Novel PTRH2::ALK Fusion in ALK-positive Histiocytosis Presenting as a Liver Abscess in an Infant: A Case Study - Takeaways - MDSpire

Novel PTRH2::ALK Fusion in ALK-positive Histiocytosis Presenting as a Liver Abscess in an Infant: A Case Study

  • By

  • Qian Wan

  • Hui Huang

  • Zhongjin Xu

  • Caihui Yuan

  • Yangyang Ma

  • Chongjun Wu

  • April 29, 2026

  • 0 min

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  • 1

    ALK-positive histiocytosis is a rare pediatric neoplasm characterized by ALK gene rearrangements and histiocyte proliferation.

  • 2

    An 8-month-old infant was misdiagnosed with a liver abscess, presenting with fever, anemia, and chronic rashes.

  • 3

    Histopathological examination confirmed ALK-positive histiocytosis through the identification of a novel PTRH2::ALK fusion.

  • 4

    Immunohistochemical analysis showed positivity for ALK, CD68, and S100, aiding in the diagnosis of the condition.

  • 5

    The patient responded well to treatment with the ALK inhibitor crizotinib, remaining clinically stable during follow-up.

Original Source(s)

Novel PTRH2::ALK Fusion in ALK-positive Histiocytosis Presenting as a Liver Abscess in an Infant: A Case Study

  • by Qian Wan, Hui Huang, Zhongjin Xu, Caihui Yuan, Yangyang Ma, Chongjun Wu

  • April 29, 2026

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