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Background <p>Appendiceal carcinoma (AC) is a rare malignancy and has distinct genomic features, but&#xa0;their impact on prognosis and chemotherapy efficacy requires further investigation.</p> Methods <p>This retrospective study analyzed patients with advanced AC from the Japanese nationwide comprehensive genomic profiling test database, the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) database, focusing on genetic alterations and their associations with clinical outcomes.</p> Results <p>Of the 314 patients, the histological types Queryincluded adenocarcinoma (Ad) (51.9%), mucinous adenocarcinoma (MAd) (30.3%), goblet cell adenocarcinoma (12.4%), and signet-ring cell adenocarcinoma (5.4%). The most common mutations were <i>KRAS</i> (52.5%), <i>TP53</i> (49.4%), <i>SMAD4</i> (18.8%), and <i>GNAS</i> (17.2%). <i>KRAS</i> mutations were most frequent in MAd (68.4%) and Ad (58.9%), whereas <i>TP53</i> mutations were mostly prevalent in Ad (62.6%). We classified patients into molecular subtypes based on the presence of mutations and analyzed differences in overall survival (OS) by molecular subtype. Patients with <i>TP53</i>-mutant (mut) dominant tumors (all <i>TP53</i>-mut) and <i>KRAS</i>-mut focused tumors (<i>TP53</i>-wild-type (wt)/<i>GNAS</i>-wt/<i>KRAS</i>-mut/any <i>SMAD4</i>) showed a poorer median OS compared with those with <i>GNAS</i>-mut focused tumors (<i>TP53</i>-wt/<i>GNAS</i>-mut/any <i>KRAS</i> /any <i>SMAD4</i>) (median 47.4 and 37.5&#xa0;months vs. not reached; <i>p</i> = 0.01 and <i>p</i> = 0.01, respectively). <i>TP53</i> mutation was associated with poor time to treatment failure and OS with the oxaliplatin-based regimen for first-line chemotherapy.</p> Conclusions <p>This study suggested that the genetic mutations influenced the prognosis and chemotherapy efficacy in AC.</p>

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Impact of genetic mutations on prognosis and chemotherapy efficacy in advanced appendiceal carcinoma: insights from the nationwide Japanese comprehensive genomic profiling test database

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  • 发表日期：

    2025年2月28日

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  • Sakura Hiraide Taniguchi,
  • Masanobu Takahashi,
  • Shih-Wei Chiu,
  • Keigo Komine,
  • Shonosuke Wakayama,
  • Ryunosuke Numakura,
  • Yuya Yoshida,
  • Yuki Kasahara,
  • Kota Ouchi,
  • Hiroo Imai,
  • Ken Saijo,
  • Hidekazu Shirota,
  • Chikashi Ishioka

摘要

Background

Appendiceal carcinoma (AC) is a rare malignancy and has distinct genomic features, but their impact on prognosis and chemotherapy efficacy requires further investigation.

Methods

This retrospective study analyzed patients with advanced AC from the Japanese nationwide comprehensive genomic profiling test database, the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) database, focusing on genetic alterations and their associations with clinical outcomes.

Results

Of the 314 patients, the histological types Queryincluded adenocarcinoma (Ad) (51.9%), mucinous adenocarcinoma (MAd) (30.3%), goblet cell adenocarcinoma (12.4%), and signet-ring cell adenocarcinoma (5.4%). The most common mutations were KRAS (52.5%), TP53 (49.4%), SMAD4 (18.8%), and GNAS (17.2%). KRAS mutations were most frequent in MAd (68.4%) and Ad (58.9%), whereas TP53 mutations were mostly prevalent in Ad (62.6%). We classified patients into molecular subtypes based on the presence of mutations and analyzed differences in overall survival (OS) by molecular subtype. Patients with TP53-mutant (mut) dominant tumors (all TP53-mut) and KRAS-mut focused tumors (TP53-wild-type (wt)/GNAS-wt/KRAS-mut/any SMAD4) showed a poorer median OS compared with those with GNAS-mut focused tumors (TP53-wt/GNAS-mut/any KRAS /any SMAD4) (median 47.4 and 37.5 months vs. not reached; p = 0.01 and p = 0.01, respectively). TP53 mutation was associated with poor time to treatment failure and OS with the oxaliplatin-based regimen for first-line chemotherapy.

Conclusions

This study suggested that the genetic mutations influenced the prognosis and chemotherapy efficacy in AC.