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Oncogenic anaplastic lymphoma kinase (ALK) mutation in neuroblastomas and other pediatric tumors

Mi Jung Kwon1, Yoon-La Choi, Ki Woong Sung

  • 1Department of Pathology, Hallym University Sacred Heart Hospital, Anyang, Republic of Korea.

Pathology, Research and Practice
|September 24, 2011
PubMed

Insights

Anaplastic lymphoma kinase (ALK) mutations were found in 3.7% of neuroblastoma cases. These findings suggest ALK inhibitors may offer a targeted therapy for a subset of pediatric neuroblastoma patients.

Area of Science:

  • Oncology
  • Genetics
  • Pediatric Medicine

Background:

  • Neuroblastoma (NB) is a common and aggressive pediatric cancer.
  • Advanced-stage NB often resists conventional treatments.
  • Targeting biological pathways, like those involving Anaplastic Lymphoma Kinase (ALK), is a new therapeutic approach.

Purpose of the Study:

  • To investigate the prevalence of ALK mutations in neuroblastoma.
  • To determine if ALK mutations are present in other pediatric tumors.
  • To explore the potential of ALK inhibitors for NB treatment.

Main Methods:

  • Examined 54 neuroblastoma specimens for ALK mutations (F1174C, R1275Q).
  • Analyzed specimens from pre-treatment and post-treatment cases.
  • Screened various other pediatric tumors for ALK mutations.

Main Results:

  • Detected ALK mutations in 2 (3.7%) of 54 neuroblastoma cases.
  • Both positive cases were advanced-stage, poorly differentiated NB.
  • No ALK mutations were found in other pediatric tumors analyzed.

Conclusions:

  • ALK mutations, though infrequent in this cohort, are present in a subset of neuroblastoma.
  • The identified mutations are known hotspot mutations.
  • ALK inhibitors may represent a potential targeted therapy for neuroblastoma patients with specific ALK mutations.

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