Neuroblastoma in monozygotic twins with distinct presentation pathology and outcome: Is it familial or <i>in utero</i> metastasis

Abu‐Arja, Rolla; Hashem, Hasan; El-Sheikh, Ayman; Abusin, Ghada

doi:10.1002/pbc.24906

Cited by 4 publications

(3 citation statements)

References 7 publications

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“…Furthermore, fetoplacental metastasis is considered when monozygotic monochorionic twins have similar tumour pathology, but only one with identifiable primary tumour, presenting spontaneously, or shortly after. 1 , 2 A similar mechanism was postulated for concordance of leukaemia in twins. 8 , 9 Several molecular markers are considered evidence for common clonality and common origin of tumourigenesis.…”

Section: Discussionmentioning

confidence: 69%

“…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: Discussionmentioning

confidence: 69%

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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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“…Therefore, we thought that the tumor of F2 is not metastatic, because the metastatic focus should usually be more invasive. Moreover, these two tumors have completely different Shimada histology ( Table 1 ), and the diagnosis age of F2 and her sister was less than 12 months ( 18 ). As reported, genetic factors predominate in neuroblastoma diagnosed in newborns and infants ( 19 ), so we believed that F2 was a familial neuroblastoma without a primary site.…”

Section: Case Descriptionmentioning

confidence: 99%

Single-cell transcriptome sequencing reveals tumor heterogeneity in family neuroblastoma

Zhang,

Ma,

Liu

et al. 2023

Front. Immunol.

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Neuroblastoma(NB) is the most common extracranial solid tumor in childhood, and it is now believed that some patients with NB have an underlying genetic susceptibility, which may be one of the reasons for the multiplicity of NB patients within a family line. Even within the same family, the samples show great variation and can present as ganglioneuroblastoma or even benign ganglioneuroma. The genomics of NB is still unclear and more in-depth studies are needed to reveal its key components. We first performed single-cell RNA sequencing(sc-RNAseq) analysis on clinical specimens of two family neuroblastoma(FNB) and four sporadic NB cases. A complete transcriptional profile of FNB was constructed from 18,394 cells from FNB, and we found that SDHD may be genetically associated with FNB and identified a prognostic related CAF subtype in FNB: Fib-4. Single-cell flux estimation analysis (scFEA) results showed that malignant cells were associated with arginine spermine, oxaloacetate and hypoxanthine, and that malignant cells metabolize lactate at lower levels than T cells. Our study provides new resources and ideas for the development of the genomics of family NB, and the mechanisms of cell-to-cell interactions and communication and the metabolic landscape will provide new therapeutic targets.

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Neuroblastic Tumors of Adrenal Gland

Nosé¹

2018

Diagnostic Pathology: Endocrine

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Neuroblastoma in monozygotic twins with distinct presentation pathology and outcome: Is it familial or in utero metastasis

Cited by 4 publications

References 7 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

Single-cell transcriptome sequencing reveals tumor heterogeneity in family neuroblastoma

Neuroblastic Tumors of Adrenal Gland

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