Acute lymphoblastic leukemia in a nine-year-old girl with isodicentric chromosome 15 syndrome

Antonucci, Roberto; Vacca, Nadia; Ghisu, Elisa; Acquaviva, Gloria; Cosmi, Carlo; Marinaro, Anna Maria; Locci, Cristian; Fozza, Claudio

doi:10.1016/j.cancergen.2019.05.001

Cited by 3 publications

(4 citation statements)

References 7 publications

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“…Alterations in several oncogenes and other cancer-related genes within this region have been implicated in various forms of human neoplasia such as MYO5A, MAP2K1, SMAD3, PKM, PML, NTRK3, POLG , and IDH2 ; however, to our knowledge, no copy number gains of these genes have been heretofore associated with melanocytic lesion pathogenesis 25,26. Of note, a case report of a child born with a rare constitutional isodicentric chromosome 15 (resulting in 3 copies of 15q) developed acute lymphoblastic leukemia at 9 years of age, suggesting an oncogenic potential of a 15q gain 27…”

Section: Discussionmentioning

confidence: 88%

“…25,26 Of note, a case report of a child born with a rare constitutional isodicentric chromosome 15 (resulting in 3 copies of 15q) developed acute lymphoblastic leukemia at 9 years of age, suggesting an oncogenic potential of a 15q gain. 27 In this series, we have defined a new variant of nevus characterized by chromosome 15q gain in association with particular histopathologic findings. Dermal sclerosis at the deep aspect of the lesion was identified as the most salient and characteristic feature.…”

Section: Discussionmentioning

confidence: 99%

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Expanding Our Understanding of Nevogenesis

Olson

Lefferts

LeBlanc

et al. 2021

American Journal of Surgical Pathology

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As the landscape of melanomagenesis becomes better refined through increasingly detailed schema grounded in distinct clinicopathologic-molecular pathways, the stepwise process and variations of molecular nevogenesis have largely remained elusive. Herein, we present a series of 8 melanocytic nevi in patients ranging from 40 to 74 years of age (median: 59.5 y), which demonstrated a reproducible constellation of histomorphologic features as well as a copy number gain of the long arm of chromosome 15 (15q). The most characteristic histologic feature was sclerosis with maturation at the base of the lesion. All cases demonstrated a dome-shaped configuration and epidermal acanthosis with hyperpigmentation. However, the cytologic features ranged in their appearances from that of a banal nevus with ovoid nuclei, inconspicuous nucleoli, and minimal cytoplasm to enlarged, epithelioid forms with central nucleoli and abundant cytoplasm. No lesions showed staining with BRAF V600E or NRAS Q61R immunohistochemistry. Single-nucleotide polymorphism–based chromosome microarray analysis revealed a monoaberrant 15q gain in all cases. The histology was sufficiently distinctive in the initial 6 cases encountered to allow for prospective identification of 2 additional cases harboring a 15q gain. The clinical follow-up did not reveal recurrence in any case. Although adverse outcomes were not observed in our cohort, future studies are needed to more adequately characterize the clinical and biological behavior of these lesions.

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Section: Discussionmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Expanding Our Understanding of Nevogenesis

Olson

Lefferts

LeBlanc

et al. 2021

American Journal of Surgical Pathology

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“…One case reported ALL in a nine-year-old girl with isodicentric chromosome 15 syndrome, which is associated with early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizures. 9 A retrospective cohort study of 8000 Taiwanese children and adolescents showed that cancer occurred more frequently in pediatric patients with AD. The standardized incidence ratio's estimate is 1.94 (95% CI 1.18-2.99).…”

Section: Discussionmentioning

confidence: 99%

B-cell lymphoblastic leukemia in an adolescent with Dravet syndrome

Corey

Zobi

Hurtz³

et al. 2023

Preprint

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A 19 year-old adolescent girl with Dravet syndrome, characterized by complex seizure disorder and global developmental delay, presented with B-cell acute lymphoblastic leukemia. The genetic basis for her Dravet syndrome was a pathogenic variant in SCN1A, a sodium channel subunit. SCN1A is chiefly expressed in neuronal tissue, but bioinformatic analysis demonstrated its presence in B cell lineage. One estimate suggested that 10% of children with pediatric cancer have a germline predisposition involving proto-oncogenes or tumor suppressors. This number might be even higher should non-classical genetic variants, such as that encoding a sodium channel subunit, be considered.

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“…One case reported ALL in a 9-year-old female with isodicentric chromosome 15 syndrome, associated with early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizures. 7 A retrospective cohort study of 8000 Taiwanese children and adolescents showed that cancer occurred more frequently in pediatric patients with AD. The standardized incidence ratio's estimate is 1.94 (confidence interval [CI]: 1.18-2.99).…”

Section: E T T E R T O T H E E D I T O R B-cell Lymphoblastic Leukemi...mentioning

confidence: 99%