Case Report: Cytokeratin-positive interstitial reticulum cell tumor with HLA loss of heterozygosity

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Cytokeratin-positive interstitial reticulum cell tumor (CIRC) is a rare neoplasm with limited understanding of its clinicopathological features.
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This case study reports the first identification of human leukocyte antigen loss of heterozygosity (HLA LOH) in a CIRC tumor.
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Whole-exome sequencing revealed 30 single-nucleotide variants and 7 indels, indicating chromosomal instability in the tumor.
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HLA LOH may represent an immune evasion mechanism, potentially affecting the efficacy of immune checkpoint inhibitors.
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The findings underscore the importance of comprehensive genomic profiling for guiding individualized treatment in rare tumors.

Frontiers In Immunology

by Wen Liu, Yan Zhang, Yuqing Wei, Yinan Hu, Xinmiao Zhang, Jingli Xue, Peifeng Li
June 2, 2026

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