Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome

Zivot, Andrea; Edelman, Morris; Glick, Richard D.; Hong, Andrew R.; Fish, Jonathan D.

doi:10.1097/mph.0000000000001565

Cited by 11 publications

(12 citation statements)

References 19 publications

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“…7 Based on the existent treatment, the overall 5-year survival rate has increased from 30% to 70%; 8 however, the prognosis of terminal patients carrying unresectable tumors is still poor. 9 In existing research, familial adenomatous polyposis coli, 10,11 Beckwith-Wiedemann Syndrome, 12 Simpson-Golabi-Behmel syndrome 13 and trisomy 18 14,15 are associated with hepatoblastoma risk. This suggests that genetic factors play a critical role in the occurrence and progression of hepatoblastoma; therefore, the elucidation of the exact pathogenetic processes is vitally important.…”

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confidence: 99%

YTHDC1 gene polymorphisms and hepatoblastoma susceptibility in Chinese children: A seven‐center case–control study

Chen

et al. 2020

The Journal of Gene Medicine

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Background: Hepatoblastoma is a commonly occurring embryonal tumors in children. N6-methyladenosine (m 6 A) plays a critical role in gene expression, thus contributing to the occurrence and progression of cancer. RNA splicing is regulated by the nuclear m 6 A reader YTHDC1, yet the roles of YTHDC1 polymorphisms in hepatoblastoma remain unclear. Methods: We conducted a seven-center case-control study to determine the association between YTHDC1 gene polymorphisms (rs2293596 T>C, rs2293595 T>C and rs3813832 T>C) and hepatoblastoma susceptibility. We recruited 313 hepatoblastoma patients and 1446 healthy controls. Results: There was no significant association between all of these polymorphisms and hepatoblastoma susceptibility in single locus or combined analysis. Stratification analysis revealed that rs2293596 TC/CC genotype carriers had a higher risk of developing hepatoblastoma in the subgroup of clinical stages III + IV [adjusted odds ratio (OR) = 1.80, 95% confidence interval (CI) = 1.18-2.76, p = 0.007]. In addition, 3 risk genotype carriers are more likely to develop hepatoblastoma in the subgroup of clinical stages III + IV (adjusted OR = 1.80, 95% CI = 1.18-2.76, p = 0.007). Furthermore, false-positive probability analysis was used to notarize our findings. Haplotype analysis indicated that there was no significant association between inferred haplotypes of YTHDC1 gene based on observed genotypes and hepatoblastoma risk. Conclusions: In conclusion, our findings suggest that the rs2293596 T>C polymorphism may contribute to hepatoblastoma susceptibly and YTHDC1 gene polymorphisms may have a cumulative effect on hepatoblastoma risk.

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confidence: 99%

YTHDC1 gene polymorphisms and hepatoblastoma susceptibility in Chinese children: A seven‐center case–control study

Chen

et al. 2020

The Journal of Gene Medicine

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“…A provisional diagnosis of BWS based on clinical evaluation can be confirmed by molecular/cytogenetic tests. BWS is associated with abnormal regulation of gene transcription in two gene domains imprinted on chromosome 11p15.5 [ 32 , 44 , 45 ] Isolated hydrocephalus or megalencephaly can be diagnosed by clinical examination, family history, and x-ray examinations [ 32 ] …”

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confidence: 99%

Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones

Spadari

Pulicari

Pellegrini

et al. 2022

Maxillofac Plast Reconstr Surg

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Background Gorlin syndrome, also known as Gorlin-Goltz syndrome (GGS) or basal cell nevus syndrome (BCNS) or nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant familial cancer syndrome. It is characterized by the presence of numerous basal cell carcinomas (BCCs), along with skeletal, ophthalmic, and neurological abnormalities. It is essential to anticipate the diagnosis by identifying the pathology through the available diagnostic tests, clinical signs, and radiological manifestations, setting up an adequate treatment plan. Main body In the first part, we searched recent databases including MEDLINE (PubMed), Embase, and the Cochrane Library by analyzing the etiopathogenesis of the disease, identifying the genetic alterations underlying them. Subsequently, we defined what are, to date, the major and minor clinical diagnostic criteria, the possible genetic tests to be performed, and the pathologies with which to perform differential diagnosis. The radiological investigations were reviewed based on the most recent literature, and in the second part, we performed a review regarding the existing jawbone protocols, treating simple enucleation, enucleation with bone curettage in association or not with topical use of cytotoxic chemicals, and “en bloc” resection followed by possible bone reconstruction, marsupialization, decompression, and cryotherapy. Conclusion To promote the most efficient and accurate management of GGS, this article summarizes the clinical features of the disease, pathogenesis, diagnostic criteria, differential diagnosis, and surgical protocols. To arrive at an early diagnosis of the syndrome, it would be advisable to perform radiographic and clinical examinations from the young age of the patient. The management of the patient with GGS requires a multidisciplinary approach ensuring an adequate quality of life and effective treatment of symptoms.

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“…The most common tumor associated with this syndrome are Wilms tumor (52%), hepatoblastoma (14%), neuroblastoma (10%), rhabdomyosarcoma (5%), adrenocortical carcinoma (3%) [7]. Most children (>80%) with BWS do not develop cancer; however, children with BWS are much more likely (~600 times more) than other children to develop certain childhood cancers, particularly Wilms' tumour (nephroblastoma), pancreato-blastoma and hepatoblastoma [12,17]. Individuals with BWS appear to only be at increased risk for cancer during childhood (especially before age four) and do not have an increased risk of developing cancer in adulthood [12].…”

Section: ) Hepatoblastomamentioning

confidence: 99%

“…Hepatoblastoma, the risk of these diminishes after the age of 3 years. They can also be detected by abdominal ultrasound but, as not all the liver can be viewed, AFP (alpha-feta-protein) levels in the blood may also be monitored 3 monthly [17]. As the risk of these tumors is so low, this test is not usually carried out [7].…”

Section: ) Hepatoblastomamentioning

confidence: 99%

Beckwith-Wiedemann Syndrome: A Case Report at the Gynaeco-Obstetric and Pediatric Hospital in Yaounde, Cameroon

Tague¹,

Mah²,

Nguefack³

et al. 2020

AJP

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Beckwith-Wiedemann syndrome is a rare congenital syndrome, but one of the most common among overgrowth syndromes. It was described firstly by Beckwith in 1963. The incidence of BWS is about 1:13 700 births, with an equal sex distribution. It is characterized by macrosomia, macroglossia, omphalocele and anterior abdominal wall defects. It is a complex multigenic disorder caused by dysregulation of the gene printed on chromosome 11p. 15. A relationship has been established between assisted fertilization methods and its occurrence. This syndrome predisposes to childhood cancer. Its incidence is not known in developing countries such as Cameroon due to the rarity of reported cases, variability in the presentation of the syndrome, financial constraints and lack of access to genetic and molecular studies. In our opinion, we are reporting the first case of Beckwith-Wiedemann syndrome in our country. We present here the case of a newborn female baby delivered at the gyneco-obstetric and pediatric hospital in Yaoundé and admitted to our neonatology unit. The diagnosis was made on the basis of clinical signs suggestive of Beckwith-Wiedemann syndrome. She presented an omphalocele diagnosed on antenatal ultrasound, macrosomia, macroglossia and ear abnormalities. The case is presented to raise awareness and highlight the particularity of the management of this rare disease.

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Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome

Cited by 11 publications

References 19 publications

YTHDC1 gene polymorphisms and hepatoblastoma susceptibility in Chinese children: A seven‐center case–control study

YTHDC1 gene polymorphisms and hepatoblastoma susceptibility in Chinese children: A seven‐center case–control study

Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones

Beckwith-Wiedemann Syndrome: A Case Report at the Gynaeco-Obstetric and Pediatric Hospital in Yaounde, Cameroon

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