs. Immunohistopathology alone cannot discriminate ACCs with different prognosis and it should be combined with morphological criteria and transcriptome analysis. Full article
(This article belongs to the Special Issue Present and Future of Personalised Medicine for Endocrine Cancers)
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10 pages, 1029 KiB  
Article
Correlation between F18-FDG PET/CT Imaging and BRAF V600E Genetic Mutation for the Early Assessment of Treatment Response in Papillary Thyroid Cancers
by Andra Piciu, Maria-Iulia Larg and Doina Piciu
J. Pers. Med. 2020, 10(2), 52; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm10020052 - 19 Jun 2020
Cited by 3 | Viewed by 3323
Abstract
In thyroid neoplastic pathology, the BRAF V600E mutation is shown to be involved in the oncogenesis of papillary thyroid cancer and its subtypes. The purpose of this study is to evaluate the correlation between the mutation of the BRAF V600E oncogene and the [...] Read more.
In thyroid neoplastic pathology, the BRAF V600E mutation is shown to be involved in the oncogenesis of papillary thyroid cancer and its subtypes. The purpose of this study is to evaluate the correlation between the mutation of the BRAF V600E oncogene and the pathological standardized uptake values (SUV) at the F18-fluorodeoxyglucose (F18-FDG) positron emission tomography/computed tomography (PET/CT) evaluation, for a group of 20 patients with radically treated (total thyroidectomy and radioiodine therapy) papillary thyroid cancer, with subclinical persistent disease, at 6 months after the initial treatment. We analyzed the correlations between the values of SUV and the presence of the BRAF mutation as well with other prognostic factors such as stage, age, specific tumor markers (thyroglobulin and anti-thyroglobulin), extrathyroid extension, the presence of metastatic lymph nodes or distant metastasis. The value of SUV in the case of BRAF+ (positive) patients was higher than in the negative ones, but without statistical significance, thus, the values of the SUV cannot be a predictable factor for the presence of the genetic mutation. There was a statistically significant correlation in BRAF+ subgroup between the SUV values and the positive resection limit following surgery, showing a higher SUV value in the PET/CT evaluation. No correlation was observed between the aforementioned prognostic factors involved in papillary thyroid cancer and the BRAF V600E mutation. Full article
(This article belongs to the Special Issue Present and Future of Personalised Medicine for Endocrine Cancers)
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Review

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15 pages, 633 KiB  
Review
Precision Medicine in Phaeochromocytoma and Paraganglioma
by Bettina Winzeler, Benjamin G. Challis and Ruth T. Casey
J. Pers. Med. 2021, 11(11), 1239; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm11111239 - 22 Nov 2021
Cited by 8 | Viewed by 2147
Abstract
Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine [...] Read more.
Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours with uncertain malignant potential. Over recent years, the molecular profiling of PPGLs has increased our understanding of the mechanisms that drive tumorigenesis. A high proportion of PPGLs are hereditary, with non-hereditary tumours commonly harbouring somatic mutations in known susceptibility genes. Through detailed interrogation of genotype-phenotype, correlations PPGLs can be classified into three different subgroups or clusters. Thus, PPGLs serve as an ideal paradigm for developing, testing and implementing precision medicine concepts in the clinic. In this review, we provide an overview of PPGLs and highlight how detailed molecular characterisation of these tumours provides current and future opportunities for precision oncology. Full article
(This article belongs to the Special Issue Present and Future of Personalised Medicine for Endocrine Cancers)
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16 pages, 1136 KiB  
Review
Predictors of Response and Survival to Multikinase Inhibitors in Radioiodine Resistant Differentiated Thyroid Cancer
by Tiziana Feola, Alessia Cozzolino, Roberta Centello, Carla Pandozzi, Maria Grazia Tarsitano and Elisa Giannetta
J. Pers. Med. 2021, 11(7), 674; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm11070674 - 18 Jul 2021
Cited by 6 | Viewed by 2381
Abstract
Sorafenib and lenvatinib are the only multikinase inhibitors (MKIs) approved for the treatment of radioactive iodine refractory differentiated thyroid cancer (RR-DTC). Although they have been demonstrated to improve progression free survival and overall response rate, the risk of toxicities is very high, worsening [...] Read more.
Sorafenib and lenvatinib are the only multikinase inhibitors (MKIs) approved for the treatment of radioactive iodine refractory differentiated thyroid cancer (RR-DTC). Although they have been demonstrated to improve progression free survival and overall response rate, the risk of toxicities is very high, worsening patients’ quality of life. Therefore, predicting MKI treatment outcomes in the setting of RR-DTC is very challenging for optimizing patients’ management. The current review provides an overview of the predictive factors for the response and survival of sorafenib and lenvatinib in RR-DTC. In this setting, a systemic therapy should be considered after conducting a multidisciplinary discussion aimed at evaluating the risk-benefit ratio of the treatment and taking into account several clinical, biochemical, and molecular factors. Age, performance status, and cancer-related symptoms are the most important clinical markers to be considered prior to starting MKI treatment, together with tumor burden. Some tissue and circulating biomarkers have been investigated, those involved in the angiogenic pathways being the most promising. Finally, prospective clinical trials aimed at evaluating predictive markers for therapeutic response are needed for tailoring patient management and allowing more appropriate treatment choices. Full article
(This article belongs to the Special Issue Present and Future of Personalised Medicine for Endocrine Cancers)
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16 pages, 4495 KiB  
Review
Intratumoral Heterogeneity in Differentiated Thyroid Tumors: An Intriguing Reappraisal in the Era of Personalized Medicine
by Antonio Ieni, Roberto Vita, Cristina Pizzimenti, Salvatore Benvenga and Giovanni Tuccari
J. Pers. Med. 2021, 11(5), 333; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm11050333 - 23 Apr 2021
Cited by 6 | Viewed by 4070
Abstract
Differentiated thyroid tumors (DTTs) are characterized by significant molecular variability in both spatial and temporal intra-tumoral heterogeneity (ITH), that could influence the therapeutic management. ITH phenomenon appears to have a relevant role in tumor growth, aggressive behavior and drug resistance. Accordingly, characteristics and [...] Read more.
Differentiated thyroid tumors (DTTs) are characterized by significant molecular variability in both spatial and temporal intra-tumoral heterogeneity (ITH), that could influence the therapeutic management. ITH phenomenon appears to have a relevant role in tumor growth, aggressive behavior and drug resistance. Accordingly, characteristics and consequences of ITH in DTTs should be better analyzed and understood in order to guide clinical practice, improving survival. Consequently, in the present review, we investigated morphological and molecular ITH of DTTs in benign, borderline neoplasms and in malignant entities, summarizing the most significant data. Molecular testing in DTTs documents a high risk for recurrence of cancer associated with BRAFV600E, RET/PTC 1/3, ALK and NTRK fusions, while the intermediate risk may be related to BRAFK601E, H/K/N RAS and PAX8/PPARγ. In addition, it may be suggested that tumor genotype is associated with peculiar phenotype. Full article
(This article belongs to the Special Issue Present and Future of Personalised Medicine for Endocrine Cancers)
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Other

12 pages, 1713 KiB  
Case Report
Immunotherapy in Corticotroph and Lactotroph Aggressive Tumors and Carcinomas: Two Case Reports and a Review of the Literature
by Camille Duhamel, Mirela Diana Ilie, Henri Salle, Adjoa Sika Nassouri, Stephan Gaillard, Elise Deluche, Richard Assaker, Laurent Mortier, Christine Cortet and Gérald Raverot
J. Pers. Med. 2020, 10(3), 88; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm10030088 - 13 Aug 2020
Cited by 49 | Viewed by 3700
Abstract
Once temozolomide has failed, no other treatment is recommended for pituitary carcinomas and aggressive pituitary tumors. Recently, the use of immune checkpoint inhibitors (ICIs) has raised hope, but so far, only one corticotroph carcinoma and one aggressive corticotroph tumor treated with immunotherapies have [...] Read more.
Once temozolomide has failed, no other treatment is recommended for pituitary carcinomas and aggressive pituitary tumors. Recently, the use of immune checkpoint inhibitors (ICIs) has raised hope, but so far, only one corticotroph carcinoma and one aggressive corticotroph tumor treated with immunotherapies have been reported in the literature. Here, we present two cases, one corticotroph carcinoma and one aggressive prolactinoma (the first one reported in the literature) treated with ipilimumab (1 mg/kg) and nivolumab (3 mg/kg) every three weeks, followed by maintenance treatment with nivolumab (3 mg/kg every 2 weeks) in the case of the corticotroph carcinoma, and we compare them with the two previously reported cases. Patient #1 presented a biochemical partial response (plasma ACTH decreased from 13,813 to 841 pg/mL) and dissociated radiological response to the combined ipilimumab and nivolumab—the pituitary mass decreased from 37 × 32 × 41 to 29 × 23 × 42 mm, and the pre-existing liver metastases decreased in size (the largest one from 45 to 14 mm) or disappeared, while a new 11-mm liver metastasis appeared. The maintenance nivolumab (21 cycles) resulted in a stable disease for the initial liver metastases, and in progressive disease for the newly appeared metastasis (effectively treated with radiofrequency ablation) and the pituitary mass. Patient #2 presented radiological and biochemical progressive disease after two cycles of ICIs—the pituitary mass increased from 38 × 42 × 26 to 53 × 57 × 44 mm, and the prolactin levels increased from 4410 to 9840 ng/mL. In conclusion, ICIs represent a promising therapeutic option for aggressive pituitary tumors and carcinomas. The identification of subgroups of responders will be key. Full article
(This article belongs to the Special Issue Present and Future of Personalised Medicine for Endocrine Cancers)
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