Concordance for neuroblastoma in monozygotic twins: case report and review of the literature

Tajiri, Tatsuro; Souzaki, Ryota; Kinoshita, Yoshiaki; Sakura, Toru; Koga, Yuhki; Suminoe, Aiko; Hara, Toshiro; Kohashi, Kenichi; Oda, Yoshinao; Masumoto, Kouji; Ohira, Miki; Nakagawara, Akira; Taguchi, Tomoaki

doi:10.1016/j.jpedsurg.2010.08.025

Cited by 13 publications

(13 citation statements)

References 11 publications

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“…[10][11][12] Previous aCGH analysis of NBL in a set of monozygotic twins revealed few differences between the primary adrenal versus liver tumours, supporting metastatic spread. 2 In our report, similar CNVs between both twin tumour samples also strongly support a common clonal origin.…”

Section: Discussionsupporting

confidence: 83%

“…Concordant or discordant occurrence of NBL in monozygotic twins has been described in the literature. 1,2 Fetoplacental metastasis has been postulated as a mechanism to account for concordant cases where one twin develops a primary adrenal tumour and the second twin manifests the disease without an identifiable primary site. 1,2 However, those tumours may originate and arise concomitantly due to the same genetic background shared by monozygotic twins, suggesting a predisposition to develop NBL.…”

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confidence: 99%

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Monozygotic twins with neuroblastoma MS have a similar molecular profile: a case of twin-to-twin metastasis

et al. 2019

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Fetoplacental neuroblastoma metastasis has been postulated as a mechanism accounting for concordant cases where one twin develops a primary tumour and the second twin manifests the disease without an identifiable primary site. These tumours may originate and spread concomitantly due to the same genetic background shared by monozygotic twins. This study investigated the molecular profile of stage MS neuroblastoma presenting concomitantly in monozygotic twins. Comparative genomic hybridisation (aCGH) was done for each of the twin liver tumour and peripheral blood samples at diagnosis. Comparison of copy-number variation (CNV) regions revealed a set of CNVs that were common to both tumour specimens and not apparent in the blood. The CNV signature in both twins’ tumours was highly similar, suggesting a common clonal origin. Additional findings included large deletion of chromosome 10 and amplification of chromosome 17. Notably, both liver samples had amplification of a short region involving DEIN (chromosome 4q34.1). Similar CNVs strongly support a common clonal origin and metastatic spread from one twin to the other. DEIN is a long-coding RNA (IncRNA) that has been found highly expressed in stage MS neuroblastoma and is likely involved in biological processes such as cell migration and metastasis.

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Section: Discussionsupporting

confidence: 83%

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confidence: 99%

Monozygotic twins with neuroblastoma MS have a similar molecular profile: a case of twin-to-twin metastasis

et al. 2019

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“…WGD was also observed in all samples of this twin pair. Previous studies have proposed an in utero twin-to-twin metastasis model for cancer development in monozygotic twins [ 30 , 31 ]. Our results provide further evidence supporting this model, as twin pair 1 shared mutations in SP4 (p.Thr728Thr) and ZNF304 (p.Glu228lys), and twin pair 2 shared mutations in EMR1 (p.Pro302Arg), SEMA6C (p.Leu348Arg) and PCDHGA4 (p.Asp536Tyr).…”

Section: Resultsmentioning

confidence: 99%

Genomic analysis-integrated whole-exome sequencing of neuroblastomas identifies genetic mutations in axon guidance pathway

Ohira

Zhou

et al. 2017

Oncotarget

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Neuroblastoma (NB) is a childhood solid malignant tumor originating from precursor cells of the peripheral nervous system. We have previously established a risk classification system based on DNA copy number profiles. To further explore the pathogenesis of NBs in distinct risk groups, we performed whole-exome sequencing analysis of 57 primary and 7 recurrent/metastatic tumors with unique chromosomal aberration profiles as categorized by our genomic sub-grouping system. Overall, a low frequency of somatic mutations was found. Besides ALK (4/64, 6.3%), SEMA6C, SLIT1 and NRAS, genes involved in the axon guidance pathway, were identified as recurrently mutated in 6 of 64 tumors (9.4%). Pathway enrichment analysis revealed enrichment of 25 mutated genes in the mitogen-activated protein kinase (MAPK) pathway, 13 genes in the Wnt pathway, and 12 genes in the axon guidance pathway. Genomic analyses demonstrated that primary and matched recurrent or metastatic tumors obtained from sporadic and monozygotic twin NBs were clonally related with variable extents of genetic heterogeneity. Monozygotic twin NBs displayed different evolutionary trajectories. These results indicate the involvement of the axon guidance, MAPK and Wnt pathways in NB and demonstrate genomic diversity with NB progression.

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“…Summary of the two cases is present in Table 1. Fetoplacental metastasis is the favored hypothesis in cases with shared tumor pathology and where one twin has an identifiable primary tumor and the recipient twin manifests the disease without a recognizable primary site [2]. The twins presented in this case report have similar tumor pathologies with slight variation in other characteristics.…”

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confidence: 75%

Report of Neuroblastoma in a Set of Monozygotic Monochorionic Twins

Afshar¹,

Golden²

2013

Pediatric Hematology and Oncology

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Concordance for neuroblastoma in monozygotic twins: case report and review of the literature

Cited by 13 publications

References 11 publications

Monozygotic twins with neuroblastoma MS have a similar molecular profile: a case of twin-to-twin metastasis

Monozygotic twins with neuroblastoma MS have a similar molecular profile: a case of twin-to-twin metastasis

Genomic analysis-integrated whole-exome sequencing of neuroblastomas identifies genetic mutations in axon guidance pathway

Report of Neuroblastoma in a Set of Monozygotic Monochorionic Twins

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