Childhood Cancer Genomics (PDQ®)–Health Professional Version

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Changes to this Summary (10/14/2016)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Leukemias

Added text about the fusions and mutations of core-binding factor acute myeloid leukemia (cited Duployez et al. as reference 133).

Added text to state that cases with CBFB-MYH11 and cases with RUNX1-RUNX1T1 have distinctive secondary mutations, and further study is needed to understand their prognostic significance in children with AML.

Revised text to state that studies have found that t(1;22)(p13;q13) is observed in 12% to 14% of children with acute megakaryoblastic leukemia (AMKL) and evaluable cytogenetics or molecular genetics (cited de Rooij et al. as reference 203).

Added text about the prognostic significance of the t(1;22) in pediatric AMKL, including results from three studies.

Added text to state that the NUP98/KDM5A lesion appears to confer a high risk of relapse and poor event-free survival and overall survival in pediatric AMKL.

Added Tokumasu et al. as reference 234.

Added text about CSF3R mutations in children with AML and in patients with severe congenital neutropenia (cited Maxson et al., Germeshausen et al., and Skokowa et al. as references 270, 271, and 272, respectively).

Sarcomas

Added Rhabdomyosarcoma as a new subsection.

Langerhans Cell Histiocytosis

Added text about a study that reported that BRAF mutation correlates with high-risk Langerhans cell histiocytosis, increased resistance to initial treatment, and higher relapse rate (cited Héritier et al. as reference 12).

Retinoblastoma

This section was comprehensively reviewed.

Editorial changes were made to this section.

Kidney Tumors

This section was comprehensively reviewed.

Melanoma

Revised text to state that each of the four cases with TERT promoter mutations experienced hematogenous metastases and died of their disease. Also added text to state that this finding supports the potential of TERT promoter mutations in predicting aggressive clinical behavior in children with spitzoid melanocytic neoplasms, but further study is needed to define the role of wild-type TERT promoter status in predicting clinical behavior in patients with primary site spitzoid tumors.

This summary is written and maintained by the PDQ Pediatric Treatment Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.

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