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

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Title: Pediatric Low-Grade Spindle Cell Neoplasm With A Novel AK5::ALK Fusion: A Case Report.
Authors: Kikawa, Caroline, Ketterl, Tyler G., Liu PhD, Yajuan J., Reed, Robyn C., Dahl, John P.
Source: Annals of Otology, Rhinology & Laryngology. Apr2023, Vol. 132 Issue 4, p470-475. 6p.
Subjects: Patient aftercare, Genetics, Magnetic resonance imaging, Soft tissue tumors, Anaplastic lymphoma kinase, Cells, Genes, Sarcoma, Children
Abstract: 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. [ABSTRACT FROM AUTHOR]
Copyright of Annals of Otology, Rhinology & Laryngology is the property of Sage Publications Inc. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Pediatric Low-Grade Spindle Cell Neoplasm With A Novel AK5::ALK Fusion: A Case Report.
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  Data: <searchLink fieldCode="AR" term="%22Kikawa%2C+Caroline%22">Kikawa, Caroline</searchLink><br /><searchLink fieldCode="AR" term="%22Ketterl%2C+Tyler+G%2E%22">Ketterl, Tyler G.</searchLink><br /><searchLink fieldCode="AR" term="%22Liu+PhD%2C+Yajuan+J%2E%22">Liu PhD, Yajuan J.</searchLink><br /><searchLink fieldCode="AR" term="%22Reed%2C+Robyn+C%2E%22">Reed, Robyn C.</searchLink><br /><searchLink fieldCode="AR" term="%22Dahl%2C+John+P%2E%22">Dahl, John P.</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Annals+of+Otology%2C+Rhinology+%26+Laryngology%22">Annals of Otology, Rhinology & Laryngology</searchLink>. Apr2023, Vol. 132 Issue 4, p470-475. 6p.
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  Data: <searchLink fieldCode="DE" term="%22Patient+aftercare%22">Patient aftercare</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Magnetic+resonance+imaging%22">Magnetic resonance imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Soft+tissue+tumors%22">Soft tissue tumors</searchLink><br /><searchLink fieldCode="DE" term="%22Anaplastic+lymphoma+kinase%22">Anaplastic lymphoma kinase</searchLink><br /><searchLink fieldCode="DE" term="%22Cells%22">Cells</searchLink><br /><searchLink fieldCode="DE" term="%22Genes%22">Genes</searchLink><br /><searchLink fieldCode="DE" term="%22Sarcoma%22">Sarcoma</searchLink><br /><searchLink fieldCode="DE" term="%22Children%22">Children</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: 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. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Annals of Otology, Rhinology & Laryngology is the property of Sage Publications Inc. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1177/00034894221092207
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      – SubjectFull: Patient aftercare
        Type: general
      – SubjectFull: Genetics
        Type: general
      – SubjectFull: Magnetic resonance imaging
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      – SubjectFull: Genes
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      – SubjectFull: Sarcoma
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      – SubjectFull: Children
        Type: general
    Titles:
      – TitleFull: Pediatric Low-Grade Spindle Cell Neoplasm With A Novel AK5::ALK Fusion: A Case Report.
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            NameFull: Ketterl, Tyler G.
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              Text: Apr2023
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              Y: 2023
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