Association Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births

Lupo, Philip J.; Schraw, Jeremy M.; Desrosiers, Tania A.; Nembhard, Wendy N.; Langlois, Peter H.; Canfield, Mark A.; Copeland, Glenn; Meyer, Robert E.; Brown, Austin L.; Chambers, Tiffany M.; Sok, Pagna; Danysh, Heather E.; Carozza, Susan E.; Sisoudiya, Saumya D.; Hilsenbeck, Susan G.; Janitz, Amanda E.; Oster, Matthew E.; Scheuerle, Angela E.; Schiffman, Joshua D.; Luo, Cheng; Mian, Amir; Mueller, Beth A.; Huff, Chad; Rasmussen, Sonja A.; Scheurer, Michael E.; Plon, Sharon E.

doi:10.1001/jamaoncol.2019.1215

Cited by 114 publications

(147 citation statements)

References 52 publications

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“…Liver cancer of childhood can occur with other birth defects, as described in the previous section, and elsewhere [18][19][20][21][22]. Reflecting previous observations, up to three quarters of HCC tumors can occur in liver that is affected by tyrosinemia, cirrhosis due to cholestatic and cirrhotic liver disease such as Biliary atresia or Alagille's syndrome, familial cholestasis, viral hepatitis, and storage diseases such as Niemann-Pick Disease and ceroid lipofuscinosis [17].…”

Section: Presentationsupporting

confidence: 55%

Liver Transplantation for Pediatric Liver Cancer

Sindhi

Rohan

Tadros

et al. 2020

Cancers

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Unresectable hepatocellular carcinoma (HCC) was first removed successfully with total hepatectomy and liver transplantation (LT) in a child over five decades ago. Since then, children with unresectable liver cancer have benefitted greatly from LT and a confluence of several equally important endeavors. Regional and trans-continental collaborations have accelerated the development and standardization of chemotherapy regimens, which provide disease control to enable LT, and also serve as a test of unresectability. In the process, tumor histology, imaging protocols, and tumor staging have also matured to better assess response and LT candidacy. Significant trends include a steady increase in the incidence of and use of LT for hepatoblastoma, and a significant improvement in survival after LT for HCC with each decade. Although LT is curative for most unresectable primary liver sarcomas, such as embryonal sarcoma, the malignant rhabdoid tumor appears relapse-prone despite chemotherapy and LT. Pediatric liver tumors remain rare, and diagnostic uncertainty in some settings can potentially delay treatment or lead to the selection of less effective chemotherapy. We review the current knowledge relevant to diagnosis, LT candidacy, and post-transplant outcomes for these tumors, emphasizing recent observations made from large registries or larger series.

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Section: Presentationsupporting

confidence: 55%

Liver Transplantation for Pediatric Liver Cancer

Sindhi

Rohan

Tadros

et al. 2020

Cancers

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“…This was the first study to evaluate racial/ethnic and geographic distribution of congenital anomalies in Oklahoma and is unique in having a large proportion of AI/ANs compared to the USA (16% vs. 2%) (U.S. Census Bureau, ). In the future, we will collaborate with other states to better understand factors associated with the prevalence of congenital anomalies and the relationship with other health outcomes, including childhood cancer (Lupo et al, ).…”

Section: Discussionmentioning

confidence: 99%

Distribution of congenital anomalies by race/ethnicity and geospatial location in Oklahoma, 1997–2009

Janitz

Dao

Campbell

et al. 2019

Birth Defects Research

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Introduction: Congenital anomalies were the leading cause of infant mortality, responsible for 23 and 21% of deaths in Oklahoma and the USA, respectively, in 2016. We aimed to determine the prevalence by race/ethnicity and spatial distribution of congenital anomalies to identify geographic and racial/ethnic disparities, particularly among American Indian/Alaska Natives (AI/AN). Methods: We evaluated the prevalence of anomalies by type and race/ethnicity among 648,074 live births in Oklahoma from 1997 to 2009. Prevalence proportion ratios (PPRs) and 95% confidence intervals (CIs) were calculated using Poisson regression. We used Moran's I and Getis-Ord Gi* to evaluate spatial clustering for neural tube defects, critical congenital heart defects (CCHDs), and oral clefts among births whose residence geocoded to the ZIP code or finer level.Results: Overall prevalence of anomalies among live births was 3.9%. Non-Hispanic (NH) African American (PPR: 0.87, 95% CI: 0.83, 0.91), Asian/Pacific Islander (PPR: 0.70, 95% CI: 0.63, 0.78), and Hispanic (PPR: 0.87, 95% CI: 0.83, 0.91) children had a lower prevalence of anomalies compared to NH whites. The prevalence in NH AI/AN children was similar to NH whites (PPR: 1.01, 95% CI: 0.97, 1.05). However, differences in specific types of anomalies were observed by race/ethnicity. We observed no spatial autocorrelation for CCHD and oral clefts. Neural tube defects demonstrated spatial autocorrelation (p < .0001). Local hot spots varied by anomaly. Discussion: The prevalence of anomalies by race/ethnicity and geography differed by race/ethnicity and region, though this varied by anomaly. Additional research is needed to identify behavioral or environmental factors to target for prevention. K E Y W O R D SAmerican Indian/Alaska Native, congenital anomalies, prevalence, race/ethnicity, spatial analysis

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“…Fibroadipose hyperplasia [114] Patchy overgrowth of a limb or part/ region of the body None found PIK3CA or mTOR inhibitors [115] such as alpelisib [26] or everolimus [101] *A recent publication [64] shows that craniosynososis may be associated with increased incidence of hepatoblastoma, although the authors did not define which syndromes were affected upregulate levels of the inflammatory cytokine interleukin-6 (IL-6), a known pathogenic factor in rheumatoid arthritis [142,143]. An example that defies the tissue-or histology-context hypothesis is BRAF V600E, a known oncogenic driver that occurs in around 80% of benign nevi [3,4].…”

Section: Sporadic Benign Conditions Associated With Alterations In "Dmentioning

confidence: 99%

The paradox of cancer genes in non-malignant conditions: implications for precision medicine

et al. 2020

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Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures. Intriguingly, rapidly emerging data indicate that altered genes representing oncogenic drivers can also be found in sporadic non-malignant conditions, some of which have negligible and/or low potential for transformation to cancer. For instance, activating KRAS mutations are discerned in endometriosis and in brain arteriovenous malformations, inactivating TP53 tumor suppressor mutations in rheumatoid arthritis synovium, and AKT, MAPK, and AMPK pathway gene alterations in the brains of Alzheimer's disease patients. Furthermore, these types of alterations may also characterize hereditary conditions that result in diverse disabilities and that are associated with a range of lifetime susceptibility to the development of cancer, varying from near universal to no elevated risk. Very recently, the repurposing of targeted cancer drugs for non-malignant conditions that are associated with these genomic alterations has yielded therapeutic successes. For instance, the phenotypic manifestations of CLOVES syndrome, which is characterized by tissue overgrowth and complex vascular anomalies that result from the activation of PIK3CA mutations, can be ameliorated by the PIK3CA inhibitor alpelisib, which was developed and approved for breast cancer. In this review, we discuss the profound implications of finding molecular alterations in non-malignant conditions that are indistinguishable from those driving cancers, with respect to our understanding of the genomic basis of medicine, the potential confounding effects in early cancer detection that relies on sensitive blood tests for oncogenic mutations, and the possibility of reverse repurposing drugs that are used in oncology in order to ameliorate nonmalignant illnesses and/or to prevent the emergence of cancer.

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Association Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births

Cited by 114 publications

References 52 publications

Liver Transplantation for Pediatric Liver Cancer

Liver Transplantation for Pediatric Liver Cancer

Distribution of congenital anomalies by race/ethnicity and geospatial location in Oklahoma, 1997–2009

The paradox of cancer genes in non-malignant conditions: implications for precision medicine

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