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Spindle cell/sclerosing rhabdomyosarcoma with DCTN1::ALK fusion: broadening the molecular spectrum with potential therapeutic implications

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Abstract

Spindle cell/sclerosing rbabdomyosarcoma (RMS) is a recently characterized variant of RMS with several distinct molecular subtypes. We describe an example occurring in the tongue of a 10-year-old boy with a novel DCTN1::ALK fusion. The tumor exhibited infiltrative growth and was comprised of fascicles and focally whorls of spindle cells with eosinophilic cytoplasm, in a collagenous or myxoid stroma. Moderate cytologic atypia, mitotic activity (2/10 HPFs), and perineural invasion were identified. The tumor cells expressed actin, desmin, MyoD1, myogenin, and ALK. An in-frame fusion between DCTN1 exon 26 and ALK exon 20 was detected by RNA sequencing, which was confirmed by split reads and supported by FISH studies. The tumor showed an indolent behavior with local recurrence 3 years after excision. This study broadens the molecular spectrum of spindle cell/sclerosing RMS and this molecular aberration may represent a potential therapeutic target for unresectable or disseminated disease.

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Author information

Authors and Affiliations

  1. Department of Pathology, United Christian Hospital, Kwun Tong, Hong Kong

    C. K. Fung

  2. Department of Cellular and Anatomical Pathology, Chinese University of Hong Kong, Shatin, Hong Kong

    Chit Chow & K. F. To

  3. Department of Pathology, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong

    W. K. Chan & Eric W. K. Choi

  4. Department of Pathology, Queen Elizabeth Hospital, Hong Kong, SAR, China

    John K. C. Chan & Wah Cheuk

Authors
  1. C. K. Fung
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  2. Chit Chow
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  3. W. K. Chan
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  4. Eric W. K. Choi
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  5. K. F. To
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  6. John K. C. Chan
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  7. Wah Cheuk
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Contributions

Fung CK, Chan WK, To KF, Chan JKC, and Cheuk W conceived the project and participated in writing. Chow C participated in molecular analysis and interpretation and writing. Choi EWK collected the data and participated in writing.

The present work is a retrospective study that fulfills the ethical requirement. Informed consent has been obtained from the patient.

Corresponding author

Correspondence to Wah Cheuk.

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The present work is a retrospective study that fulfills the ethical requirement.

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Informed consent has been obtained from the patient.

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The authors declare no competing interests.

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Fung, C.K., Chow, C., Chan, W.K. et al. Spindle cell/sclerosing rhabdomyosarcoma with DCTN1::ALK fusion: broadening the molecular spectrum with potential therapeutic implications. Virchows Arch 480, 927–932 (2022). https://doi.org/10.1007/s00428-022-03305-8

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  • DOI: https://doi.org/10.1007/s00428-022-03305-8

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