Hepatic metastasis of mucinous adenocarcinoma with neuroendocrine differentiation harboring a rare HER2 R678Q mutation: a case report and literature review - Scorecard - MDSpire

Hepatic metastasis of mucinous adenocarcinoma with neuroendocrine differentiation harboring a rare HER2 R678Q mutation: a case report and literature review

  • By

  • Zhitao Chen

  • Chenchen Ding

  • Yangjun Gu

  • Qiyong Li

  • June 18, 2026

  • 0 min

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Clinical Scorecard: Hepatic Metastasis of Mucinous Adenocarcinoma with Neuroendocrine Features and a Unique HER2 R678Q Mutation: A Case Study and Review of Existing Literature

At a Glance

CategoryDetail
Condition
Key MechanismsHER2 (ERBB2) R678Q mutation and neuroendocrine differentiation (source needed).
Target Population
Care Setting

Key Highlights

  • First reported case of MAC with neuroendocrine features harboring a HER2 R678Q mutation (source needed).
  • Patient received FOLFOX chemotherapy and trastuzumab based on HER2 status (source needed).
  • Tumor showed early resistance to treatment and continued progression (source needed).
  • Emphasizes the need for broad molecular testing in CUP diagnosis (source needed).
  • Highlights limited efficacy of HER2-targeted therapies in rare mutations (source needed).

Guideline-Based Recommendations

Diagnosis

  • Comprehensive diagnostic evaluation for CUP is essential (source needed).

Management

  • Consider broad molecular profiling to identify actionable mutations (source needed).

Monitoring & Follow-up

  • Monitor tumor markers and disease progression closely (source needed).

Risks

  • High risk of disease progression despite treatment in rare mutations (source needed).

Patient & Prescribing Data

50-year-old male with CUP and multiple metastases.

FOLFOX chemotherapy with trastuzumab was initiated based on HER2 mutation.

Clinical Best Practices

  • Integrate genomic testing into the diagnostic process for CUP (source needed).
  • Tailor treatment strategies based on identified molecular alterations (source needed).

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Original Source(s)

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