THORACIC SMARCA4-DEFICIENT UNDIFFERENTIATED TUMOUR-A CASE OF AN AGGRESSIVE NEOPLASM


TEOMAN G.

POLISH JOURNAL OF PATHOLOGY, cilt.76, sa.1, ss.70-74, 2025 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 76 Sayı: 1
  • Basım Tarihi: 2025
  • Doi Numarası: 10.5114/pjp.2025.149440
  • Dergi Adı: POLISH JOURNAL OF PATHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Directory of Open Access Journals
  • Sayfa Sayıları: ss.70-74
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

SMARCA4-deficient undifferentiated tumours exhibit undifferentiated and rhabdoid features. These highly aggressive neoplasms pose significant diagnostic challenges. They are characterised by an inactivating mutation of SMARCA4, leading to the loss of expression of Brahma-related gene 1 (BRG1). Despite their rareness and poor differentiation as thoracic tumours, it is important to recognise these tumours because, despite being highly aggressive, there are potential treatment options for the future, such as immunotherapy and SMARCA4-targeted therapies. This case presentation aims to raise awareness of this rare neoplasm when evaluating cases presenting undifferentiated morphology.