BackgroundMosaicplasty has been associated with good short- to long-term results. Nevertheless, the osteochondral harvesting is restricted to the donor-site area available and it may lead to significant donor-site morbidity.PurposeProvide an overview of donor-site morbidity associated with harvesting of osteochondral plugs from the knee joint in mosaicplasty procedure.MethodsComprehensive search using Pubmed, Cochrane Library, SPORTDiscus and CINAHL databases was carried out through 10th October of 2016. As inclusion criteria, all English-language studies that assessed the knee donor-site morbidity after mosaicplasty were accepted. The outcomes were the description and rate of knee donor-site morbidity, sample’s and cartilage defect’s characterization and mosaicplasty-related features. Correlation between mosaicplasty features and rate of morbidity was performed. The methodological and reporting quality were assessed according to Coleman’s methodology score.ResultsTwenty-one studies were included, comprising a total of 1726 patients, with 1473 and 268 knee and ankle cartilage defects were included. The defect size ranged from 0.85 cm2 to 4.9 cm2 and most commonly 3 or less plugs (averaging 2.9 to 9.4 mm) were used. Donor-site for osteochondral harvesting included margins of the femoral trochlea (condyles), intercondylar notch, patellofemoral joint and upper tibio-fibular joint. Mean donor-site morbidity was 5.9 % and 19.6 % for knee and ankle mosaicplasty procedures, respectively. Concerning knee-to-knee mosaicplasty procedures, the most common donor-site morbidity complaints were patellofemoral disturbances (22 %) and crepitation (31 %), and in knee-to-ankle procedures there was a clear tendency for pain or instability during daily living or sports activities (44 %), followed by patellofemoral disturbances, knee stiffness and persistent pain (13 % each). There was no significant correlation between rate of donor-site morbidity and size of the defect, number and size of the plugs (p > 0.05).ConclusionsOsteochondral harvesting in mosaicplasty often results in considerable donor-site morbidity. The donor-site morbidity for knee-to-ankle (16.9 %) was greater than knee-to-knee (5.9 %) mosaicplasty procedures, without any significant correlation between rate of donor-site morbidity and size of the defect, number and size of the plugs. Lack or imcomplete of donor-site morbidity reporting within the mosaicplasty studies is a concern that should be addressed in future studies.Level of evidenceLevel IV, systematic review of Level I-IV studies.

The identification of families at-risk for hereditary cancer is extremely important due to the prevention potential in those families. However, the number of Brazilian genetic services providing oncogenetic care is extremely low for the continental dimension of the country and its population. Therefore, at-risk patients do not receive appropriate assistance. This report describes the creation, structure and management of a cancer genetics service in a reference center for cancer prevention and treatment, the Barretos Cancer Hospital (BCH). The Oncogenetics Department (OD) of BCH offers, free of charge, to all patients/relatives with clinical criteria, the possibility to perform i) genetic counseling, ii) preventive examinations and iii) genetic testing with the best quality standards. The OD has a multidisciplinary team and is integrated with all specialties. The genetic counseling process consists (mostly) of two visits. In 2014, 614 individuals (371 families) were seen by the OD. To date, over 800 families were referred by the OD for genetic testing. The support provided by the Oncogenetics team is crucial to identify at-risk individuals and to develop preventive and personalized behaviors for each situation, not only to the upper-middle class population, but also to the people whose only possibility is the public health system.

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.

Background: KRAS mutations are important events in colorectal carcinogenesis, as well as negative predictors of response to EGFR inhibitors treatment. Aim: To investigate the association of clinical-pathological features with KRAS mutations in colorectal cancer patients treated. Methods: Data from 69 patients with colorectal cancer either metastatic at diagnosis or later, were retrospectively analyzed. The direct sequencing and pyrosequencing techniques were related to KRAS exon 2. The mutation diagnosis and its type were determined. Results: KRAS mutation was identified in 43.4% of patients. The most common was c.35G>T (p.G12V), c.35G>A (p.G12D) and c.38G>A (p.G13D). No correlation was found between KRAS mutation and age (p=0.646) or gender (p=0.815). However, mutated group had higher CEA levels at admission (p=0.048) and codon 13 mutation was associated with involvement of more than one metastatic site in disease progression (p=0.029). Although there was no association between primary tumor site and mutation diagnosis (p=0.568), primary colon was associated with worse overall survival (p=0.009). Conclusion: The KRAS mutation was identified in almost half of patients. Mutated KRAS group had higher levels of CEA at admission and the mutation at codon 13 was associated with involvement of more than one metastatic site in the course of the disease. Colon disease was associated with the worst overall survival.

Background: Germline mutation screening of BRCA1 and BRCA2 genes is performed in suspected familial breast cancer cases, but a causative mutation is found in only 30% of patients. The development of additional methods to identify good candidates for BRCA1 and BRCA2 analysis would therefore increase the efficacy of diagnostic mutation screening. With this in mind, we developed a study to determine molecular signatures of BRCA1—or BRCA2—mutated breast cancers. Materials and Methods: Array-cgh (comparative genomic hybridization) and transcriptomic analysis were performed on a series of 103 familial breast cancers. The series included 7 breast cancers with a BRCA1 mutation and 5 breast cancers with a BRCA2 mutation. The remaining 91 cases were obtained from 73 families selected on the basis of at least 3 affected first-degree relatives or at least 2 affected first-degree relatives with breast cancer at an average age of 45 years. Array-cgh analyses were performed on a 4407 BAC-array (CIT-V8) manufactured by IntegraGen. Transcriptomic analyses were performed using an Affymetrix Human Genome U133 Plus 2.0 chip. Results: Using supervised clustering analyses we identified two transcriptomic signatures: one for BRCA1-mutated breast cancers consisting of 600 probe sets and another for BRCA2-mutated breast cancers also consisting of 600 probes sets. We also defined cgh-array signatures, based on the presence of specific genomic rearrangements, one for BRCA1-mutated breast cancers and one for BRCA2-mutated breast cancers. Conclusions: This study identified molecular signatures of breast cancers with BRCA1 or BRCA2 germline mutations. Genes present in these signatures could be exploited to find new markers for such breast cancers. We also identified specific genomic rearrangements in these breast cancers, which could be screened for in a diagnostic setting using fluorescence in situ hybridization, thus improving patient selection for BRCA1 and BRCA2 molecular genetic analysis.

Background Malignant bowel obstruction (MBO) is a frequent complication in advanced cancer patients and especially those with abdominal tumors. The clinical management of MBO requires a specific and individualized approach based on the disease prognosis. Surgery is recommended. Less invasive approaches such as endoscopic treatments should be considered when surgery is contraindicated. The priority of care for inoperable and consolidated MBO is to control the symptoms and promote the maximum level of comfort. Objectives This study aimed to develop recommendations for the effective management of MBO. Methods A questionnaire was administered to all members of the Brazilian Society of Surgical Oncology, of whom 41 surgeons participated in the survey. A literature review of studies retrieved from the National Library of Medicine database was conducted on particular topics chosen by the participants. These topics addressed questions regarding the MBO management, to define the level of evidence and strength of each recommendation, and an adapted version of the Infectious Diseases Society of America Health Service rating system was used. Results Most aspects of the medical approach and management strategies reviewed were strongly recommended by the participants. Conclusions Guidelines outlining the strategies for management MBO were developed based on the strongest evidence available in the literature.