What question did this study set out to answer?

This case report aims to present a rare instance of ALK-positive histiocytosis in an infant that was misdiagnosed as a liver abscess and highlight a novel fusion gene.

May 4, 2026SHILAP Revista de lepidopterologíaOpen Access

Case Report: ALK-positive histiocytosis with a novel PTRH2::ALK fusion masquerading as a liver abscess in an infant

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Authors

QWQian Wan HHH Huang ZXZhongjin Xu

Discussion

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Overview

Case report demonstrates ALK-positive histiocytosis diagnosed in an infant, revealing a novel PTRH2::ALK fusion gene, implying critical diagnostic insights.

Key Points

This case report aims to present a rare instance of ALK-positive histiocytosis in an infant that was misdiagnosed as a liver abscess and highlight a novel fusion gene.
Histopathological examination of biopsy specimens from skin rashes
Fluorescence in situ hybridization for ALK rearrangement
Next-generation sequencing to identify the PTRH2::ALK fusion.
Histopathological findings included a proliferation of histiocytes, multinucleated giant cells, and positive immunohistochemical markers for ALK and S100.
Next-generation sequencing identified a novel PTRH2::ALK fusion in the patient.
PET-CT revealed widespread lesions consistent with ALK-positive histiocytosis.

Cite This Study

Wan et al. (2026) studied this question.

synapsesocial.com/papers/69f836aa3ed186a739980e56 https://doi.org/10.3389/fimmu.2026.1722061

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May 4, 2026SHILAP Revista de lepidopterologíaOpen Access

Case Report: ALK-positive histiocytosis with a novel PTRH2::ALK fusion masquerading as a liver abscess in an infant

View Full Paper

Ask AI

Bookmark

Authors

QWQian Wan HHH Huang ZXZhongjin Xu

Discussion

Member takes

Overview

Case report demonstrates ALK-positive histiocytosis diagnosed in an infant, revealing a novel PTRH2::ALK fusion gene, implying critical diagnostic insights.

Key Points

This case report aims to present a rare instance of ALK-positive histiocytosis in an infant that was misdiagnosed as a liver abscess and highlight a novel fusion gene.
Histopathological examination of biopsy specimens from skin rashes
Fluorescence in situ hybridization for ALK rearrangement
Next-generation sequencing to identify the PTRH2::ALK fusion.
Histopathological findings included a proliferation of histiocytes, multinucleated giant cells, and positive immunohistochemical markers for ALK and S100.
Next-generation sequencing identified a novel PTRH2::ALK fusion in the patient.
PET-CT revealed widespread lesions consistent with ALK-positive histiocytosis.

Cite This Study

Wan et al. (2026) studied this question.

synapsesocial.com/papers/69f836aa3ed186a739980e56 https://doi.org/10.3389/fimmu.2026.1722061

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