SÍNDROME DE GORLIN-GOLTZ
Revisão sistemática de literatura
Palavras-chave:
Síndrome de Gorlin-Goltz. Diagnóstico. Patologia. Cistos Odontogênicos.
Resumo
Introdução: A síndrome do carcinoma nevóide basocelular ou síndrome de Gorlin-Goltz foi primeiramente descrita pelos médicos Robert Gorlin e Robert Goltz em 1960. O diagnóstico precoce da doença é importante devido à suscetibilidade a neoplasias, sua possibilidade de se agravar com o avançar da idade e para evitar as deformidades maxilofaciais relacionadas aos cistos mandibulares que são característicos da síndrome. Objetivo: Este estudo tem como objetivo realizar uma revisão sistemática de literatura sobre a síndrome de Gorlin-Goltz, reunindo casos clínicos publicados em periódicos para realizar a análise das características da síndrome, associação a cistos odontogênicos e opções de tratamento. Materiais e métodos: Foi realizada uma revisão sistemática de trabalhos qualificados publicados na área de patologia e cirurgia bucomaxilofacial com foco na síndrome de Gorlin-Goltz e suas características. Discussão: Os sinais e sintomais mais comum nos casos analisados e relatados na literatura foram a presença de ceratocistos odontogênicos (80%), carcinomas basocelulares (60%), calcificação da foice do cérebro (50%) e costelas bífidas fundidas (50%). Conclusão: A literatura relata cerca de 100 características da síndrome, logo é fundamental conhecer as principais e sua prevalência em relação aos demais sintomas.
Referências
1. AL-JARBOUA, Maha N. et al. Gorlin-Goltz Syndrome: A Case Report and Literature Review. Cureus, v. 11, n. 1, 2019.
2. BACHESK, Andressa Bolognesi et al. Síndrome de Gorlin-Goltz: La Importancia de la Investigación Clínica y un Enfoque Multidisciplinario. International journal of odontostomatology, v. 15, n. 1, p. 189-195, 2021.
3. BALACHANDER, B. et al. Gorlin-goltz Syndrome (Nevoid Basal Cell Carcinoma Syndrome)-A Case Report. Biomedical & Pharmacology Journal, v. 9, n. 2, p. 853-857, 2016.
4. BALATIBAT, Emilaine; BORBE, Benedick; CASTAÑEDA, Samantha. Gorlin-Goltz Syndrome: Multiple Basal Cell Carcinoma, Bifid Rib, Palmar and Plantar Pits in a 50-Year-Old Woman. Philippine Journal of Otolaryngology Head and Neck Surgery, v. 35, n. 1, p. 71-73, 2020.
5. BORGHESI, Andrea et al. Odontogenic keratocyst: imaging features of a benign lesion with an aggressive behaviour. Insights into imaging, v. 9, n. 5, p. 883-897, 2018.
6. BOOS LIMA, Fernanda Brasil Daura Jorge et al. A Rare Case of Gorlin-Goltz Syndrome in Children. Case Reports in Dentistry, v. 2019, 2019.
7. CESINARO, Anna Maria et al. Expression of calretinin in odontogenic keratocysts and basal cell carcinomas: A study of sporadic and Gorlin-Goltz syndrome-related cases. Annals of diagnostic pathology, v. 45, p. 151472, 2020.
8. CONFORTI, Claudio et al. Basal cell carcinoma and dermal nevi of the face: comparison of localization and dermatoscopic features. 2021.
9. DA SILVA, Leorik Pereira et al. The recurrence of odontogenic keratocysts in pediatric patients is associated with clinical findings of Gorlin-Goltz Syndrome. Medicina oral, patologia oral y cirugia bucal, v. 25, n. 1, p. e56, 2020.
10. DA SILVA, Yuri Slusarenko; STOELINGA, Paul JW; DA GRAÇA NACLÉRIO-HOMEM, Maria. The presentation of odontogenic keratocysts in the jaws with an emphasis on the tooth-bearing area: a systematic review and meta-analysis. Oral and maxillofacial surgery, v. 23, n. 2, p. 133-147, 2019.
11. DE CASTRO, Mayara Santos et al. Conservative surgical treatments for nonsyndromic odontogenic keratocysts: a systematic review and meta- analysis. Clinical oral investigations, v. 22, n. 5, p. 2089-2101, 2018.
12. DONNELLY, Lorenza A. et al. Modified Carnoy's Compared to Carnoy's Solution Is Equally Effective in Preventing Recurrence of Odontogenic Keratocysts. Journal of Oral and Maxillofacial Surgery, 2021.
13. ENDERSBY, Raelene et al. Small-molecule screen reveals synergy of cell cycle checkpoint kinase inhibitors with DNA-damaging chemotherapies in medulloblastoma. Science Translational Medicine, v. 13, n. 577, 2021.
14. FIGUEIRA, Jéssica Araújo et al. Delayed Diagnosis of Gorlin–Goltz Syndrome: The Importance of the Multidisciplinary Approach. Journal of Craniofacial Surgery, v. 29, n. 6, p. e530-e531, 2018.
15. GAO, Qian et al. Novel PTCH1 mutation in Gorlin-Goltz syndrome potentially altered interactions with lipid bilayer. Oral diseases, 2020.
16. GAO, Qian et al. Novel PTCH1 mutation in Gorlin-Goltz syndrome potentially altered interactions with lipid bilayer. Oral diseases, v. 27, n. 3, p. 475-483, 2021.
17. GUTIÉRREZ PATIÑO-PAUL, Alejandro; RIVADENEYRA RODRIGUEZ, Abel. Queratoquiste odontogenico recurrente en paciente con sindrome de Gorlin-Goltz. Revista Estomatológica Herediana, v. 30, n. 1, p. 53-62, 2020.
18. HAAS JR, Orion et al. Multimodal Protocol for the Treatment of Odontogenic Keratocysts. The Open Dentistry Journal, v. 15, n. 1, 2021.
19. JAIN, Nitisha A. et al. Gorlin Goltz syndrome: a rare case report. International Journal of Research in Medical Sciences, v. 8, n. 7, p. 1, 2020.
20. JONES, Stephen; SAMANTA, Debopam. Macrocephaly. StatPearls [Internet], 2020.
21. KALOGIROU, Eleni-Marina et al. The immunohistochemical profile of basal cell nevus syndrome–associated and sporadic odontogenic keratocysts: a systematic review and meta-analysis. Clinical Oral Investigations, p. 1-17, 2021.
22. KAMALAKANNAN, P. et al. Gorlin-Goltz syndrome–a case report. Journal of Dental and Medical Sciences, v. 18, n. 3, 2019.
23. KERDOUD, Ouassime; SLIMANI, Faical. Gorlin-Goltz Syndrome: Report of 4 Cases. Asian Journal of Dental Sciences, p. 47-54, 2020.
24. KESIREDDY, Meghana et al. Long-term Response to Vism9odegib in a Patient with Gorlin-Goltz Syndrome: A Case Report and Review of Pathological Mechanisms Involved. Cureus, v. 11, n. 8, 2019.
25. KHALIQ, Mohammed Israr Ul et al. Keratocystic odontogenic tumors related to Gorlin–Goltz syndrome: A clinicopathological study. Journal of oral biology and craniofacial research, v. 6, n. 2, p. 93-100, 2016.
26. KIM, Boram et al. Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing. Scientific Reports, v. 11, n. 1, p. 1-7, 2021.
27. KORTUEM, C. et al. Gorlin-Goltz-Syndrom–nicht nur ein Syndrom maligner Lidtumoren. Der Ophthalmologe, p. 1-4, 2021.
28. LARSEN, Anne Kristine, et al. "Manifestations of Gorlin-Goltz syndrome." Dan Med J 61.5 (2014): A4829.
29. LATA, Jeevan et al. A unique case of Gorlin–Goltz syndrome with associated Sotos syndrome. Annals of Maxillofacial Surgery, v. 10, n. 1, p. 232, 2020.
30. MILANI, Cintia Mussi et al. 14-Year evolution odontogenic keratocyst: Case report. 2021.
31. MORITA, Nana et al. Keratinocytes from Gorlin Syndrome-induced pluripotent stem cells are resistant against UV radiation. Medical Molecular Morphology, p. 1-10, 2020.
32. MOHANTY, S. et al. Surgical management of the odontogenic keratocyst: A 20-year experience. International Journal of Oral and Maxillofacial Surgery, 2021.
33. MORAMARCO, Antonietta et al. Ocular manifestations in Gorlin-Goltz syndrome. Orphanet journal of rare diseases, v. 14, n. 1, p. 1-7, 2019.
34. MORAMARCO, Antonietta et al. Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients. Eye and Brain, v. 13, p. 71, 2021.
35. MONROE, Marcus; KAKARALA, Kiran. Management of Advanced Basal Cell Carcinoma of the Head and Neck. Otolaryngologic Clinics of North America, v. 54, n. 2, p. 271-280, 2021.
36. NARANG, Amit et al. Gorlin-Goltz Syndrome with Intracranial Meningioma: Case Report and Review of Literature. World Neurosurgery, v. 133, p. 324- 330, 2020.
37. NEVILLE, Brad. Patologia oral e maxilofacial. Elsevier Brasil, 2011.
38. NGUYEN, Cuong V. et al. Retrospective analysis of the histopathologic features of basal cell carcinomas in pediatric patients with basal cell nevus syndrome. Journal of cutaneous pathology, v. 48, n. 3, p. 390-395, 2021.
39. NILIUS, Manfred et al. Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome–a case report. Head & face medicine, v. 15, n. 1, p. 1-10, 2019.
40. NUTSATHAPANA, Nattaya et al. Basal Cell Nevus Syndrome caused by a new splice site mutation in PTCH1. Medical Science and Discovery, v. 8, n. 4, p. 289-290, 2021.
41. OSIECKA, Beata J.; NOCKOWSKI, Piotr; SZEPIETOWSKI, Jacek C. The use of the photodynamic method in the treatment of recurrent basal cell carcinoma on the example of Gorlin‐Goltz syndrome‐management algorithm. Dermatologic Therapy, p. e14499, 2020.
42. PARK, Slmaro et al. Changes in Cellular Regulatory Factors before and after Decompression of Odontogenic Keratocysts. Journal of Clinical Medicine, v. 10, n. 1, p. 30, 2021.
43. SCHUCH, Lauren Frenzel et al. A Brazilian multicentre study of 2,497 isolated cases of odontogenic keratocysts. Oral Diseases, v. 26, n. 3, p. 711- 715, 2020.
44. SENA, YASMIM RODRIGUES et al. GORLIN-GOLTZ SYNDROME WITH RARE ASSOCIATED FINDS: A CASE REPORT OF 17-YEAR FOLLOW-UP. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, v. 130, n. 3, p. e169-e170, 2020.
45. SENA, Yasmim Rodrigues et al. Basal Cell Nevus Syndrome with Unusual Associated Findings: A Case Report with 17 Years of Follow-Up. The American Journal of Case Reports, v. 22, p. e928670-1, 2021.
46. ŞEREFLICAN, Betül et al. Gorlin-Goltz syndrome. Turkish Archives of Pediatrics/Türk Pediatri Arşivi, v. 52, n. 3, p. 173, 2017.
47. SUCHITHRA, K. S. Gorlin Goltz Syndrome–Case Series and Review of Literature. Journal of Dental and Medical Sciences, v. 18, n. 4, 2019.
48. SUN, Yanling et al. Exploring genetic alterations in circulating tumor DNA from cerebrospinal fluid of pediatric medulloblastoma. Scientific reports, v. 11, n. 1, p. 1-8, 2021.
49. THOMAS, Ninan et al. Gorlin–Goltz syndrome: An often missed diagnosis. Annals of maxillofacial surgery, v. 6, n. 1, p. 120, 2016.
50. THOMAS, Claire N. et al. Asymptomatic macrocephaly: to scan or not to scan. Pediatric Radiology, p. 1-11, 2021.
51. TITINCHI, Fadi. Protocol for management of odontogenic keratocysts considering recurrence according to treatment methods. Journal of the Korean Association of Oral and Maxillofacial Surgeons, v. 46, n. 5, p. 358, 2020.
52. VERKOUTEREN, Babette JA et al. Eight years of experience with vismodegib for advanced and multiple basal cell carcinoma patients in the Netherlands: a retrospective cohort study. British journal of cancer, v. 124, n. 7, p. 1199-1206, 2021.
53. WEN, Jiachen; HADDEN, M. Kyle. Medulloblastoma drugs in development: Current leads, trials and drawbacks. European Journal of Medicinal Chemistry, p. 113268, 2021
54. WITMANOWSKI, Henryk et al. Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment. Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii, v. 34, n. 4, p. 381, 2017.
2. BACHESK, Andressa Bolognesi et al. Síndrome de Gorlin-Goltz: La Importancia de la Investigación Clínica y un Enfoque Multidisciplinario. International journal of odontostomatology, v. 15, n. 1, p. 189-195, 2021.
3. BALACHANDER, B. et al. Gorlin-goltz Syndrome (Nevoid Basal Cell Carcinoma Syndrome)-A Case Report. Biomedical & Pharmacology Journal, v. 9, n. 2, p. 853-857, 2016.
4. BALATIBAT, Emilaine; BORBE, Benedick; CASTAÑEDA, Samantha. Gorlin-Goltz Syndrome: Multiple Basal Cell Carcinoma, Bifid Rib, Palmar and Plantar Pits in a 50-Year-Old Woman. Philippine Journal of Otolaryngology Head and Neck Surgery, v. 35, n. 1, p. 71-73, 2020.
5. BORGHESI, Andrea et al. Odontogenic keratocyst: imaging features of a benign lesion with an aggressive behaviour. Insights into imaging, v. 9, n. 5, p. 883-897, 2018.
6. BOOS LIMA, Fernanda Brasil Daura Jorge et al. A Rare Case of Gorlin-Goltz Syndrome in Children. Case Reports in Dentistry, v. 2019, 2019.
7. CESINARO, Anna Maria et al. Expression of calretinin in odontogenic keratocysts and basal cell carcinomas: A study of sporadic and Gorlin-Goltz syndrome-related cases. Annals of diagnostic pathology, v. 45, p. 151472, 2020.
8. CONFORTI, Claudio et al. Basal cell carcinoma and dermal nevi of the face: comparison of localization and dermatoscopic features. 2021.
9. DA SILVA, Leorik Pereira et al. The recurrence of odontogenic keratocysts in pediatric patients is associated with clinical findings of Gorlin-Goltz Syndrome. Medicina oral, patologia oral y cirugia bucal, v. 25, n. 1, p. e56, 2020.
10. DA SILVA, Yuri Slusarenko; STOELINGA, Paul JW; DA GRAÇA NACLÉRIO-HOMEM, Maria. The presentation of odontogenic keratocysts in the jaws with an emphasis on the tooth-bearing area: a systematic review and meta-analysis. Oral and maxillofacial surgery, v. 23, n. 2, p. 133-147, 2019.
11. DE CASTRO, Mayara Santos et al. Conservative surgical treatments for nonsyndromic odontogenic keratocysts: a systematic review and meta- analysis. Clinical oral investigations, v. 22, n. 5, p. 2089-2101, 2018.
12. DONNELLY, Lorenza A. et al. Modified Carnoy's Compared to Carnoy's Solution Is Equally Effective in Preventing Recurrence of Odontogenic Keratocysts. Journal of Oral and Maxillofacial Surgery, 2021.
13. ENDERSBY, Raelene et al. Small-molecule screen reveals synergy of cell cycle checkpoint kinase inhibitors with DNA-damaging chemotherapies in medulloblastoma. Science Translational Medicine, v. 13, n. 577, 2021.
14. FIGUEIRA, Jéssica Araújo et al. Delayed Diagnosis of Gorlin–Goltz Syndrome: The Importance of the Multidisciplinary Approach. Journal of Craniofacial Surgery, v. 29, n. 6, p. e530-e531, 2018.
15. GAO, Qian et al. Novel PTCH1 mutation in Gorlin-Goltz syndrome potentially altered interactions with lipid bilayer. Oral diseases, 2020.
16. GAO, Qian et al. Novel PTCH1 mutation in Gorlin-Goltz syndrome potentially altered interactions with lipid bilayer. Oral diseases, v. 27, n. 3, p. 475-483, 2021.
17. GUTIÉRREZ PATIÑO-PAUL, Alejandro; RIVADENEYRA RODRIGUEZ, Abel. Queratoquiste odontogenico recurrente en paciente con sindrome de Gorlin-Goltz. Revista Estomatológica Herediana, v. 30, n. 1, p. 53-62, 2020.
18. HAAS JR, Orion et al. Multimodal Protocol for the Treatment of Odontogenic Keratocysts. The Open Dentistry Journal, v. 15, n. 1, 2021.
19. JAIN, Nitisha A. et al. Gorlin Goltz syndrome: a rare case report. International Journal of Research in Medical Sciences, v. 8, n. 7, p. 1, 2020.
20. JONES, Stephen; SAMANTA, Debopam. Macrocephaly. StatPearls [Internet], 2020.
21. KALOGIROU, Eleni-Marina et al. The immunohistochemical profile of basal cell nevus syndrome–associated and sporadic odontogenic keratocysts: a systematic review and meta-analysis. Clinical Oral Investigations, p. 1-17, 2021.
22. KAMALAKANNAN, P. et al. Gorlin-Goltz syndrome–a case report. Journal of Dental and Medical Sciences, v. 18, n. 3, 2019.
23. KERDOUD, Ouassime; SLIMANI, Faical. Gorlin-Goltz Syndrome: Report of 4 Cases. Asian Journal of Dental Sciences, p. 47-54, 2020.
24. KESIREDDY, Meghana et al. Long-term Response to Vism9odegib in a Patient with Gorlin-Goltz Syndrome: A Case Report and Review of Pathological Mechanisms Involved. Cureus, v. 11, n. 8, 2019.
25. KHALIQ, Mohammed Israr Ul et al. Keratocystic odontogenic tumors related to Gorlin–Goltz syndrome: A clinicopathological study. Journal of oral biology and craniofacial research, v. 6, n. 2, p. 93-100, 2016.
26. KIM, Boram et al. Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing. Scientific Reports, v. 11, n. 1, p. 1-7, 2021.
27. KORTUEM, C. et al. Gorlin-Goltz-Syndrom–nicht nur ein Syndrom maligner Lidtumoren. Der Ophthalmologe, p. 1-4, 2021.
28. LARSEN, Anne Kristine, et al. "Manifestations of Gorlin-Goltz syndrome." Dan Med J 61.5 (2014): A4829.
29. LATA, Jeevan et al. A unique case of Gorlin–Goltz syndrome with associated Sotos syndrome. Annals of Maxillofacial Surgery, v. 10, n. 1, p. 232, 2020.
30. MILANI, Cintia Mussi et al. 14-Year evolution odontogenic keratocyst: Case report. 2021.
31. MORITA, Nana et al. Keratinocytes from Gorlin Syndrome-induced pluripotent stem cells are resistant against UV radiation. Medical Molecular Morphology, p. 1-10, 2020.
32. MOHANTY, S. et al. Surgical management of the odontogenic keratocyst: A 20-year experience. International Journal of Oral and Maxillofacial Surgery, 2021.
33. MORAMARCO, Antonietta et al. Ocular manifestations in Gorlin-Goltz syndrome. Orphanet journal of rare diseases, v. 14, n. 1, p. 1-7, 2019.
34. MORAMARCO, Antonietta et al. Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients. Eye and Brain, v. 13, p. 71, 2021.
35. MONROE, Marcus; KAKARALA, Kiran. Management of Advanced Basal Cell Carcinoma of the Head and Neck. Otolaryngologic Clinics of North America, v. 54, n. 2, p. 271-280, 2021.
36. NARANG, Amit et al. Gorlin-Goltz Syndrome with Intracranial Meningioma: Case Report and Review of Literature. World Neurosurgery, v. 133, p. 324- 330, 2020.
37. NEVILLE, Brad. Patologia oral e maxilofacial. Elsevier Brasil, 2011.
38. NGUYEN, Cuong V. et al. Retrospective analysis of the histopathologic features of basal cell carcinomas in pediatric patients with basal cell nevus syndrome. Journal of cutaneous pathology, v. 48, n. 3, p. 390-395, 2021.
39. NILIUS, Manfred et al. Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome–a case report. Head & face medicine, v. 15, n. 1, p. 1-10, 2019.
40. NUTSATHAPANA, Nattaya et al. Basal Cell Nevus Syndrome caused by a new splice site mutation in PTCH1. Medical Science and Discovery, v. 8, n. 4, p. 289-290, 2021.
41. OSIECKA, Beata J.; NOCKOWSKI, Piotr; SZEPIETOWSKI, Jacek C. The use of the photodynamic method in the treatment of recurrent basal cell carcinoma on the example of Gorlin‐Goltz syndrome‐management algorithm. Dermatologic Therapy, p. e14499, 2020.
42. PARK, Slmaro et al. Changes in Cellular Regulatory Factors before and after Decompression of Odontogenic Keratocysts. Journal of Clinical Medicine, v. 10, n. 1, p. 30, 2021.
43. SCHUCH, Lauren Frenzel et al. A Brazilian multicentre study of 2,497 isolated cases of odontogenic keratocysts. Oral Diseases, v. 26, n. 3, p. 711- 715, 2020.
44. SENA, YASMIM RODRIGUES et al. GORLIN-GOLTZ SYNDROME WITH RARE ASSOCIATED FINDS: A CASE REPORT OF 17-YEAR FOLLOW-UP. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, v. 130, n. 3, p. e169-e170, 2020.
45. SENA, Yasmim Rodrigues et al. Basal Cell Nevus Syndrome with Unusual Associated Findings: A Case Report with 17 Years of Follow-Up. The American Journal of Case Reports, v. 22, p. e928670-1, 2021.
46. ŞEREFLICAN, Betül et al. Gorlin-Goltz syndrome. Turkish Archives of Pediatrics/Türk Pediatri Arşivi, v. 52, n. 3, p. 173, 2017.
47. SUCHITHRA, K. S. Gorlin Goltz Syndrome–Case Series and Review of Literature. Journal of Dental and Medical Sciences, v. 18, n. 4, 2019.
48. SUN, Yanling et al. Exploring genetic alterations in circulating tumor DNA from cerebrospinal fluid of pediatric medulloblastoma. Scientific reports, v. 11, n. 1, p. 1-8, 2021.
49. THOMAS, Ninan et al. Gorlin–Goltz syndrome: An often missed diagnosis. Annals of maxillofacial surgery, v. 6, n. 1, p. 120, 2016.
50. THOMAS, Claire N. et al. Asymptomatic macrocephaly: to scan or not to scan. Pediatric Radiology, p. 1-11, 2021.
51. TITINCHI, Fadi. Protocol for management of odontogenic keratocysts considering recurrence according to treatment methods. Journal of the Korean Association of Oral and Maxillofacial Surgeons, v. 46, n. 5, p. 358, 2020.
52. VERKOUTEREN, Babette JA et al. Eight years of experience with vismodegib for advanced and multiple basal cell carcinoma patients in the Netherlands: a retrospective cohort study. British journal of cancer, v. 124, n. 7, p. 1199-1206, 2021.
53. WEN, Jiachen; HADDEN, M. Kyle. Medulloblastoma drugs in development: Current leads, trials and drawbacks. European Journal of Medicinal Chemistry, p. 113268, 2021
54. WITMANOWSKI, Henryk et al. Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment. Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii, v. 34, n. 4, p. 381, 2017.
Publicado
2021-09-01
Como Citar
Rocha, L., Rodrigues, M., Carvalho, D., & Amorim, J. (2021). SÍNDROME DE GORLIN-GOLTZ. Revista Cathedral, 3(3), 1-11. Recuperado de http://cathedral.ojs.galoa.com.br/index.php/cathedral/article/view/325
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