Consejo Genético

Hereditary cancer affects 5-10% of the oncologic patients that we see ordinary in a medical oncology department. However, the great majority of the oncologist have a little knowledgement about this issue. The molecular and clinical advances in this field has provided us to detect high risk people to suffer some types of cancer, because they are germline mutation carriers in any susceptibility genes (genetic tests) and, also, the possibility of reduce the risk of suffering this disease almost in 100% of the cases (prophylactic surgery). In this paper we analyze the state-of-the-art in some aspects of hereditary cancer and its clinical management, also a little revision about the psychological situations in this type of clinical counselling

Consejo Genético

Hereditary cancer affects 5-10% of the oncologic patients that we see ordinary in a medical oncology department. However, the great majority of the oncologist have a little knowledgement about this issue. The molecular and clinical advances in this field has provided us to detect high risk people to suffer some types of cancer, because they are germline mutation carriers in any susceptibility genes (genetic tests) and, also, the possibility of reduce the risk of suffering this disease almost in 100% of the cases (prophylactic surgery). In this paper we analyze the state-of-the-art in some aspects of hereditary cancer and its clinical management, also a little revision about the psychological situations in this type of clinical counselling

Neutron features at the UPM neutronics hall

The neutronics hall of the Nuclear Engineering Department at the Polytechnical University of Madrid has been characterized. The neutron spectra and the ambient dose equivalent produced by an 241AmBe source were measured at various source-to-detector distances on the new bench. Using Monte Carlo methods a detailed model of the neutronics hall was designed, and neutron spectra and the ambient dose equivalent were calculated at the same locations where measurements were carried out. A good agreement between measured and calculated values was found

Osteonecrosis of the jaw as an adverse bisphosphonate event : Three cases of bone metastatic prostate cancer patients treated with zoledronic acid

Bisphosphonates offer a significant improvement in the quality of life for cancer patients; these potent inhibitors of bone resorption have been shown to markedly reduce the morbidity frequently resulting from bone metastases. Despite the success of bisphosphonates as therapeutic agents, however, toxicity in the form of osteonecrosis of the jaw (ONJ) is a rare complication whose incidence rate has climbed in recent years. ONJ is defined as an unexpected development of necrotic bone in the oral cavity, and is commonly associated with administration of the bisphosphonates Pamidronate and Zoledronate. Clinical features include local pain, soft-tissue swelling, and/or loose teeth; ONJ is also often correlated with previous dental procedures, such as tooth extractions, during biphosphonate therapy. Although additional risk factors--such as corticosteroids, chemotherapy, radiotherapy, trauma or infection?exhibit etiological associations with ONJ, the real pathobiology has not yet been fully elucidated. Here we report our findings on all 2005 OJN cases presented at our institution resulting from bone metastatic prostate cancer treated with zoledronic acid. The incidence of ONJ is nearly 3% (3 out of 104) in these patients

Cáncer de pulmón no microcítico: quimioterapia y otros tratamientos sistémicos

Lung cancer is the most frequent neoplasia in industrialized countries and the leading cause of cancer death worldwide. Non-small cell lung cancer (NSCLC) accounts for 75-80% of lung carcinomas. Approximately one-third of these patients are diagnosed of locally advanced disease (Stage III of TNM staging system). Although surgery is the optimal treatment strategy, even in patients with stage I disease, approximately one third of them will die within 5 years, due to relapses and distant metastases. Several studies have explored the impact of neo-adyuvant chemotherapy in free disease survival and overall survival and adjuvant chemotherapy trials have been conducted to eliminate occult micrometastases and improve overall survival. In advanced disease, primary goals of therapy are palliation of symptoms as well as improvements in quality of life without high treatment-related toxicity

Haploidentical vs. HLA-matched donor hematopoietic stem-cell transplantation for pediatric patients with acute lymphoblastic leukemia in second remission: A collaborative retrospective study of the Spanish Group for Bone Marrow Transplantation in Children (GETMON/GETH) and the Spanish Childhood Relapsed ALL Board (ReALLNet)

Acute lymphoblastic leukemia; Children; Stem cell transplantationLeucemia linfoblástica aguda; Niños; Trasplante de células madreLeucèmia limfoblàstica aguda; Nens; Trasplantament de cèl·lules mareIntroduction: Studies addressing the role of haploidentical as alternative to HLA-matched donors for stem cell transplantation (SCT) often include patients with diverse hematological malignancies in different remission statuses. Methods: We compared outcomes of children with acute lymphoblastic leukemia (ALL) undergoing SCT in second complete remission (CR2) from haploidentical (n = 25) versus HLA-matched donor (n = 51). Results: Patients were equally distributed across both groups according to age, immunophenotype, time to and site of relapse, relapse risk-group allocation, and minimal residual disease (MRD) before SCT. Incidence of graft failure, acute graft versus host disease (GVHD), and other early complications did not differ between both groups. We found no differences in overall survival (58.7% versus 59.5%; p = .8), leukemia free survival (LFS) (48% versus 36.4%; p = .5), event free survival (40% versus 34.4%; p = .69), cumulative incidence (CI) of subsequent relapse (28% versus 40.9%; p = .69), treatment related mortality (24% versus 23.6%; p = .83), CI of cGVHD (4.5% versus 18.7%; p = .2), and chronic GVHD-free and leukemia-free survival (44% versus 26.3%; p = .3) after haploidentical donor SCT. Chronic GVHD (HR = 0.09; p=.02) had protective impact, and MRD ≥ 0.01% before SCT (HR = 2.59; p=.01) had unfavorable impact on LFS. Discussion: These results support the role of haploidentical donor SCT in children with ALL in CR2

Incorporating BEAMing technology as a liquid biopsy into clinical practice for the management of colorectal cancer patients : an expert taskforce review

The importance of mutation identification for advanced colorectal cancer treatment with anti-epidermal growth factor receptor agents is well established. However, due to delays in turnaround time, low-quality tissue samples, and/or lack of standardization of testing methods a significant proportion of patients are being treated without the information that Kirsten rat sarcoma and neuroblastoma rat sarcoma (RAS) testing can provide. The detection of mutated circulating tumor DNA by BEAMing technology addresses this gap in care and allows these patients to receive international guideline-recommended expanded RAS testing with rapid turnaround times. Furthermore, the overall concordance between OncoBEAM RAS colorectal cancer testing and standard of care tissue testing is very high (93.3%). This article presents an overview of the clinical utility and potential applications of this minimally invasive method, such as early detection of emergent resistance to anti-epidermal growth factor receptor therapy. If appropriately implemented, BEAMing technology holds considerable promise to enhance the quality of patient care and improve clinical outcomes

Determinación de organofosforados y organoclorados en forrajes y leche producida en ganaderías de Pereira-Risaralda (Colombia)

The aim of this work was to determine the presence of organophosphate (OF) and organochlorine (OC) pesticides in forage and milk from dairy farms in the municipality of Pereira (Colombia). The measurement was carried out by means of gas chromatography coupled with tandem mass spectrometry with subsequent confirmation with gas chromatography with electron micro-capture detector. The results indicate the presence of OF and OC in forage and milk at levels higher than those allowed by the Codex Alimentarius and a presence in 90% of the farms, which were exposed to its application days prior to the measurements, especially of OF. The appearance of OC in is related to its persistence in soil, water, in supplements offered to livestock or their application in the area. Pesticides found in forages were not eliminated in the milk of animals that consumed them at levels that were detectable in this study.El presente trabajo tuvo por objetivo determinar la presencia de plaguicidas organofosforados (OF) y organoclorados (OC) en los forrajes y la leche de predios lecheros del municipio de Pereira (Colombia). La medición se llevó a cabo por medio de cromatografía de gases acoplado al detector de masas con posterior confirmación con cromatografía de gases con detector de micro-captura de electrones. Los resultados indican la presencia de OF y OC en forraje y leche en niveles superiores a los permitidos por el Codex Alimentarius y una presencia en el 90% de los predios, los cuales fueron expuestos a su aplicación días previos a las mediciones, especialmente de OF. La aparición de OC está relacionada con su persistencia en suelo, agua, en suplementos ofrecidos al ganado o la aplicación de estos en la zona. Los plaguicidas encontrados en los forrajes no fueron eliminados en la leche de los animales que los consumieron en niveles tales que fueran detectables en este estudio

Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging

Clinical and pathological variables. (XLSX 16 kb

Brca1 Alternative Splicing Landscape In Breast Tissue Samples

Background: BRCA1 is a key protein in cell network, involved in DNA repair pathways and cell cycle. Recently, the ENIGMA consortium has reported a high number of alternative splicing (AS) events at this locus in blood-derived samples. However, BRCA1 splicing pattern in breast tissue samples is unknown. Here, we provide an accurate description of BRCA1 splicing events distribution in breast tissue samples. Methods: BRCA1 splicing events were scanned in 70 breast tumor samples, 4 breast samples from healthy individuals and in 72 blood-derived samples by capillary electrophoresis (capillary EP). Molecular subtype was identified in all tumor samples. Splicing events were considered predominant if their relative expression level was at least the 10% of the full-length reference signal. Results: 54 BRCA1 AS events were identified, 27 of them were annotated as predominant in at least one sample. Delta 5q, Delta 13, Delta 9, Delta 5 and del 1aA were significantly more frequently annotated as predominant in breast tumor samples than in blood-derived samples. Predominant splicing events were, on average, more frequent in tumor samples than in normal breast tissue samples (P = 0.010). Similarly, likely inactivating splicing events (PTC-NMDs, Non-Coding, Delta 5 and Delta 18) were more frequently annotated as predominant in tumor than in normal breast samples (P = 0.020), whereas there were no significant differences for other splicing events (No-Fs) frequency distribution between tumor and normal breast samples (P = 0.689). Conclusions: Our results complement recent findings by the ENIGMA consortium, demonstrating that BRCA1 AS, despite its tremendous complexity, is similar in breast and blood samples, with no evidences for tissue specific AS events. Further on, we conclude that somatic inactivation of BRCA1 through spliciogenic mutations is, at best, a rare mechanism in breast carcinogenesis, albeit our data detects an excess of likely inactivating AS events in breast tumor samples