Childhood Cancer Genomics (PDQ®)–Health Professional Version

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Changes to this Summary (08/28/2018)

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 to the Acute Lymphoblastic Leukemia (ALL) subsection to state that the Associazione Italiana di Ematologia e Oncologia Pediatrica (AIEOP)–Berlin-Frankfurt-Münster (BFM) group reported that IKZF1deletions were significant adverse prognostic factors only in B-cell ALL patients with high end-induction minimal residual disease and in whom co-occurrence of deletions of CDKN2A, CDKN2B, PAX5, or PAR1 were identified (cited Stanulla et al. as reference 113).

The T-cell ALL cytogenetics/genomics subsection of the Acute Lymphoblastic Leukemia (ALL) subsection was extensively revised.

Added text to the Acute Myeloid Leukemia (AML) subsection to state that for patients who have FLT3-ITD, the presence of either WT1mutations or NUP98-NSD1 fusions is associated with poorer outcome than for patients who have FLT3-ITD without these alterations. Conversely, when FLT3-ITD is accompanied by NPM1 mutations, the outcome is relatively favorable and is similar to that of pediatric AML cases without FLT3-ITD (cited Bolouri et al. as reference 160).

Added text to the Acute Myeloid Leukemia (AML) subsection to state that some of the FLT3 point mutations appear to be specific to pediatric patients.

Non-Hodgkin Lymphoma

Added text to the Burkitt and Burkitt-like lymphoma subsection to state that while MYCtranslocations are present in all Burkitt lymphoma, cooperating genomic alterations appear to be required for lymphoma development. Recurring mutations have been identified in Burkitt lymphoma in pediatric and adult cases. The clinical significance of these mutations for pediatric Burkitt lymphoma remains to be elucidated.

Added text to the Burkitt and Burkitt-like lymphoma subsection about the recurring mutations that have been identified in Burkitt lymphoma in pediatric and adult cases, including TCF3, ID3, TP53, CCND3, and MYC (cited Schmitz et al., Richter et al., Havelange et al., Rohde et al., and Chakraborty et al. as references 6, 7, 8, 9, and 10, respectively).

Added text to the Diffuse large B-cell lymphoma subsection to state that large B-cell lymphoma with IRF4 rearrangement was added as a distinct entity in the 2016 revision of the World Health Organization classification of lymphoid neoplasms (cited Swerdlow et al. as reference 22).

The Primary mediastinal B-cell lymphoma subsection was extensively revised.

Added Table 2 to the Anaplastic Large Cell Lymphoma subsection about variant ALKtranslocations and the associated partner chromosome locations and frequencies in anaplastic large cell lymphoma (cited Tsuyama et al. as reference 39).

Added Pediatric-type Follicular Lymphoma as a new subsection.

Central Nervous System Tumors

Revised text in the Anaplastic astrocytomas and glioblastomas subsection to state that pediatric patients with IDH1 mutations show a more favorable prognosis than do other pediatric glioblastoma multiforme patients; 5-year overall survival (OS) rates exceed 60% for pediatric patients with IDH1 mutations, compared with 5-year OS rates of less than 20% for patients with wild-type IDH1.

Added text to the Medulloblastomas subsection to state that a report that used DNA methylation arrays identified two subtypes of sonic hedgehog medulloblastoma in young children. One of the subtypes contained all of the cases with SMO mutations, and it was associated with a favorable prognosis. The other subtype had most of the SUFU mutations, and it was associated with a much lower progression-free survival rate. PTCH1 mutations were present in both subtypes (cited Robinson et al. as reference 88).

Neuroblastoma

Added text to the Neuroblastoma section to state that an international collaboration studied 556 patients with high-risk neuroblastoma and identified two types of segmental copy number aberrations that are associated with extremely poor outcome. Distal 6q losses were found in 6% of patients and were associated with a 10-year survival of only 3.4%; amplifications of regions not encompassing the MYCN locus, in addition to MYCNamplification, were detected in 18% of the patients and were associated with a 10-year survival of 5.8% (cited Depuydt et al. as reference 9).

Retinoblastoma

Added text to the Retinoblastoma section to state that the functional status of the retinoblastoma protein (pRb) is inferred to be inactive in retinoblastoma with MYCNamplification. This suggests that inactivation of RB1 by mutation or inactive pRb is a requirement for the development of retinoblastoma, independent of MYCN amplification (cited Ewens et al. as reference 7).

Melanoma

Revised Table 5 in the Melanoma section to include additional affected genes for spitzoid melanoma and Spitz nevus 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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