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Background <p>Comprehensive genomic profiling (CGP) has become more generally accessible to patients with rare cancer, but data on the results and benefits are limited.</p> Objective <p>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.</p> Patients and Methods <p>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 CCCMunich<sup>LMU</sup> Molecular Tumor Board (MTB) between May 2017 and April 2023.</p> Results <p>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 <i>TP53</i> (29.3%), <i>RB1</i> (11.1%), and <i>KRAS</i> (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.</p> Conclusions <p>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.</p>

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Precision Oncology in Rare Endocrine and Neuroendocrine Neoplasms: Experiences and Challenges of the CCCMunichLMU Molecular Tumor Board

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月30日

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  • Klara Dorman,
  • Christoph J. Auernhammer,
  • Christine Spitzweg,
  • Ralf Schmidmaier,
  • Svenja Nölting,
  • Matthias Kroiss,
  • Martin Reincke,
  • Christian Schulz,
  • Martin Angele,
  • Jens Werner,
  • Christine Schmid-Tannwald,
  • Josefine Rauch,
  • Mathias Zacherl,
  • Thomas Knösel,
  • Jörg Kumbrink,
  • Andreas Jung,
  • Frederick Klauschen,
  • Amanda Tufman,
  • Danmei Zhang,
  • Lena Weiss,
  • Stefan Boeck,
  • Michael von Bergwelt-Baildon,
  • Volker Heinemann,
  • C. Benedikt Westphalen,
  • Kathrin Heinrich

摘要

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.