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Diagnostics
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Diagnosis and Management of Neuroendocrine Tumors
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Diagnosis and Management of Neuroendocrine Tumors

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Medical Imaging and Theranostics".

Deadline for manuscript submissions: 30 November 2024 | Viewed by 4563

Special Issue Editor

Dr. Federica Alessandra Cavalcoli

E-Mail Website
Guest Editor
Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milano, Italy
Interests: neuroendocrine tumors; endoscopic ultrasound; chronic atrophic gastritis; familial adenomatous polyposis; endoscopic resection

Special Issue Information

Dear Colleagues,

Neuroendocrine neoplasms (NENs) are rare and heterogeneous tumors arising from cells of the diffuse neuroendocrine system. Recent national registers showed a rise in the incidence of NENs, possibly due to an increased disease awareness and the implementation of diagnostic investigation.

Still, diagnosing NENs remains a clinical challenge because a number of factors, such as the different sites of origin, biological aggressiveness, and their ability to secrete active substances. In addition, the natural history of NENs is highly variable, and prognoses range from excellent to very poor in relation to the lesion size and the grade. In this scenario, NEN management has grey areas that need to be optimized and addressed.

We would like to invite you to contribute a research article or review to this Special Issue, which aims to explore the most recent evidence in the literature on areas related to this topic.

Dr. Federica Alessandra Cavalcoli
Guest Editor

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. Diagnostics is an international peer-reviewed open access semimonthly 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

  • neuroendocrine neoplasm
  • pancreatic neuroendocrine neoplasm
  • gastric neuroendocrine neoplasm
  • small-bowel neuroendocrine neoplasm
  • appendicular neuroendocrine neoplasm
  • lung neuroendocrine neoplasm
  • functional imaging
  • cross-sectional imaging, endoscopic ultrasound

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Published Papers (4 papers)

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Research

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10 pages, 1843 KiB  
Article
Pathological Characteristics, Management, and Prognosis of Rectal Neuroendocrine Tumors: A Retrospective Study from a Tertiary Hospital
by Federica Cavalcoli, Emanuele Rausa, Davide Ferrari, Roberto Rosa, Marco Maccauro, Sara Pusceddu, Giovanna Sabella, Paolo Cantù, Marco Vitellaro, Jorgelina Coppa and Vincenzo Mazzaferro
Diagnostics 2024, 14(17), 1881; https://doi.org/10.3390/diagnostics14171881 - 28 Aug 2024
Viewed by 719
Abstract
Background: Rectal neuroendocrine tumors (rNENs) are rare, constituting 1–2% of rectal tumors, and are often asymptomatic, leading to challenges in early diagnosis. Current management guidelines recommend endoscopic resection for small lesions and surgical intervention for larger or high-risk tumors. This study aims to [...] Read more.
Background: Rectal neuroendocrine tumors (rNENs) are rare, constituting 1–2% of rectal tumors, and are often asymptomatic, leading to challenges in early diagnosis. Current management guidelines recommend endoscopic resection for small lesions and surgical intervention for larger or high-risk tumors. This study aims to retrospectively analyze the pathological characteristics, management, and prognosis of rNEN patients. Methods: Data from the Neuroendocrine Tumor Registry at a tertiary hospital in Milan, Italy from 2005 to 2023 were retrospectively analyzed. Patient demographics, disease characteristics, pathology findings, treatment details, and surveillance data were collected. Statistical analyses included descriptive statistics, multivariable binary logistic regression, and Kaplan–Meier survival analysis. Results: Forty-five patients were included, 53.3% male with a mean age of 57.5 years. Most patients were asymptomatic, with incidental diagnosis during colonoscopy. Endoscopic excision was the primary treatment modality (77.8%), with surgical resection reserved for incomplete or inappropriate endoscopic resections. Disease progression occurred in 13 patients (28.9%), with tumor-related mortality of 22.2%. Kaplan–Meier analysis showed 5- and 10-year survival rates of 68.8% and 59.1%, respectively, with corresponding progression-free survival rates of 72.8% and 54.0%. Tumor stage was significantly associated with disease progression on multivariable analysis (OR = 7.230, p = 0.039). Conclusions: This study highlights the heterogeneous presentation and prognosis of rNENs, with a substantial proportion diagnosed incidentally. Endoscopic management was predominantly utilized, aligning with current guidelines for localized tumors. Tumor stage emerged as a significant predictor of disease progression, emphasizing the importance of accurate staging for optimal management. Further research is warranted to refine management protocols and validate these findings. Full article
(This article belongs to the Special Issue Diagnosis and Management of Neuroendocrine Tumors)
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13 pages, 931 KiB  
Article
Outcome of Endoscopic Resection of Rectal Neuroendocrine Tumors ≤ 10 mm
by Roberta Elisa Rossi, Maria Terrin, Silvia Carrara, Roberta Maselli, Alexia Francesca Bertuzzi, Silvia Uccella, Andrea Gerardo Antonio Lania, Alessandro Zerbi, Cesare Hassan and Alessandro Repici
Diagnostics 2024, 14(14), 1484; https://doi.org/10.3390/diagnostics14141484 - 11 Jul 2024
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Abstract
Background and aim: Guidelines suggest endoscopic resection for rectal neuroendocrine tumors (rNETs) < 10 mm, but the most appropriate resection technique is unclear. In real-life clinical practice, the endoscopic removal of unrecognized rNETs can take place with “simple” techniques and without preliminary staging. [...] Read more.
Background and aim: Guidelines suggest endoscopic resection for rectal neuroendocrine tumors (rNETs) < 10 mm, but the most appropriate resection technique is unclear. In real-life clinical practice, the endoscopic removal of unrecognized rNETs can take place with “simple” techniques and without preliminary staging. The aim of the current study is to report our own experience at a referral center for both neuroendocrine neoplasms and endoscopy. Methods: Retrospective analyses of polypectomies were performed at the Humanitas Research Hospital for rNETs (already diagnosed or previously unrecognized). Results: A total of 19 patients were included, with a median lesion size of 5 mm (range 3–10 mm). Only five lesions were suspected as NETs before removal and underwent endoscopic ultrasound (EUS) before resection, being removed with advanced endoscopic techniques. Unsuspected rNETs were removed by cold polypectomy in eleven cases, EMR in two, and biopsy forceps in one. When described, the margins were negative in four cases, positive in four (R1), and indeterminate in one. The median follow-up was 40 months. A 10 mm polypoid lesion removed with cold snare polypectomy (G2 R1) needed subsequent surgery. Eighteen patients underwent EUS after a median time of 6.5 months from resection. The EUS identified local recurrence after 14 months in a 7 mm polypoid lesion removed with cold snare polypectomy (G1 R1); the lesion was treated with cap-assisted EMR. For all the other lesions, the follow-up was negative. Conclusions: When rNETs are improperly removed without prior staging, caution must be exercised. The data from our cohort suggest that even if inappropriate resection had happened, patients may be safely managed with early EUS evaluation. Full article
(This article belongs to the Special Issue Diagnosis and Management of Neuroendocrine Tumors)
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Review

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20 pages, 871 KiB  
Review
Biochemical Markers for Neuroendocrine Tumors: Traditional Circulating Markers and Recent Development—A Comprehensive Review
by Marianna Franchina, Federica Cavalcoli, Olga Falco, Marta La Milia, Alessandra Elvevi and Sara Massironi
Diagnostics 2024, 14(12), 1289; https://doi.org/10.3390/diagnostics14121289 - 18 Jun 2024
Viewed by 1847
Abstract
Neuroendocrine neoplasms (NENs) are a heterogeneous group of neoplasms presenting unique challenges in diagnosis and management. Traditional markers such as chromogranin A (CgA), pancreatic polypeptide (PP), and neuron-specific enolase (NSE) have limitations in terms of specificity and sensitivity. Specific circulating markers such as [...] Read more.
Neuroendocrine neoplasms (NENs) are a heterogeneous group of neoplasms presenting unique challenges in diagnosis and management. Traditional markers such as chromogranin A (CgA), pancreatic polypeptide (PP), and neuron-specific enolase (NSE) have limitations in terms of specificity and sensitivity. Specific circulating markers such as serotonin and its metabolite 5-hydroxyindoleacetic acid (5-HIAA) and various gastrointestinal hormones such as gastrin, glucagon, somatostatin, and vasoactive intestinal peptide (VIP) have a role in identifying functional NENs. Recent advances in molecular and biochemical markers, also accounting for novel genomic and proteomic markers, have significantly improved the landscape for the diagnosis and monitoring of NENs. This review discusses these developments, focusing on both traditional markers such as CgA and NSE, as well as specific hormones like gastrin, insulin, somatostatin, glucagon, and VIP. Additionally, it covers emerging genomic and proteomic markers that are shaping current research. The clinical applicability of these markers is highlighted, and their role in improving diagnostic accuracy, predicting surgical outcomes, and monitoring response to treatment is demonstrated. The review also highlights the need for further research, including validation of these markers in larger studies, development of standardized assays, and integration with imaging techniques. The evolving field of biochemical markers holds promise for improving patient outcomes in the treatment of NENs, although challenges in standardization and validation remain. Full article
(This article belongs to the Special Issue Diagnosis and Management of Neuroendocrine Tumors)
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Other

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10 pages, 559 KiB  
Systematic Review
The Optimal Approach to Surgical Management of Goblet Cell Carcinoid of the Appendix: A Systematic Review
by Mahmoud M. Salama, Maeve A. O’Neill, Éanna J. Ryan, Niall J. O’Sullivan, Timothy S. Nugent, Hugo C. Temperley, Brian J. Mehigan, John O. Larkin, David Gallagher, Grainne O’Kane, Paul H. McCormick and Michael E. Kelly
Diagnostics 2024, 14(16), 1773; https://doi.org/10.3390/diagnostics14161773 - 14 Aug 2024
Viewed by 653
Abstract
Introduction: Goblet cell carcinoid (GCC) is a rare and poorly understood appendiceal neoplasm, exhibiting mixed histological and aggressive clinical features. Current guidelines recommend right hemicolectomy in all cases, although there is conflicting evidence that appendicectomy alone may be sufficient. This review aims to [...] Read more.
Introduction: Goblet cell carcinoid (GCC) is a rare and poorly understood appendiceal neoplasm, exhibiting mixed histological and aggressive clinical features. Current guidelines recommend right hemicolectomy in all cases, although there is conflicting evidence that appendicectomy alone may be sufficient. This review aims to identify the optimal surgical management for appendiceal GCC. Methods: A systematic review was performed by searching MEDLINE, Embase, Scopus and the Cochrane Register of Controlled Trials. Randomised controlled trials, cohort studies or large case series (>5 patients) reporting clinical outcomes for patients undergoing surgical management of GCC of the appendix were included. Outcomes extracted included participant and tumour characteristics, type of surgery and survival data. Results: A total of 1341 studies were retrieved. After duplicate removal, 796 titles were screened for relevance prior to abstract and full text review. A total of six studies were included for analysis, comprising 3177 patients—1629 females and 1548 males. The median age ranged from 51 to 72 years. A total of 2329 patients underwent right hemicolectomy, while 824 were treated with appendicectomy only. Overall, the included studies report increased survival in patients undergoing right hemicolectomy compared to appendicectomy alone. A meta-analysis was not possible due to insufficient data reported in the published literature to date. Conclusions: There is no consensus regarding the optimal surgical management of appendiceal GCC, as outcomes-based data comparing surgical interventions are lacking. It is possible that some patients with favourable features are overtreated. The absence of robust evidence to support a more conservative approach means that right hemicolectomy remains the standard of care for all patients, in keeping with current international guidelines. The rarity of this condition and limited data in the published studies remain barriers to evidence-based best clinical practice. Full article
(This article belongs to the Special Issue Diagnosis and Management of Neuroendocrine Tumors)
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