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The heterogeneity of response to neoadjuvant chemoradiotherapy (NCRT) is still a challenge in locally advanced rectal cancer (LARC). The evaluation of thymidylate synthase (TYMS) and RAD23 homolog B (RAD23B) expression in circulating tumor cells (CTCs) provides complementary clinical information. CTCs were prospectively evaluated in 166 blood samples (63 patients) with LARC undergoing NCRT. The primary objective was to verify if the absence of RAD23B/TYMS in CTCs would correlate with pathological complete response (pCR). Secondary objectives were to correlate CTC kinetics before (C1)/after NCRT (C2), in addition to the expression of transforming growth factor-ß receptor I (TGF-ßRI) with survival rates. CTCs were isolated by ISET and evaluated by immunocytochemistry (protein expression). At C1, RAD23B was detected in 54.1% of patients with no pCR and its absence in 91.7% of patients with pCR (p = 0.014); TYMS- was observed in 90% of patients with pCR and TYMS+ in 51.7% without pCR (p = 0.057). Patients with CTC2 > CTC1 had worse disease-free survival (DFS) (p = 0.00025) and overall survival (OS) (p = 0.0036) compared with those with CTC2 ≤ CTC1. TGF-ßRI expression in any time correlated with worse DFS (p = 0.059). To conclude, RAD23B/TYMS and CTC kinetics may facilitate the personalized treatment of LARC.

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Abstract Introduction: Colorectal carcinoma is the third most prevalent neoplasm in the world, and the second cause of death by cancer. The most part of these neoplasms are sporadic by somatic mutations, but around 15% are hereditary, such as Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC). Despite being the same tumor, it has differences between these two contexts as well as different prognosis. In Lynch syndrome cases, the survival of these individuals was greater than that observed in sporadic cases. Methods: This review focuses on the different characteristics and development of colorectal carcinoma in sporadic and Lynch syndrome cases, in order to conclude what may motivate the greater survival in the tumors associated with this syndrome. Results: Although the histopathological features drive into a worse prognosis, the colorectal carcinoma in the Lynch Syndrome presents a greater survival comparing to sporadic colorectal carcinoma. Discussion: The greater survival in the colorectal carcinoma in the HNPCC compared to the sporadic carcinomas has been linked to factors such as high microsatellite instability, diploid predominance, earlier screening for colo-rectal carcinoma, deficient DNA repair mechanism, low p53 mutation rate, and presence of lymphoid aggregates involving the neoplasm. Conclusion: Further studies should be conducted to provide new insights about survival of colorectal carcinoma in Lynch syndrome, as well as the therapeutic alternatives for this neoplasia.

Resumo Introdução: O carcinoma colorretal é a terceira neoplasia mais prevalente no mundo, bem como a segunda causa de morte por câncer. A maioria destas neoplasias são esporádicas, devidas a mutações somáticas, mas cerca de 15% são hereditárias como a síndrome de Lynch ou Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Apesar de ser a mesma neoplasia, esta apresenta características clinico-patológicas e moleculares distintas, bem como diferentes prognósticos. Nos casos de síndrome de Lynch, a sobrevida parece ser maior quando comparada com os carcinomas esporádicos. Métodos: Realizamos uma revisão bibliográfica sobre as diferentes características e desenvolvimentos do carcinoma colorretal esporádico e no contexto da síndrome de Lynch, para concluir o que causa a maior sobrevida no caso das neoplasias associadas a esta síndrome. Resultados: Apesar das características histopatológicas apontarem para um pior prognóstico, o HNPCC apresenta uma maior sobrevida em relação ao carcinoma colorretal esporádico. Discussão: A maior sobrevivência nos carcinomas colorretais associados ao HNPCC em comparação com os carcinomas colorretais esporádicos tem sido atribuída a fatores como a elevada instabilidade microssatélite, a predominância diploide, a realização de rastreio para o carcinoma colorretal mais precoce, deficiente mecanismo de reparação de DNA, menor taxa de mutação da p53 e existência de agregados linfoides a envolver a neoplasia. Conclusão: Consideramos que deve ser encorajado o estudo mais aprofundado dos fatores que levam à maior sobrevida do carcinoma colorretal na síndrome de Lynch, bem como de alternativas terapêuticas para esta neoplasia.

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BACKGROUND: Miles procedure is often necessary for patients with low rectal carcinoma. However, this operation often affects the quality of life of patients, to evaluate the advantages of improved operation (anal reconstruction), the quality of life and survival between patients undergoing anal reconstruction and patients undergoing traditional lower abdominal stoma after radical resection were analyzed. METHODS: The clinical data of 43 patients with low situated rectal carcinoma were retrospectively analyzed. 23 patients with left lower abdominal stoma after radical resection (Miles procedure) were divided into group A, and 20 patients with reconstruction of the anus in situ after radical resection were in group B. All patients were investigated by the European Organization for Research and Treatment of Cancer (EORTC) QLQ-C30 and QLQ-CR38 questionnaire, the clinical data are recorded. Independent sample T test was used to analyze the difference in quality of life between group A and group B at 3, 6, and 12 months after surgery, and Kaplan-Meier was used to compare the difference in overall survival between group A and group B. RESULTS: The results of T test showed that there were statistical significance in global health status and physical functioning between group A and group B at 3 and 6 months, but no statistical significance at 12 months (P = 0.024, P = 0.019, P = 0.115 for global health status; P = 0.004, P = 0.006, P = 0.065 for physical functioning, respectively). Emotional functioning and social functioning were also statistically significant between group A and group B at 3, 6, and 12 months (P = 0.041, P = 0.040, P = 0.034 for Emotional functioning; P = 0.020, P = 0.009, P = 0.032 for social functioning, respectively). This study also found that there was no statistical significance in body image and sexual functioning between group A and group B at 3 months, but there was statistical significance at 6 and 12 months(P = 0.098, P = 0.035, P = 0.045 for body image; P = 0.110, P = 0.048, P = 0.047 for sexual functioning, respectively). There were statistically significant about sexual enjoyment and defecation problems at 3, 6, and 12 months (P = 0.023, P = 0.028, P = 0.050 for sexual enjoyment; P = 0.013, P = 0.011, P = 0.050 for defecation problems, respectively).The results of Kaplan-Meier showed that the overall survival (OS) between group A and group B was not statistically significant (χ2 = 0.600, P = 0.439). CONCLUSIONS: There was no difference in survival time between group A and group B, but compared with the patients with left lower abdominal stoma(group A), the quality of life was better in patients with reconstruction of the anus in situ (group B). It is significant to improve the traditional lower abdominal stoma operation.

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Squamous cell carcinoma (SCC) of the rectum is a rare clinical entity with an incidence rate of 0.1-0.25% per 1,000 cases. Though its etiology and pathogenesis remains unclear, it has been associated with chronic inflammation and infections. Herein, we report a case of an 82-year-old female who presented with a 2-month history of worsening abdominal pain, hematochezia, and bilateral inguinal lymphadenopathy with right-sided purulent discharge. Two years prior, she had had an unremarkable screening colonoscopy which met all quality indicators. Abdominal CT scan showed an irregular rectal mass with bulky pelvic and retroperitoneal adenopathy. Colonoscopy revealed one large circumferential nonobstructing lesion in the rectum. Endoscopic ultrasound confirmed its origin from the rectal wall with an enlarged perirectal lymph node. Cold biopsy followed by histopathology revealed SCC of the rectum.

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INTRODUCTION: Neoadjuvant radiochemotherapy followed by radical surgery is the standard approach in advanced rectal carcinoma. Tumor response is determined in histological specimen. OBJECTIVE: To assess predictive factors for survival in 115 patients. PATIENTS AND METHOD: 115 patients treated with neoadjuvant radiochemotherapy followed by radical surgery with total mesorectal excision, in our hospital from January 2007 to December 2014. All patients received pelvic radiotherapy with concomitant chemotherapy, followed by radical surgery and in some adjuvant chemotherapy. RESULTS: In univariate analysis, distance to anal verge, radial margin, perineural invasion, and good grade regression are predictive factors for both, specific and disease free survival; and in multivariant, only radial margin and perineural invasion were predictive factors for survival. We found distance to anal verge (<5 cm) as the only clinical factor to predict a positive margin in the histologic specimen. CONCLUSIONS: Perineural invasion and positive radial margin are predictive factors for both specific and disease free survival.

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Introducción: los programas de screening y la mejora en las técnicas diagnósticas han aumentado el porcentaje de tumores rectales que se pueden tratar en estadios iniciales. La morbimortalidad asociada a la cirugía radical de la neoplasia rectal, así como la tendencia a una cirugía menos agresiva, ha hecho que se desarrollen las técnicas de abordaje transanal, aplicando las últimas tecnologías disponibles. Material y métodos: se realizó una revisión de la literatura, considerando las diferentes técnicas de excisión endoscópica. Resultados: la cirugía endoscópica transanal, en todas sus variantes, ha demostrado ser un abordaje seguro para el tratamiento de adenomas y tumores rectales en estadios iniciales (pT1N0). Conclusión: son necesarios más estudios que permitan demostrar la seguridad de ampliar esta técnica para el tratamiento de lesiones avanzadas, asociada a quimio-radioterapia neoadyuvante.

Background: screening programs and improvement of diagnostic techniques have increased the percentage of rectal tumors that can be treated in an early stage. Radical surgery of the rectum is associated with high morbimortality, and the general tendency towards a less aggressive surgery has led to the development of transanal techniques, adjusting the latest technologies available. Methods: a review of the literature, including the different types of endoscopic surgery available. Results: transanal endoscopic microsurgery, in all its variants, has proven to be a safe and effective method for treating rectal adenomas and early stage cancer (pT1N0). Conclusion: further studies are required to prove the safeness of these techniques on more advanced lesions, in association with neoadjuvant chemoradiation therapy.

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O Carcinoma Espinocelular de Reto é entidade extremamente rara e seu comportamento biológico permanece desconhecido. O tratamento pode variar entre radio e quimioterapia isoladamente ou complementar ao tratamento cirúrgico. Relatamos caso de carcinoma espinocelular de reto superior, tratado com radio e quimioterapia, com regressão total da lesão.

Squamous cell carcinoma of the rectum is a extremely rare neoplasm and its biological behavior remains unknown. Treatment varies from surgery with and without adjuvant therapy to chemotherapy and radiotherapy alone. We present a patient with squamous cell carcinoma of the superior rectum who underwent chemo and radiotherapy exclusively, with total regression of the tumor.

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