Keratin-Positive Giant Cell-Rich Tumor in Early Infancy: Metastatic Presentation and Imatinib Response

Çanakçi C., İncesoy Özdemir S., Dinçaslan H., Berber Hamamci M., Ekin Dağ N., Maharramova V., ...Daha Fazla

Journal of Pediatric Hematology/Oncology, cilt.Publish Ahead of Print, 2026 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: Publish Ahead of Print
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1097/mph.0000000000003177
  • Dergi Adı: Journal of Pediatric Hematology/Oncology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Anahtar Kelimeler: HMGA2 rearrangement negative, imatinib, infant case report, keratin-positive giant cell-rich tumor, metastatic soft tissue tumor, pediatric tumor, targeted therapy
  • Ankara Üniversitesi Adresli: Evet

Özet

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.