Novel PTRH2::ALK Fusion in ALK-positive Histiocytosis Presenting as a Liver Abscess in an Infant: A Case Study
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By
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Qian Wan
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Hui Huang
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Zhongjin Xu
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Caihui Yuan
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Yangyang Ma
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Chongjun Wu
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April 29, 2026
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Clinical Scorecard: Novel PTRH2::ALK Fusion in ALK-positive Histiocytosis Presenting as a Liver Abscess in an Infant: A Case Study
At a Glance
| Category | Detail |
|---|
| Condition | ALK-positive histiocytosis |
| Key Mechanisms | Proliferation of foamy histiocytes with ALK gene rearrangements |
| Target Population | Pediatric patients, particularly infants |
| Care Setting | Pediatric clinical settings |
Key Highlights
- Identified a novel PTRH2::ALK fusion gene
- Initial misdiagnosis as a liver abscess
- Effective treatment with ALK inhibitor crizotinib
- Requires molecular confirmation for diagnosis
- Clinical presentation includes fever, rash, and hepatic mass
Guideline-Based Recommendations
Diagnosis
- Pathological confirmation and molecular evidence of ALK rearrangement are essential.
Management
- ALK inhibitors, such as crizotinib, are recommended for unresectable or disseminated cases.
Monitoring & Follow-up
- Regular follow-up to assess treatment response and disease progression.
Risks
- Risk of misdiagnosis as infectious diseases like bacterial liver abscess.
Patient & Prescribing Data
Infants with ALK-positive histiocytosis
Crizotinib showed considerable efficacy in managing the condition.
Clinical Best Practices
- Consider ALK-positive histiocytosis in pediatric patients with atypical fever and rash.
- Utilize molecular testing for accurate diagnosis.
- Monitor for systemic involvement and response to therapy.
References
