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Updated: Jun 27, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Case report: A rare DLST mutation in patient with metastatic pheochromocytoma: clinical implications and management
Chang Li1, Liang Han2, Yuming Song1
1Department of VIP Unit, China-Japan Union Hospital of Jilin University, Changchun, Jilin, China.
Background:
Pheochromocytoma is one of the most hereditary human tumors with at least 20 susceptible genes undergoing germline and somatic mutations, and other mutations less than 1% -2%. In recent years, other rare mutations have gradually been discovered to be possibly related to the pathogenesis and metastasis of pheochromocytoma. Most patients with pheochromocytoma experience common symptoms like headaches, palpitations, and sweating, while some may have less common symptoms. The diversity of symptoms, genetic mutations, and limited treatment options make management challenging.
Case Presentation:
A 53-year-old woman was hospitalized after experiencing episodic epigastric pain for one month. A mass was found in her right adrenal gland and she underwent robot-assisted laparoscopic surgery, revealing a pheochromocytoma. At the 16-month follow-up, multiple metastatic lesions consistent with metastatic pheochromocytoma were found. A germline mutation in the dihydrolipoamide succinyltransferase (DLST) gene (c.330 + 14A>G) was detected, and despite trying chemotherapy and adjuvant therapy, the patient had a limited response with an overall survival of 27 months.
Conclusions:
DLST mutation is one of the rare pheochromocytoma-related mutated genes, and genetic sequencing is crucial for effective clinical management.
Insights
A rare dihydrolipoamide succinyltransferase (DLST) gene mutation was identified in a patient with metastatic pheochromocytoma. Genetic sequencing is vital for managing this hereditary cancer due to diverse symptoms and limited treatments.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Pheochromocytoma is a highly hereditary tumor with numerous associated genes.
- Management is challenging due to varied symptoms, genetic mutations, and limited therapeutic options.
- Rare mutations are increasingly linked to pheochromocytoma pathogenesis and metastasis.
Observation:
- A 53-year-old woman presented with epigastric pain and was diagnosed with right adrenal pheochromocytoma.
- The patient developed metastatic lesions 16 months post-surgery.
- A germline mutation in the dihydrolipoamide succinyltransferase (DLST) gene was identified.
Findings:
- The patient exhibited a limited response to chemotherapy and adjuvant therapy.
- Overall survival was 27 months.
- DLST mutation is a rare genetic factor in pheochromocytoma.
Implications:
- Genetic sequencing is essential for effective clinical management of pheochromocytoma.
- Understanding rare mutations like DLST can improve diagnosis and treatment strategies.
- Further research into genetic factors is needed for hereditary tumors.
