Related Experiment Video
Updated: Jun 8, 2026
Multiplex Therapeutic Drug Monitoring by Isotope-dilution HPLC-MS/MS of Antibiotics in Critical Illnesses
Published on: August 30, 2018
Precision Oncology in Rare Endocrine and Neuroendocrine Neoplasms: Experiences and Challenges of the CCCMunichLMU
Klara Dorman1,2, Christoph J Auernhammer3,4, Christine Spitzweg3,4
1Department of Medicine III and Comprehensive Cancer Center, LMU University Hospital, LMU Munich, Marchioninistr. 15, 81377, Munich, Germany.
Background:
Comprehensive genomic profiling (CGP) has become more generally accessible to patients with rare cancer, but data on the results and benefits are limited.
Objective:
Our objective was to gain a real-world understanding of the molecular landscape and targeted treatment options in neuroendocrine tumors, neuroendocrine carcinomas, adrenocortical carcinomas, pheochromocytomas, and carcinoids.
Patients And Methods:
In this retrospective cohort study, we analyzed CGP results and clinical data from patients with neuroendocrine tumors, neuroendocrine carcinomas, adrenocortical carcinomas, pheochromocytomas, and carcinoids who were discussed in the CCCMunichLMU Molecular Tumor Board (MTB) between May 2017 and April 2023.
Results:
In total, 104 patients with endocrine and neuroendocrine neoplasms were discussed in the MTB. CGP was technically successful in 99 patients. The most commonly mutated genes were TP53 (29.3%), RB1 (11.1%), and KRAS (10.1%). The highest overall prevalence of pathogenic alterations was detected in neuroendocrine carcinomas (76.9%) and carcinoids (83.3%), and the lowest prevalence of pathogenic alterations was seen in adrenocortical carcinoma (37.5%). Of the 99 patients with successful CGP, 35 received a treatment recommendation from the MTB based on the CGP results. Of these, ten patients ultimately received the recommended treatment. Of the ten treated patients, four experienced a longer progression-free survival under the targeted treatment than under their previous treatment.
Conclusions:
One-third of patients with rare endocrine and neuroendocrine neoplasms who underwent CGP had a druggable alteration and received a treatment recommendation from the MTB. However, only 28.6% of these patients were treated accordingly. Our experience highlights the unmet medical need for targeted treatment options in patients with rare cancers.
Insights
Comprehensive genomic profiling identified actionable mutations in rare endocrine cancers. While one-third of patients received treatment recommendations, only a fraction were treated, highlighting an unmet need for targeted therapies.
Area of Science:
- Oncology
- Genomics
- Molecular Pathology
Background:
- Comprehensive genomic profiling (CGP) is increasingly accessible for rare cancers, yet data on its outcomes remain limited.
- Rare endocrine and neuroendocrine neoplasms present unique challenges in diagnosis and treatment.
Purpose of the Study:
- To investigate the molecular landscape of rare endocrine and neuroendocrine neoplasms.
- To identify targeted treatment options through real-world data analysis.
- To evaluate the utility of CGP in guiding treatment decisions for these rare cancers.
Main Methods:
- Retrospective cohort study analyzing CGP results and clinical data.
- Inclusion of patients with neuroendocrine tumors, neuroendocrine carcinomas, adrenocortical carcinomas, pheochromocytomas, and carcinoids.
- Data collected from patients discussed in a Molecular Tumor Board (MTB) from May 2017 to April 2023.
Main Results:
- CGP was successful in 99 of 104 patients with endocrine and neuroendocrine neoplasms.
- TP53, RB1, and KRAS were the most frequently mutated genes.
- Pathogenic alterations were most prevalent in neuroendocrine carcinomas (76.9%) and carcinoids (83.3%), and least in adrenocortical carcinoma (37.5%).
- 35 patients received treatment recommendations, with 10 ultimately receiving targeted therapy.
- Four of the ten treated patients showed improved progression-free survival.
Conclusions:
- One-third of patients with rare endocrine/neuroendocrine neoplasms had actionable alterations identified by CGP.
- A significant gap exists between treatment recommendations and actual treatment delivery (28.6% treated).
- The study underscores a critical unmet medical need for effective targeted treatments in rare cancers.
Related Concept Videos
02:57Targeted Cancer Therapies
There are several types of targeted therapies against specific...
02:56Treatment Resistant Cancers
02:50Combination Therapies and Personalized Medicine
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
02:57Targeted Cancer Therapies
There are several types of targeted therapies against specific...
02:56Treatment Resistent Cancers