Neuroblastoma associated with beckwith-wiedemann syndrome

BackgroundMacrosomia and hypertrophic cardiomyopathy are two features often associated in neonates of diabetic mothers. We report the cases of three patients with severe macrosomia and critical hypertrophic cardiomyopathy without severely unbalanced maternal diabetes. Only three patients with those two features and no uncontrolled maternal diabetes have been previously reported.Case presentationThe first patient was a 39-week-old girl, the second patient was a 39-week-old girl, and the third patient was a 41-week-old boy. The two French girls and the French boy had severe macrosomia and hypertrophic cardiomyopathy, leading to the death of the boy. The outcome of the two girls was favorable, with a standardization of growth curves and ventricular hypertrophy. Their mothers presented with high body mass index but no severe documented maternal diabetes; glycemic imbalance was only suspected on postnatal analyses. There was no hydramnios during pregnancy and no other environmental factor, especially toxic exposure. Their parents are from Mayotte, Guadeloupe, and Guinea-Conakry. The usual genetics causes, Beckwith–Wiedemann syndrome, and chromosomal copy number variation, were also excluded.ConclusionsThis report suggests the implication of other factors in addition to glycemic disorders, including genetic factors, in the occurrence of macrosomia and severe hypertrophic cardiomyopathy in neonates. These three original observations indicate that gynecologists and neonatologists should pay attention to neonates from mothers with a high body mass index and when maternal diabetes is not documented.Electronic supplementary materialThe online version of this article (doi:10.1186/s13256-017-1231-5) contains supplementary material, which is available to authorized users.

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“…Cardiomyopathy has been rarely reported in BWS [14, 15], but molecular analysis ruled out this hypothesis in Patients 2 and 3.…”

Section: Discussionmentioning

confidence: 99%

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series

et al. 2017

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“…The tumor spontaneously regresses without treatment in approximately 50% of cases, as recently reported by the German Group. [13][14][15] At this age, the I 123 meta-iodo-benzylguanidine scan is often negative, most likely due to the different uptake of meta-iodo-benzylguanidine in the newborn, 16 and urinary catecholamine levels are elevated in only about 50% of cases. Both of these characteristics were present in our patient.…”

Section: Discussionmentioning

confidence: 99%

Simultaneous Occurrence of Pancreatoblastoma and Neuroblastoma in a Newborn With Beckwith-Wiedemann Syndrome

Sorrentino

Conte

Nozza

et al. 2010

Journal of Pediatric Hematology/Oncology

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Beckwith-Wiedemann syndrome is associated with an increased risk of tumors in the pediatric age. We report the case of a newborn with Beckwith-Wiedemann syndrome presenting the simultaneous occurrence of a cystic pancreatoblastoma and an adrenal neuroblastoma. Surgery was required to treat the pancreatoblastoma, and a "wait and see" policy was adopted for the neuroblastoma, which spontaneously regressed within a few months.

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“…However, it is not clear how and when the mutations occur, or whether these mutations occur in specific clones (e.g., CSCs) or enhance clonal selection and enrichment. In addition to the genetic causes, other factors, including manifestation of other neurocristopathies such as Hirshsprung's disease [38,39] , Klippel-Feil syndrome, Waardenburg's syndrome [40] , Ondine's curse [39] , Beckwith-Weidemann syndrome [41] , Cushing's syndrome [42,43] , fetal alcohol syndrome [44][45][46] , fetal hydantoin syndrome caused due to intake of anti-seizure drug phenylhydantoin [47,48] , and exposure to products causing high blood pressure, sweating, headache, and abnormal heartbeats in mothers, have been associated with increased susceptibility to NB.…”

Section: Relevance Of Stem Cells In Nb Genesismentioning

confidence: 99%

Cancer stem cells in neuroblastoma therapy resistance

Aravindan¹,

Jain²,

Somasundaram³

et al. 2019

CDR

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Neuroblastoma (NB) is the most common cancer of infancy and accounts for nearly one tenth of pediatric cancer deaths. This mortality rate has been attributed to the > 50% frequency of relapse despite intensive, multimodal clinical therapy in patients with progressive NB. Given the disease's heterogeneity and developed resistance, attaining a cure after relapse of progressive NB is highly challenging. A rapid decrease in the timeline between successive recurrences is likely due to the ongoing acquisition of genetic rearrangements in undifferentiated NB-cancer stem cells (CSCs). In this review, we present the current understanding of NB-CSCs, their intrinsic role in tumorigenesis, their function in disease progression, and their influence on acquired therapy resistance and tumor evolution. In particular, this review focus on the intrinsic involvement of stem cells and signaling in the genesis of NB, the function of pre-existing CSCs in NB progression and therapy response, the formation and influence of induced CSCs (iCSCs) in drug resistance and tumor evolution, and the development of a CSC-targeted therapeutic approach.

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Neuroblastoma associated with beckwith-wiedemann syndrome

Cited by 51 publications

References 6 publications

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series

Simultaneous Occurrence of Pancreatoblastoma and Neuroblastoma in a Newborn With Beckwith-Wiedemann Syndrome

Cancer stem cells in neuroblastoma therapy resistance

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