RESUMEN

BACKGROUND: Risk-reducing operations are an important part of the management of hereditary predisposition to cancer. In selected cases, they can considerably reduce the morbidity and mortality associated with cancer in this population. OBJECTIVES: The Brazilian Society of Surgical Oncology (BSSO) developed this guideline to establish national benchmarks for cancer risk-reducing operations. METHODS: The guideline was prepared from May to December 2021 by a multidisciplinary team of experts to discuss the surgical management of cancer predisposition syndromes. Eleven questions were defined and assigned to expert groups that reviewed the literature and drafted preliminary recommendations. Following a review by the coordinators and a second review by all participants, the groups made final adjustments, classified the level of evidence, and voted on the recommendations. RESULTS: For all questions including risk-reducing colectomy, gastrectomy, and thyroidectomy, a major agreement was achieved by the participants, always using accessible alternatives. CONCLUSION: This and its accompanying article represent the first guideline in cancer risk reduction surgery developed by the BSSO and it should serve as an important reference for the management of families with cancer predisposition.

Asunto(s)

Neoplasias , Oncología Quirúrgica , Brasil/epidemiología , Humanos , Glándula Tiroides

RESUMEN

MUTYH encodes a glycosylase involved in the base excision repair of DNA. Biallelic pathogenic germline variants in MUTYH cause an autosomal recessive condition known as MUTYH-associated adenomatous polyposis and consequently increase the risk of colorectal cancer. However, reports of increased cancer risk in individuals carrying only one defective MUTYH allele are controversial and based on studies involving few individuals. Here, we describe a comprehensive investigation of monoallelic pathogenic MUTYH germline variants in 10,389 cancer patients across 33 different tumour types and 117,000 healthy individuals. Our results indicate that monoallelic pathogenic MUTYH germline variants can lead to tumorigenesis through a mechanism of somatic loss of heterozygosity of the functional MUTYH allele in the tumour. We confirmed that the frequency of monoallelic pathogenic MUTYH germline variants is higher in individuals with cancer than in the general population, although this frequency is not homogeneous among tumour types. We also demonstrated that the MUTYH mutational signature is present only in tumours with loss of the functional allele and found that the characteristic MUTYH base substitution (C>A) increases stop-codon generation. We identified key genes that are affected during tumorigenesis. In conclusion, we propose that carriers of the monoallelic pathogenic MUTYH germline variant are at a higher risk of developing tumours, especially those with frequent loss of heterozygosity events, such as adrenal adenocarcinoma, although the overall risk is still low. © 2021 The Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Asunto(s)

Biomarcadores de Tumor/genética , Transformación Celular Neoplásica/genética , ADN Glicosilasas/genética , Mutación de Línea Germinal , Neoplasias/genética , Estudios de Casos y Controles , Transformación Celular Neoplásica/metabolismo , Transformación Celular Neoplásica/patología , Bases de Datos Genéticas , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Pérdida de Heterocigocidad , Neoplasias/enzimología , Neoplasias/patología , Fenotipo , Pronóstico , Medición de Riesgo , Factores de Riesgo

RESUMEN

BACKGROUND: Familial adenomatous polyposis (FAP) is a syndrome caused by germline pathogenic variants in the tumor suppressor gene adenomatous polyposis coli (APC). Identification of APC pathogenic variants sites and the genotype-phenotype correlation are important for characterizing, monitoring, and treating members of affected families. The aim of this study was to correlate genotype-phenotype of Brazilian individuals carrying APC pathogenic germline variants and that have FAP. METHODS: The polyposis phenotype of 99 individuals from 35 families between July 2013 and December 2014 were prospectively evaluated based on the InSIGHT polyposis staging classification. Seven extra-colonic manifestations were assessed and the clinical manifestations correlated with the APC genotype. RESULTS: The age of the study participants ranged from 12 to 67 years (median of 29 years). Twenty-six APC pathogenic variants were identified. Fifty-five cases harbored nonsense pathogenic variants (55.6%). Frameshift alterations were noted in 39 cases (39.4%). Aberrant splicing was noted in 1 case (1%). Rearrangements were observed in 3 cases (3%). An association between nonsense variants and rearrangement was noted in 1 case (1%). The genotype-phenotype correlation analysis led the identification of classic FAP in 94 cases (94.9%). Profuse polyposis was identified in 5 cases (5.1%). Thirty-six cases were diagnosed with cancer of which 29 cases (80.6%) were colorectal cancer, 1 case (2.7%) was brain cancer, 4 cases (11.2%) were papillary thyroid cancer, and 2 cases (5.5%) were stomach cancer. The extra-colonic manifestations included 9 individuals with desmoids tumors, 10 with osteomas, and 9 with congenital hypertrophy of the retinal pigment epithelium. CONCLUSIONS: The genotype-phenotype correlation in Brazilian individuals with FAP revealed specific findings not previously reported for other cohorts, demonstrating the relevance of knowledge regarding the variable pathogenic variants and clinical presentation in different populations for adequate individual clinical management of patients harboring this medical condition.

Asunto(s)

Poliposis Adenomatosa del Colon/genética , Adolescente , Adulto , Anciano , Niño , Femenino , Estudios de Asociación Genética , Mutación de Línea Germinal , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven

RESUMEN

One of the challenges for Latin American countries is to include in their healthcare systems technologies that can be applied to hereditary cancer detection and management. The aim of the study is to create and validate a questionnaire to identify individuals with possible risk for hereditary cancer predisposition syndromes (HCPS), using different strategies in a Cancer Prevention Service in Brazil. The primary screening questionnaire (PSQ) was developed to identify families at-risk for HCPS. The PSQ was validated using discrimination measures, and the reproducibility was estimated through kappa coefficient. Patients with at least one affirmative answer had the pedigree drawn using three alternative interview approaches: in-person, by telephone, or letter. Validation of these approaches was done. Kappa and intraclass correlation coefficients were used to analyze data's reproducibility considering the presence of clinical criteria for HCPS. The PSQ was applied to a convenience sample of 20,000 women of which 3121 (15.6%) answered at least one affirmative question and 1938 had their pedigrees drawn. The PSQ showed sensitivity and specificity scores of 94.4% and 75%, respectively, and a kappa of 0.64. The strategies for pedigree drawing had reproducibility coefficients of 0.976 and 0.850 for the telephone and letter approaches, respectively. Pedigree analysis allowed us to identify 465 individuals (24.0%) fulfilling at least one clinical criterion for HCPS. The PSQ fulfills its function, allowing the identification of HCPS at-risk families. The use of alternative screening methods may reduce the number of excluded at-risk individuals/families who live in locations where oncogenetic services are not established.

Asunto(s)

Neoplasias de la Mama/genética , Neoplasias Colorrectales/genética , Tamizaje Masivo/métodos , Neoplasias Ováricas/genética , Encuestas y Cuestionarios , Adolescente , Adulto , Edad de Inicio , Anciano , Brasil/epidemiología , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/epidemiología , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiología , Correspondencia como Asunto , Femenino , Predisposición Genética a la Enfermedad , Herencia , Humanos , Entrevistas como Asunto , Persona de Mediana Edad , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/epidemiología , Linaje , Fenotipo , Vigilancia de la Población , Valor Predictivo de las Pruebas , Reproducibilidad de los Resultados , Medición de Riesgo , Factores de Riesgo , Teléfono , Adulto Joven

RESUMEN

In colorectal carcinoma (CRC), 35% of cases are known to have a hereditary component, while a lower proportion (∼ 5%) can be explained by known genetic factors. In this study, copy number variations (CNVs) were evaluated in 45 unrelated patients with clinical hypothesis of Lynch syndrome (Amsterdam or Bethesda criteria); negative for MLH1, MSH2, MSH6, PMS2, CHEK2*1100delC and TP53 pathogenic mutations; aiming to reveal new predisposing genes. Analyses with two different microarray platforms (Agilent 180K and Affymetrix CytoScan HD) revealed 35 rare CNVs covering 67 known genes in 22 patients. Gains (GALNT6 and GALNT11) and losses (SEMA3C) involving the same gene families related to CRC susceptibility were found among the rare CNVs. Segregation analysis performed on four relatives from one family suggested the involvement of GALNT11 and KMT2C in those at risk of developing CRC. Notably, in silico molecular analysis revealed that 61% (41/67) of the genes covered by rare CNVs were associated with cancer, mainly colorectal (17 genes). Ten common SNPs, previously associated with CRC, were genotyped in 39 index patients and 100 sporadic CRC cases. Although no significant, an increased number of risk alleles was detected in the index cases compared with the sporadic CRC patients. None of the SNPs were covered by CNVs, suggesting an independent effect of each alteration in cancer susceptibility. In conclusion, rare germline CNVs and common SNPs may contribute to an increased risk for hereditary CRC in patients with mismatch repair proficiency.

Asunto(s)

Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Variaciones en el Número de Copia de ADN/genética , Predisposición Genética a la Enfermedad/genética , Mutación , Reparación de la Incompatibilidad de ADN , Sitios Genéticos , Genotipo , Humanos , Análisis de Secuencia por Matrices de Oligonucleótidos , Polimorfismo de Nucleótido Simple

RESUMEN

Despite one third of breast (BC) and colorectal cancer (CRC) cases having a hereditary component, only a small proportion can be explained by germline mutations. The aim of this study was to identify potential genomic alterations related to cancer predisposition. Copy number variations (CNVs) were interrogated in 113 unrelated cases fulfilling the criteria for hereditary BC/CRC and presenting non-pathogenic mutations in BRCA1, BRCA2, MLH1, MSH2, TP53, and CHEK2 genes. An identical germline deep intronic deletion of ROBO1 was identified in three index patients using two microarray platforms (Agilent 4x180K and Affymetrix CytoScan HD). The ROBO1 deletion was confirmed by quantitative PCR (qPCR). Six relatives were also evaluated by CytoScan HD Array. Genomic analysis confirmed a co-segregation of the ROBO1 deletion with the occurrence of cancer in two families. Direct sequencing revealed no pathogenic ROBO1 point mutations. Transcriptomic analysis (HTA 2.0, Affymetrix) in two breast carcinomas from a single patient revealed ROBO1 down-expression with no splicing events near the intronic deletion. Deeper in silico analysis showed several enhancer regions and a histone methylation mark in the deleted region. The ROBO1 deletion in a putative transcriptional regulatory region, its down-expression in tumor samples, and the results of the co-segregation analysis revealing the presence of the alteration in affected individuals suggest a pathogenic effect of the ROBO1 in cancer predisposition.

Asunto(s)

Neoplasias de la Mama/genética , Neoplasias Colorrectales/genética , Eliminación de Gen , Proteínas del Tejido Nervioso/genética , Receptores Inmunológicos/genética , Adulto , Anciano , Neoplasias Colorrectales/etiología , Variaciones en el Número de Copia de ADN , Femenino , Perfilación de la Expresión Génica , Humanos , Masculino , Persona de Mediana Edad , Proteínas Roundabout

RESUMEN

BACKGROUND: Germ line mutations in BRCA1 and BRCA2 (BRCA1/2) and other susceptibility genes have been identified as genetic causes of hereditary breast and ovarian cancer (HBOC). To identify the disease-causing mutations in a cohort of 120 Brazilian women fulfilling criteria for HBOC, we carried out a comprehensive screening of BRCA1/2, TP53 R337H, CHEK2 1100delC, followed by an analysis of copy number variations in 14 additional breast cancer susceptibility genes (PTEN, ATM, NBN, RAD50, RAD51, BRIP1, PALB2, MLH1, MSH2, MSH6, TP53, CDKN2A, CDH1 and CTNNB1). METHODS: Capillary sequencing and multiplex ligation-dependent probe amplification (MLPA) were used for detecting point mutations and copy number variations (CNVs), respectively, for the BRCA1 and BRCA2 genes; capillary sequencing was used for point mutation for both variants TP53 R337H and CHEK2 1100delC, and finally array comparative genomic hybridization (array-CGH) was used for identifying CNVs in the 14 additional genes. RESULTS: The positive detection rate in our series was 26%. BRCA1 pathogenic mutations were found in 20 cases, including two cases with CNVs, whereas BRCA2 mutations were found in 7 cases. We also found three patients with the TP53 R337H mutation and one patient with the CHEK2 1100delC mutation. Seven (25%) pathogenic mutations in BRCA1/2 were firstly described, including a splice-site BRCA1 mutation for which pathogenicity was confirmed by the presence of an aberrant transcript showing the loss of the last 62 bp of exon 7. Microdeletions of exon 4 in ATM and exon 2 in PTEN were identified in BRCA2-mutated and BRCA1/2-negative patients, respectively. CONCLUSIONS: In summary, our results showed a high frequency of BRCA1/2 mutations and a higher prevalence of BRCA1 (64.5%) gene. Moreover, the detection of the TP53 R337H variant in our series and the fact that this variant has a founder effect in our population prompted us to suggest that all female breast cancer patients with clinical criteria for HBOC and negative for BRCA1/2 genes should be tested for the TP53 R337H variant. Furthermore, the presence of genomic structural rearrangement resulting in CNVs in other genes that predispose breast cancer in conjunction with BRCA2 point mutations demonstrated a highly complex genetic etiology in Brazilian breast cancer families.

Asunto(s)

Variaciones en el Número de Copia de ADN , Síndrome de Cáncer de Mama y Ovario Hereditario/genética , Mutación Puntual , Adulto , Anciano , Anciano de 80 o más Años , Empalme Alternativo , Secuencia de Aminoácidos , Brasil , Quinasa de Punto de Control 2/genética , Hibridación Genómica Comparativa , Análisis Mutacional de ADN , Exones , Femenino , Dosificación de Gen , Genes BRCA1 , Genes BRCA2 , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Síndrome de Cáncer de Mama y Ovario Hereditario/epidemiología , Heterocigoto , Humanos , Persona de Mediana Edad , Datos de Secuencia Molecular , Tasa de Mutación , Sitios de Empalme de ARN , Transcripción Genética , Proteína p53 Supresora de Tumor/genética , Adulto Joven

RESUMEN

BACKGROUND: MUTYH-associated polyposis (MAP) is a recessive, hereditary, colorectal cancer-predisposing syndrome caused by biallelic mutations in the MUTYH gene. Most MUTYH pathogenic variants are missense mutations, and until recently no gross genomic deletions had been described. CASE PRESENTATION: We have identified a large deletion in the MUTYH gene: a > 4.2 kb deletion encompassing exons 4-16. This is the second description of this rearrangement, which has been recently described as the first large deletion in this gene. The clinically suspected MAP patient was homozygous for this mutation and presented with no amplification products for 14 exons of MUTYH on initial screening. Deletion breakpoints were refined to base pair level through array comparative genomic hybridization (aCGH) analysis followed by sequencing. The identified breakpoints were located within intron 3 and 146 bp downstream of the 3' end of the gene, with the presence of an AluJr element adjacent to the distal breakpoint. The presence of a 2 bp insertion at the junction suggests the involvement of the non-homologous end joining (NHEJ) repair mechanism, possibly facilitated by rearrangement-promoting elements. Examination of the MUTYH locus revealed a high Alu density that may make this region prone to rearrangements. CONCLUSION: Large deletions are a possible mechanism for loss of function of the MUTYH gene, and investigation of such mutations may be important in identifying causative mutations in MAP patients.

Asunto(s)

Poliposis Adenomatosa del Colon/genética , ADN Glicosilasas/genética , Eliminación de Secuencia , Elementos Alu/genética , Secuencia de Bases , Hibridación Genómica Comparativa , Exones , Femenino , Homocigoto , Humanos , Persona de Mediana Edad , Datos de Secuencia Molecular , Neoplasias del Recto/genética

RESUMEN

BACKGROUND: Risk perception is considered a motivating factor for adopting preventive behaviors. This study aimed to verify the demographic characteristics and cancer family history that are predictors of risk perception and to verify if risk perception is a predictor of colonoscopy adherence. METHODS: Individuals with a family colorectal cancer history as indicated by a proband with cancer were interviewed by telephone. They responded to a questionnaire covering demographic characteristics, colonoscopy history and four questions on risk perception. Tests of multiple linear regression and logistic regression were used to identify associations between dependent and independent variables. RESULTS: The 117 participants belonged to 62 families and had a mean age of 45.2 years. The majority of these individuals were female (74.4%) and from families who met the Amsterdam Criteria (54.7%). The average risk perception was 47.6%, with a median of 50%. The average population perception of individual risk was 55.4%, with a median of 50%. Variables associated with a higher risk perception were age, gender, religion, school level, income, and death of a family member. The variable predicting colonoscopy was receiving medical information regarding risk (odds ratio OR 8.40). CONCLUSIONS: We found that family cancer history characteristics (number of relatives with cancer, risk classification) are associated with adequate risk perception. Risk perception does not predict colonoscopy in this sample. The only variable that predicted colonoscopy was receiving medical information recommending screening.

RESUMEN

PURPOSE: Investigate ErbB family expression in colorectal cancer patients with higher risk of recurrence after surgical treatment. METHODS: We studied 109 individuals with high risk stage II and stage III patients submitted to radical surgery. ErbB expression was assessed by tissue microarray technique. RESULTS: The immunohistochemical expression was considered positive for EGFR, ErbB2, ErbB3, ErbB4 membrane, and ErbB4 cytoplasmic in respectively 57.8%, 8.3%, 69.7%, 11%, and 19.3% of patients. ErbB3 negative expression was associated with lymphovascular invasion. EGFR, ErbB2, and cytoplasmic ErbB4 expression was not associated with prognosis. Membranous positive ErbB4 expression was an independent prognostic factor for recurrence. ErbB3 negative expression was an independent prognostic factor for recurrence and survival in the multivariate analysis. CONCLUSIONS: The immunohistochemical expression of ErbB3 and ErbB4 may identify a subgroup with stage II and III colorectal cancer at higher risk of recurrence.

Asunto(s)

Neoplasias Colorrectales/patología , Procedimientos Quirúrgicos del Sistema Digestivo , Receptores ErbB/análisis , Anciano , Neoplasias Colorrectales/cirugía , Citoplasma/química , Femenino , Humanos , Inmunohistoquímica , Vasos Linfáticos/patología , Masculino , Proteínas de la Membrana/análisis , Persona de Mediana Edad , Pronóstico , Receptor ErbB-2/análisis , Receptor ErbB-3/análisis , Receptor ErbB-4 , Recurrencia , Riesgo

RESUMEN

BACKGROUND AND OBJECTIVES: Wide pelvic tumors need urinary and fecal diversion. We set out to assess the efficacy of the double-barreled wet colostomy (DBWC) in patients undergoing simultaneous double diversion. MATERIAL AND METHODS: We reviewed 56 consecutive patients submitted to surgery, divided into two groups: (1) total pelvic exenteration plus DBWC (n = 26); (2) DBWC without simultaneous pelvic resection (n = 30). Pelvic tumor recurrences accounted for most patients (n = 53), whereas the remaining three patients suffered from actinic pelvic complications. RESULTS: Surgical morbidity and mortality rates were 53.8% (14/26) and 11.5% (3/26) in Group 1, and 43.5% (13/30) and 3.3% (1/30) in Group 2, respectively. Only 2 patients out of 51 (3.9%) developed late postoperative urinary tract infection. Regression of the hydronephrosis was observed in 28 out of 33 assessable patients. Median survival in Groups 1 and 2 was 8.36 and 4.14 months, respectively. In the subgroup of patients submitted to curative surgery (n = 24), actuarial cancer-specific survival rate in 2 years was 58.78%. CONCLUSION: DBWC is a safe and efficient alternative for simultaneous urinary and fecal diversion, with low morbidity and mortality rates, improvement of renal insufficiency, and low risk of postoperative urinary tract infection.

Asunto(s)

Colostomía/métodos , Neoplasias Pélvicas/cirugía , Derivación Urinaria/métodos , Adulto , Anciano , Anciano de 80 o más Años , Colostomía/mortalidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Exenteración Pélvica , Complicaciones Posoperatorias

RESUMEN

Levels of mtDNA(4977) deletions (DeltamtDNA(4977)) have been found to be lower in tumors than in adjacent non-tumoral tissues. In 87 cancer patients, DeltamtDNA(4977) was detected by multiplex polymerase chain reaction (PCR) amplification in 43 (49%) of the tumors and in 74 (85%) of the samples of non-tumoral tissues that were adjacent to the tumors. DeltamtDNA(4977) deletions were detected in 24% of the breast tumors, 52% of the colorectal tumors, 79% of the gastric tumors, and 40% of the head and neck tumors as compared with 77, 83, 100, and 90% of the adjacent respective non-tumoral tissues at the same DNA template dilution. Based on limiting dilution PCR of 16 tumors and their adjacent non-tumoral tissues, it was found that the amount of DeltamtDNA(4977) was 10- to 100-fold lower in the tumor than in the respective control non-tumoral tissues. Real-time PCR experiments were performed to quantify the number of DeltamtDNA(4977) deletions per cell, by determining the mitochondrial-to-nuclear DNA ratio. In all of the cases of breast, colorectal, gastric, and head and neck cancer the proportion of DeltamtDNA(4977) in tumors was lower than that of the respective non-tumoral tissue. Traces of DeltamtDNA(4977) in tumors were apparently due to contamination of tumor tissue with surrounding non-tumoral tissue, as evidenced by tumor microdissection and in situ PCR techniques, suggesting that tumors are essentially free of this mutation. Although the metabolic effect of DeltamtDNA(4977) may be minimal in normal (non-tumor) tissue, in tissue under stress, such as in tumors, even low levels of DeltamtDNA(4977) deletions may be intolerable.

Asunto(s)

Neoplasias de la Mama/genética , Neoplasias Colorrectales/genética , Neoplasias de Cabeza y Cuello/genética , Mutación/genética , Eliminación de Secuencia/genética , Neoplasias Gástricas/genética , Estudios de Casos y Controles , ADN Mitocondrial/genética , Femenino , Humanos , Reacción en Cadena de la Polimerasa , Células Tumorales Cultivadas

RESUMEN

UNLABELLED: The impact of clinical, pathologic, and surgical variables on the postoperative morbidity, mortality, and survival of patients undergoing extended resections of colon carcinoma were evaluated. METHODS: The medical records of 95 patients who underwent extended resections for colon carcinoma between 1953 and 1996 were reviewed. In all cases, in addition to colectomy, 1 or more organs and/or structures were resected en bloc due to a macroscopically based suspicion of tumor invasion. The clinical, pathologic, and surgical parameters were analyzed. Overall survival rates were analyzed according to the method of Kaplan and Meier. Multivariate analysis was performed using the Cox proportional hazards model. RESULTS: Eighty-six patients were treated by curative surgeries and the remaining by palliative resections. Invasion of the organs and/or adjacent structures and regional lymph nodes was found microscopically in 48 and 31 patients, respectively. The median follow-up without postoperative mortality was 47.7 months. The 5-year overall survival rates was 52.6%. The 5-year overall survival rates for patients undergoing curative and palliative surgeries was 58.3% and 0%, respectively. The mean survival time in the palliative surgery group was 3.1 months. Multivariate analysis showed that Karnofsky performance status was strongly related to the risk of postoperative complications (P = .01), and postoperative deaths were associated with the type of surgery and Karnofsky performance status at the time of admission (P = .001). CONCLUSIONS: Some patients with locally advanced colon adenocarcinomas undergoing extended resections have a 5-year overall survival rates of 58.3%. Patients could benefit from palliative-intent procedures, but these measures should cautiously be indicated and avoided in patients with low Karnofsky performance status due to high rates of postoperative mortality and poor survival.

Asunto(s)

Adenocarcinoma/cirugía , Neoplasias del Colon/cirugía , Adenocarcinoma/mortalidad , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias del Colon/mortalidad , Supervivencia sin Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Estado de Ejecución de Karnofsky , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Pronóstico , Análisis de Supervivencia

RESUMEN

Foi avaliado o impacto de variáveis clínicas, patológicas e cirúrgicas na morbidade e mortalidade pós operatórias de pacientes submetidos à ressecção extendida de carcinoma do cólon. MÉTODOS: Prontuários médicos de 95 pacientes submetidos á ressecção extendida de carcinoma de cólon entre os anos de 1953 e 1996 foram revisados. Em todos os casos, além de colectomia, um ou mais órgãos e/ou estruturas foram ressecados em bloco devido á suspeição de invasão tumoral macroscópica. As variáveis clínicas, patológicas e cirúrgicas foram analizadas. As taxas de sobrevida global foram analizadas de acordo com o método de Kaplan and Meier. A análise multivariada foi realizada empregando-se o modelo de risco proporcional de Cox. RESULTADOS: Oitenta e seis pacientes foram tratados com cirurgia curativa e o restante com ressecção paliativa. Invasão microscópica de órgãos e/ou estruturas adjacentes e linfonodos regionais foi encontrada em 48 e 31 pacientes respectivamente. O tempo de seguimento mediano, sem mortalidade pós operatória, foi de 47.7 meses. A taxa de sobrevida global em 5 anos foi de 52.6%. A taxa de sobrevida global para pacientes submetidos à cirurgia curativa e paliativa foi de 58.3% e zero, respectivamente. A sobrevida mediana no grupo de pacientes com cirurgia paliativa foi de 3.1 meses. A análise multivariada mostrou que a performance status de Karnofsky fortemente correlacionou com risco de complicações pós operatórias (p=0.01), e que o risco de morte pós operatória estava associada com o tipo de cirurgia e a performance status de Karnofsky na admissão (p=0.001) CONCLUSÕES: Pacientes com adenocarcinoma de cólon localmente avançados submetidos à ressecção extendida têm taxa de sobrevida global em 5 anos de 58.3% Este tipo de cirurgia pode ser empregada com intuito paliativo, mas deve ter indicação criteriosa e ser evitada em pacientes com baixa performance status de Karnofsky devido às altas taxas de mortalidade pós operatória e baixa sobrevida.

Asunto(s)

Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adenocarcinoma/cirugía , Neoplasias del Colon/cirugía , Adenocarcinoma/mortalidad , Neoplasias del Colon/mortalidad , Supervivencia sin Enfermedad , Estudios de Seguimiento , Estado de Ejecución de Karnofsky , Estadificación de Neoplasias , Pronóstico , Análisis de Supervivencia

RESUMEN

BACKGROUND: The main treatment for rectal carcinoma is surgery. Preoperative chemoradiation (CRT) is advocated to reduce local recurrence and improve resection of mid and low tethered rectal tumors. METHODS: Fifty-two patients with mid or low rectal tumors underwent CRT (external beam radiation plus 5-fluorouracil plus folinic acid). Patients who had low rectal tumors with complete response (CR) were not submitted to surgical treatment. All other patients were submitted to surgery, independently of the response. Mean follow-up was 32.1 months. RESULTS: Five-year overall survival was 60.5%. Clinical evaluation after CRT showed CR in 10 cases (19.2%), all low tumors; incomplete response (>50%) in 21 (40.4%); and no response (<50%) in 19 (36.6%). Among the 10 cases with CR, 8 presented with local recurrence within 3.7 to 8.8 months. Two patients were not submitted to surgery and are still alive without cancer after 37 and 58 months. Thirty-nine patients had radical surgery. Seven had local recurrences after CRT plus surgery (17.9%). Overall survival was negatively affected by lymph node metastases (P =.017) and perineural invasion (P =.026). CONCLUSIONS: Exclusive CRT approach is not safe to treat patients with low infiltrative rectal carcinoma.

Asunto(s)

Adenocarcinoma/tratamiento farmacológico , Adenocarcinoma/radioterapia , Neoplasias del Recto/tratamiento farmacológico , Neoplasias del Recto/radioterapia , Adenocarcinoma/mortalidad , Adenocarcinoma/cirugía , Adulto , Anciano , Antimetabolitos Antineoplásicos/uso terapéutico , Terapia Combinada , Femenino , Fluorouracilo/uso terapéutico , Humanos , Leucovorina/uso terapéutico , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/epidemiología , Dosificación Radioterapéutica , Neoplasias del Recto/mortalidad , Neoplasias del Recto/cirugía , Tasa de Supervivencia

RESUMEN

Os autores descrevem o caso de um paciente de 33 anos, branco, masculino, com rabdomiossarcoma de alto grau de malignidade da face anterior da coxa direita e metástase linfonodal na regiao ilíaca. Foi tratado com radioterapia pré-operatória, ressecçao ampla em monobloco com linfadenectomia iliinguinal e quimioterapia pós-operatória. Está vivo e assintomático sete anos e três meses após o tratamento. Teve como complicaçoes cirúrgicas imediatas alto débito de secreçao pelo dreno de sucçao e pequena área de deiscência com infecçao da ferida operatória. Como complicaçao tardia, apresentou fratura do colo do fêmur, que foi resolvida com cirurgia de Girdestone.

Asunto(s)

Humanos , Masculino , Adulto , Metástasis Linfática/patología , Rabdomiosarcoma/patología , Neoplasias de los Tejidos Blandos/patología , Rabdomiosarcoma/cirugía , Neoplasias de los Tejidos Blandos/cirugía , Resultado del Tratamiento

RESUMEN

Os autores apresentam um caso de leiomiossarcoma do cólon direito associado à intussuscepçäo intestinal, obstruçäo ao nível do ângulo esplênico do cólon e perfuraçäo em peritônio livre. Näo havia doença a distância e o paciente foi tratado com colectomia subtotal, anastomose término-terminal íleo-sigmoideana, lavagem da cavidade peritoneal com soro fisiológico, drenagem e antibioticoterapia. Paciente está vivo e assintomático oito anos após o tratamento e teve como fatores de bom prognóstico: tumor menor que 5 cm, ausência de invasäo de serosa, baixo grau de malignidade, doença local e cirurgia adequada

Asunto(s)

Humanos , Masculino , Adulto , Colectomía/rehabilitación , Intususcepción/diagnóstico , Leiomiosarcoma/cirugía , Neoplasias del Colon/cirugía