Radiology Case Reports (Feb 2024)

SMARCA4-deficient tumors in the adrenal gland and small intestines: A rare case report

  • Akira Kambe, MD,
  • Yayoi Yamamoto, MD, PhD,
  • Chie Hasegawa, MD,
  • Akira Kakiuchi, MD,
  • Daichi Kojima, MD,
  • Ayako Hino, MD, PhD,
  • Ayumi Horikawa, MD, PhD,
  • Tsunehiro Doiuchi, MD,
  • Hiroaki Kurihara, MD, PhD

Journal volume & issue
Vol. 19, no. 2
pp. 794 – 797

Abstract

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Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UTs) are rare undifferentiated thoracic malignancies with poor prognosis. They predominantly affect young men who are heavy smokers. Recently, the category of SMARCA4-deficiency–related malignancy has been expanded to include extra-thoracic sites, such as the paranasal sinuses, gastrointestinal tract, ovary, and uterus. We report a rare case of SMARCA4-deficient tumors in the adrenal gland and small intestines. SMARCA4-deficient tumors should be included in the differential diagnosis when multiple large masses with heterogeneous contrast effect and strong accumulation are seen in cancers of unknown primary on 18F-fluorodeoxyglucose (FDG) positron emission tomography with computed tomography (PET/CT).

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