Near complete remission of an inoperable pancreatic acinar cell carcinoma after BRAF-/MEK-inhibitor treatment—A case report and review of the literature

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Genes, Chromosomes & Cancer Pub Date : 2024-02-10 DOI:10.1002/gcc.23222

Lennart von Fritsch, Nikolas von Bubnoff, Klaus Weber, Jutta Kirfel, Cleopatra Schreiber, Tobias Keck, Ulrich Wellner

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Abstract

Introduction

Pancreatic acinar cell carcinomas are rare malignant neoplasms. High-quality evidence about the best treatment strategy is lacking. We present the case of a 52-year-old male with a BRAF^V600E-mutated PACC who experienced a complete remission after chemotherapy with BRAF-/MEK-inhibitors.

Case

The patient presented with upper abdomen pain, night sweat, and weight loss. CT scan showed a pancreatic tumor extending from the pancreas head to body. Histological workup identified an acinar cell carcinoma. As the tumor was inoperable, chemotherapy with FOFIRNIOX was initiated and initially showed a slight regression of disease. The regimen had to be discontinued due to severe side effects. Molecular analysis identified a BRAF^V600E mutation, so the patient was started on BRAF- and MEK-inhibitors (dabrafenib/trametinib). After 16 months, CT scans showed a near complete remission with a markedly improved overall health.

Discussion

Studies suggest that up to one-fourth of PACCs carry a BRAF mutation and might therefore be susceptible to a BRAF-/MEK-inhibitor therapy. This offers a new therapeutic pathway to treat this rare but malignant neoplasm.

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无法手术的胰腺尖细胞癌在接受 BRAF/MEK 抑制剂治疗后几近完全缓解--病例报告和文献综述。

简介胰腺尖细胞癌是一种罕见的恶性肿瘤。目前尚缺乏关于最佳治疗策略的高质量证据。病例：患者出现上腹部疼痛、盗汗和体重减轻。CT 扫描显示，胰腺肿瘤从胰头延伸至胰体。组织学检查发现是尖细胞癌。由于肿瘤无法手术，患者开始接受 FOFIRNIOX 化疗，起初病情略有缓解。由于严重的副作用，化疗方案不得不中止。分子分析发现了 BRAFV600E 突变，因此患者开始使用 BRAF 和 MEK 抑制剂（达拉菲尼/曲美替尼）。16 个月后，CT 扫描显示患者病情接近完全缓解，总体健康状况明显改善：讨论：研究表明，多达四分之一的PACC携带BRAF突变，因此可能对BRAF/MEK抑制剂治疗敏感。这为治疗这种罕见的恶性肿瘤提供了一条新的治疗途径。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genes, Chromosomes & Cancer 医学-遗传学

CiteScore

7.00

自引率

8.10%

发文量

审稿时长

4-8 weeks

期刊介绍： Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.