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Keratin-Positive Giant Cell-Rich Tumor in Early Infancy: Metastatic Presentation and Imatinib Response
Cem Çanakçi1, Sonay İncesoy Özdemir1, Handan Dinçaslan1
1Departments of Pediatric Oncology.
Insights
Pediatric Keratin-positive giant cell-rich tumor (KPGCT) is rare, especially with metastasis. Imatinib showed effectiveness in an infant with advanced KPGCT, even without a common genetic fusion.
Area of Science:
- Oncology
- Pediatric Oncology
- Bone and Soft Tissue Neoplasms
Background:
- Keratin-positive giant cell-rich tumor (KPGCT) is an exceptionally rare neoplasm.
- Pediatric and metastatic presentations of KPGCT are exceedingly uncommon.
Purpose of the Study:
- To report a rare case of pediatric KPGCT with multifocal metastatic disease.
- To evaluate the efficacy of imatinib in an infant with advanced KPGCT.
Main Methods:
- Histopathologic confirmation of KPGCT in a 1.5-month-old male infant with widespread metastases.
- Molecular testing for HMGA2 rearrangement.
- Treatment with imatinib and assessment of clinical response and toxicity.
Main Results:
- The infant presented with multifocal metastatic disease involving skull, adrenal glands, vertebrae, mandible, soft tissue, and long bones.
- Histopathology confirmed KPGCT; molecular testing was negative for HMGA2 rearrangement.
- Imatinib treatment led to significant lesion regression and clinical improvement with no observed toxicity.
Conclusions:
- This case expands the known clinical spectrum of pediatric KPGCT.
- Imatinib may represent a viable treatment option for infants with advanced KPGCT, including those lacking the HMGA2::NCOR2 fusion.
Background:
Keratin-positive giant cell-rich tumor (KPGCT) is a rare bone and soft tissue neoplasm, with pediatric and metastatic cases being exceedingly uncommon.
Observation:
We report a 1.5-month-old male infant presenting with multifocal metastatic disease involving the skull, adrenal glands, vertebrae, mandible, soft tissue, and long bones. Histopathologic evaluation confirmed KPGCT, molecular testing was negative for HMGA2 rearrangement. Treatment with imatinib resulted in marked regression of lesions and clinical improvement without toxicity.
Conclusions:
This case expands the clinical spectrum of pediatric KPGCT and suggests that imatinib may be an effective treatment option in infants with advanced disease, even canonical HMGA2::NCOR2 fusion absent.
