Human Papilloma Virus in Retinoblastoma Tissues from Korean Patients

Ryoo, Na-Kyung; Kim, Jieun; Choung, Ho Kyung; Kim, Namju; Lee, Min‐Jeong; Khwarg, Sang-In

doi:10.3341/kjo.2013.27.5.368

Cited by 16 publications

(19 citation statements)

References 18 publications

(22 reference statements)

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“…The PCR products (360 nucleotide long) of the seven afflicted children with Retinoblastoma (P1, 5,7,9,12,15,20) and their relatives as Controls (C2-C22) are shown in figure 1A. All 22 samples yielded sufficient quality bands (sample # 19 did not show a PCR product in this gel picture but gave a clear band in another run.…”

Section: Pcr Products Of Exon 18mentioning

confidence: 98%

“…Retinoblastoma (RB) is a rare embryonic neoplasm of retinal origin and the most common intraocular tumour in children, with 3% incidence of all paediatric tumours and a frequency averaging 1:20.000 live born in different populations (1)(2)(3)(4)(5)(6)(7)(8)(9). It has good prognosis if diagnosed early but it is lifethreatening when diagnosed late (1)(2)(3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%

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Molecular Genetic Analysis ofRB1gene among Sudanese children with Retinoblastoma

Ibrahim

Saleem

Eltayeb³

et al. 2019

Preprint

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BACKGROUND: Retinoblastoma (RB), the commonest early childhood intraocular tumor, is most often related to mutations in the RB1 gene with an incidence of 3% of all pediatric tumors. It has good prognosis if diagnosed early but it is life-threatening when diagnosed late. OBJECTIVE: To study the Molecular Genetic Analysis of Retinoblastoma (RB) in Sudanese families. METHODS: Thirty one (n=31) clinically and histopathologically diagnosed cases of RB attending Makkah Eye Complex (MEC) Orbit clinic (Khartoum, Sudan) were included in this Molecular Genetic RB Analysis. Fresh blood samples extracted from seven RB patients and 15 close families for DNA extraction and PCR were sent for Genetic Sequencing and In silico approach for "Exon 18 mutations" which is one of the highly mutated exons worldwide. RESULTS: The majority of patients (41.9%) were below five years old. Females were 58.1%, males were 41.9%. Leukocoria was the commonest sign at presentation (41.9%). RB Unilaterality were in (77.4%) while Bilaterality in 19.4%. Both eyes were equally affected 50% each. The age at diagnosis time ranged from 0.02 to five years. Consanguinity of parents was very high (85.7%), the 1 st degree cousins were less (28.6%) while the 2 nd degree was high (57.1%). The patients' ethnic background and geographical area were from seven different tribes; all belong to the Western Sudan. The molecular genetic study showed that exon 18 was free of mutation among the seven patients + their three relatives. The Functional Analysis and (SNPs) prediction study of exon 18 from NCBI data base showed that the various computational approaches used (SIFT, PolyPhen-2, I-mutant and Project hope) identified 16 reported mutations worldwide, three of which (rs137853292, rs375645171 and rs772068738) are major nsSNPs (non-synonymous) which might contribute to native RB1 protein malfunction and ultimately causing carcinoma. CONCLUSION: RB mainly affected children under five years and both sexes are equally affected. Unilaterality was predominant. Consanguinity plays a role in inheritance and the majority of patients were from Western Sudan. The most commonly detected deleterious mutations worldwide in exon 18 were not found in the Sudanese studies samples. Further screening for the highly reported mutations in exons 8, 10 and 14 or Next Generation Sequencing (NGS) are recommended. In silico tools are useful in studying the functional analysis of SNPs.

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Section: Pcr Products Of Exon 18mentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Molecular Genetic Analysis ofRB1gene among Sudanese children with Retinoblastoma

Ibrahim

Saleem

Eltayeb³

et al. 2019

Preprint

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“…Retinoblastoma is an intraocular tumor involving neuroectodermal cells of the retina, affecting 18,000-30,000 children per year (Antoneli et al, 2011; Chauhan et al, 2020; Orjuela et al, 2000; Palazzi et al, 2003; Ryoo et al, 2013; Sachdeva and O’Brien, 2012). Most retinoblastomas arise from inherited or acquired mutations in the RB1 gene, leading to biallelic inactivation of this gene (Friend et al, 1986; Knudson, 1971).…”

Section: Introductionmentioning

confidence: 99%

“…Although this relationship is not always suggested (Palazzi et al, 2003; Ryoo et al, 2013), child exposure to HPV during pregnancy and/or childbirth, indicates vertical viral transmission. In this scenario, it is suggested that HPV could be a factor in the development of oncogenic processes, supporting the idea that the virus is related, in fact, with the etiopathogenesis of RB (Bhuvaneswari et al, 2012; Lee et al, 2013; Skoczyński et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Immunohistochemical Detection of early and late Human Papillomaviruses (HPV) proteins in Retinoblastoma tumors

Pessoa

Melo

Araldi

et al. 2020

Preprint

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In this study, we evaluated the presence of early and late Human Papillomavirus (HPV) proteins in retinoblastoma Brazilian patients. For this, 8 formalin-fixed paraffin-embedded retinoblastoma tissue blocks were used. HPV DNA presence was determined by in situ hybridization (ISH). Immunohistochemistry were performed to verify HPV16/18 E6, E1^E4, and L1 proteins. HPV was detected in all retinoblastoma tumors and viral DNA was labeled in tumor cells, retinal layers and optical nerve structures. In addition, E1^E4, E6 and L1 proteins were detected in all samples in the same areas where HPV DNA was detected. Our data showed the presence and expression of early and late HPV proteins in retinoblastoma tumors from Brazilian children. However, further studies should be performed to clarify the role of HPV infection in retinoblastoma tumor.

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“…[30] We know high risk HPV's (primarily 16 and 18) are definitely involved in cervical, pharyngeal, penile, anal, vaginal, and vulva cancers [31] and recently meta-analysis suggests HPV is probably involved in other cancers as well such as lung, [32,33] prostate, [34,35] breast, [36] colon, [37] ovarian, [38] bladder, [39] and non-melanoma skin cancer. [40] In addition, HPV has been found in cancers like cutaneous malignant melanoma, [41,42] eye, [43] esophageal, [44] and stomach. [45,46] HPV may be the reason some cancers are recently increasing over time like pancreas, liver, thyroid, and kidney, [47] and is possibly involved in other cancers that have not yet been discovered.…”

Section: Introductionmentioning

confidence: 99%

All sites but skin cancer incidences analyzed worldwide by sex, age, and skin type over time (1955-2007), advancing age, and UVB dose reveals important carcinogenic drivers

Godar

Gurov²,

Merrill

2017

JER

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Because we observed increasing incidences over time, advancing age, higher estrogen levels, decreasing UVB (290-315 nm) doses, or lower vitamin D3, and Human Papillomavirus hiding in immune-privileged sites of hair follicles play roles in melanoma, we wondered if the majority of cancers might have similar carcinogenic drivers. To investigate this possibility, we performed worldwide analysis of all sites but skin cancer over time , advancing age, and UVB doses for males and females with all skin types and ages (0-85+) and in five age groups using IARC data. To investigate Human Papillomavirus's role, we analyzed the incidences of breast, prostate, and colon cancers in a developed country with European ancestry (New Zealand) having high amounts of androgenic hair and a developing country with Asian ancestry (India) having low amounts of androgenic hair. To potentially add epidemiology to the already established role of estrogen in cancer, we analyzed males and females in various countries around the world using the incidence of breast cancer (> 70 yr.) as an established indicator of estrogen levels. The analysis reveals cancer incidences are steadily increasing over time in developed but not developing countries regardless of skin type. Only US white, but not black, breast, prostate, and colon cancer incidences in the oldest age group significantly decreased with increasing UVB dose suggesting a role for vitamin D3. The data suggests the carcinogenic drivers in many cancers are estrogen, increasing age (or reactive oxygen species), decreasing vitamin D3 levels, and persistence of Human Papillomavirus infection in immune-privileged sites.

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Human Papilloma Virus in Retinoblastoma Tissues from Korean Patients

Cited by 16 publications

References 18 publications

Molecular Genetic Analysis ofRB1gene among Sudanese children with Retinoblastoma

Molecular Genetic Analysis ofRB1gene among Sudanese children with Retinoblastoma

Immunohistochemical Detection of early and late Human Papillomaviruses (HPV) proteins in Retinoblastoma tumors

All sites but skin cancer incidences analyzed worldwide by sex, age, and skin type over time (1955-2007), advancing age, and UVB dose reveals important carcinogenic drivers

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