Pediatric Low-Grade Spindle Cell Neoplasm With A Novel AK5::ALK Fusion: A Case Report

Ann Otol Rhinol Laryngol. 2023 Apr;132(4):470-475. doi: 10.1177/00034894221092207. Epub 2022 May 2.


Objectives: Spindle cell neoplasms (SCN) share a single commonality of spindle-shaped cells on histopathology but are diverse in etiology. Expanding our collective knowledge of these neoplasms could further research in targeted therapies. We present a case of pediatric cutaneous SCN with a novel etiology, and the methods used to identify its origination.

Case presentation and results: A 1.5-year-old child presented with a 7-month history of a rapidly enlarging, erythematous, non-painful scalp mass without ulceration or bleeding. The child underwent ultrasound and magnetic resonance imaging, revealing a 2.9 × 3 × 2 cm vascular mass without intracranial connections. The mass was successfully resected at surgery. Subsequent histopathologic and genetic testing indicated a SCN harboring a previously undescribed gene rearrangement between adenylate kinase 5 (AK5) and anaplastic lymphoma kinase (ALK). The patient received close clinical follow-up and at 6 months post-surgery had no recurrent disease.

Conclusions: ALK rearrangements are common amongst many tumor types, but to our knowledge, AK5::ALK rearrangement has never been reported in SCN. Considering the rapid development of targeted clinical therapies, including those targeting ALK activity, this finding could be significant in the treatment of future patients with similar clinicopathologic and genetic presentation.

Keywords: ALK gene rearrangement partner; anaplastic lymphoma kinase; protein-tyrosine kinases; spindle cell neoplasms.

Publication types

  • Case Reports

MeSH terms

  • Adenylate Kinase
  • Anaplastic Lymphoma Kinase
  • Humans
  • Infant
  • Lung Neoplasms*
  • Neoplasms*
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptor Protein-Tyrosine Kinases / metabolism


  • Adenylate Kinase
  • adenylate kinase 5
  • Anaplastic Lymphoma Kinase
  • Receptor Protein-Tyrosine Kinases