Abstract The TP53 3’UTR variant rs78378222 A>C has been detected in different tumor types as a somatic alteration that reduces p53 expression through modification of polyadenylation and miRNA regulation. Its prevalence is not yet known in all tumors. Herein, we examine tumor tissue prevalence of rs7837822 in Brazilian cohorts of patients from south and southeast regions diagnosed with lung adenocarcinoma (LUAD, n=586), sarcoma (SARC, n=188) and uterine leiomyoma (ULM, n=41). The minor allele (C) was identified in heterozygosity in 6/586 LUAD tumors (prevalence = 1.02 %) and none of the SARC and ULM samples. Additionally, next generation sequencing analysis revealed that all variant-positive tumors (n=4) with sample availability had additional pathogenic or likely pathogenic somatic variants in the TP53 coding regions. Among them, 3/4 (75 %) had the same pathogenic or likely pathogenic sequence variant (allele frequency <0.05 in tumor DNA) namely c.751A>C (p.Ile251Leu). Our results indicate a low somatic prevalence of rs78378222 in LUAD, ULM and SARC tumors from Brazilian patients, which suggests that no further analysis of this variant in the specific studied regions of Brazil is warranted. However, these findings should not exclude tumor molecular testing of this TP53 3’UTR functional variant for different populations.

RESUMO JUSTIFICATIVA E OBJETIVOS: A síndrome complexa de dor regional se caracteriza por apresentar alterações autonômicas, sensitivas e motoras de evolução crônica de difícil controle. Sua fisiopatologia não está totalmente definida e a busca por um tratamento cada vez mais eficaz é objeto de preocupação médica. O comprometimento da região orofacial tem uma incidência ainda mais rara e a literatura relata apenas 14 casos em cinco décadas. O objetivo deste relato foi alertar médicos e pesquisadores para a importância de um diagnóstico correto e mostrar a possibilidade de controle dessa disfunção com o tratamento conservador. RELATO DO CASO: Paciente do sexo feminino, 68 anos, após trauma facial e três intervenções cirúrgicas posteriores, desenvolveu quadro de síndrome complexa de dor regional orofacial. Foram realizados vários esquemas terapêuticos, o último dos quais tornou-a completamente assintomática: oxcarbazepina (900mg/dia), morfina de liberação controlada (120mg/dia), fluoxetina (40mg/dia) e clonazepam (2mg/dia), eletroterapia e reabilitação oral. CONCLUSÃO: Os critérios de diagnóstico para a síndrome complexa de dor regional, preconizados pela International Association for the Study of Pain, revisados em 2007, devem ser seguidos. O tratamento desta síndrome neuropática inclui anticonvulsivantes, tricíclicos e opioides, eletroterapia, bloqueio somático e de gânglio estrelado, este último quando a dor for mantida pelo sistema nervoso simpático. Neste relato de uma síndrome complexa de dor regional II orofacial foi mostrado o controle da dor sem a necessidade de bloqueio do gânglio simpático, o que pode alertar a classe médica para um correto diagnóstico e um tratamento eficaz e menos invasivo.

ABSTRACT BACKGROUND AND OBJECTIVES: The complex regional pain syndrome is characterized by presenting autonomic, sensory and motor difficult to control changes of the chronic evolution. Its pathophysiology and treatment are not fully defined, and the search for an increasingly effective treatment is a subject of medical concern. The involvement of the orofacial region has an even rarer incidence, and the literature reports only 14 cases in five decades. The objective of this report was to warn physicians and researchers about the importance of a correct diagnosis and to show the possibility of controlling this dysfunction with conservative treatment. CASE REPORT: A 68-year-old female patient, who after a facial trauma and three subsequent surgical procedures, developed orofacial complex regional pain syndrome. Several therapeutic regimens were performed, and after the last one she became completely asymptomatic: oxcarbazepine (900mg/day), morphine-controlled liberation (120mg/day), fluoxetine (40mg/day) and clonazepam (2mg/day), electrotherapy and oral rehabilitation. CONCLUSION: The diagnosis criteria for complex regional pain syndrome recommended by the International Association for the Study of Pain, revised in 2007, should be followed. The treatment of this neuropathic syndrome includes anticonvulsants, tricyclics, opioids, electrotherapy and somatic and stellate ganglion block, the latter when the pain is maintained by the sympathetic nervous system. In this report of an orofacial complex regional pain syndrome II, pain control was shown without the need for sympathetic ganglion block, which can be a warning to the medical class to a correct diagnosis and an effective and less invasive treatment.