Reporte de caso: tumor desmoides gigante de pared abdominal con rápido crecimiento durante el embarazo

Antecedentes: Los tumores desmoides son neoplasias raras monoclonales de tejido blando, que surgen a partir de células madre mesenquimales. Son uno de los tumores más raros en todo el mundo, con una incidencia anual estimada de 2-4 nuevos casos por millón de personas. Los cambios hormonales e inmunológicos que ocurren durante el embarazo pueden desempeñar un papel en la severidad y curso de la enfermedad. Caso clínico: Mujer de 28 años de edad, en su quinta semana de gestación, a quien, al realizar ultrasonido de control prenatal, se le encontró tumoración de pared abdominal adherida a anexos izquierdos y útero. Se dejó a la paciente en vigilancia clínica y ecográfica. Acudió con actividad uterina anormal, se ingresó a Obstetricia con 38.2 semanas de gestación, se realizó cesárea y se tomó biopsia de la tumoración. Anatomía patológica reporta fibromatosis desmoide. Se realizó tomografía axial computada contrastada, que reportó tumoración con bordes bien definidos, en contacto con el útero, anexo izquierdo, vejiga y pared abdominal; sin datos de infiltración a estructuras adyacentes de 26 × 20.5 × 18 cm. Se operó de forma electiva, se realizó laparotomía exploradora, con resección tumoral, histerectomía y salpingo-ooforectomía izquierda, técnica de separación de componentes, colocación de malla de polipropileno y drenajes. El reporte definitivo de enfermedad fue fibromatosis desmoide. Seis meses después de su intervención quirúrgica no ha presentado recurrencia. Conclusión: Los tumores desmoides son localmente agresivos y la resección quirúrgica con márgenes libres representa la base en el tratamiento de esta dolencia; la radioterapia, quimioterapia y la hormonoterapia se utilizan como complemento en el tratamiento de estas pacientes. ABSTRACT Background: Desmoid tumours are one of the rarest tumours worldwide, with an estimated yearly incidence of 2-4 new cases per million people. They are soft tissue monoclonal neoplasms that originate from mesenchymal stem cells. It seems that the hormonal and immunological changes occurring during pregnancy may play a role in the severity and course of the disease. Clinical case: The case is presented on 28-year-old female in her fifth week of gestation, in whom an abdominal wall tumour was found attached to left adnexa and uterus while performing a prenatal ultrasound. The patient was followed up under clinical and ultrasonographic surveillance. When she presented with abnormal uterine activity at 38.2 weeks of gestation, she was admitted and obstetrics decided to perform a caesarean section. Tumour biopsy was taken during the procedure. Histopathology reported a desmoid fibromatosis. A contrast enhanced abdominal computed tomography scan was performed, showing a tumour of 26 × 20.5 × 18 cm, with well-defined borders in contact with the uterus, left adnexa, bladder and abdominal wall, with no evidence of infiltration to adjacent structures. A laparotomy, with tumour resection, hysterectomy and left salpingo-oophorectomy, components separation techniques, polypropylene mesh insertion, and drainage was performed. The final histopathology report was desmoid fibromatosis. There is no evidence of recurrence after 6 months follow-up. Conclusions: Desmoid tumours are locally aggressive and surgical resection with clear margins is the basis for the treatment of this disease, using radiotherapy, chemotherapy and hormone therapy as an adjunct in the treatment

NEPA, a fixed oral combination of netupitant and palonosetron, improves control of chemotherapy-induced nausea and vomiting (CINV) over multiple cycles of chemotherapy: results of a randomized, double-blind, phase 3 trial versus oral palonosetron

Purpose Antiemetic guidelines recommend co-administration of targeted prophylactic medications inhibiting molecular pathways involved in emesis. NEPA is a fixed oral combination of a new NK1 receptor antagonist (RA), netupitant (NETU 300 mg), and palonosetron (PALO 0.50 mg), a pharmacologically distinct 5-HT3 RA. NEPA showed superior prevention of chemotherapy-induced nausea and vomiting (CINV) compared with oral PALO in a single chemotherapy cycle; maintenance of efficacy/safety over continuing cycles is the objective of this study. Methods This study is a multinational, double-blind study comparing a single oral dose of NEPA vs oral PALO in chemotherapy-naïve patients receiving anthracycline/ cyclophosphamide-based chemotherapy along with dexamethasone 12 mg (NEPA) or 20 mg (PALO) on day 1. The primary efficacy endpoint was delayed (25–120 h) complete response (CR: no emesis, no rescue medication) in cycle 1. Sustained efficacy was evaluated during the multicycle extension by calculating the proportion of patients with overall (0–120 h) CR in cycles 2–4 and by assessing the probability of sustained CR over multiple cycles. Results Of 1455 patients randomized, 1286 (88 %) participated in the multiple-cycle extension for a total of 5969 cycles; 76 % completed ≥4 cycles. The proportion of patients with an overall CR was significantly greater for NEPA than oral PALO for cycles 1–4 (74.3 vs 66.6 %, 80.3 vs 66.7 %, 83.8 vs 70.3 %, and 83.8 vs 74.6 %, respectively; p ≤ 0.001 each cycle). The cumulative percentage of patients with a sustained CR over all 4 cycles was also greater for NEPA (p < 0.0001). NEPA was well tolerated over cycles. Conclusions NEPA, a convenient, guideline-consistent, fixed antiemetic combination is effective and safe over multiple cycles of chemotherapy

Fulvestrant 500 mg versus anastrozole 1 mg for hormone receptor-positive advanced breast cancer (FALCON): an international, randomised, double-blind, phase 3 trial

Background Aromatase inhibitors are a standard of care for hormone receptor-positive locally advanced or metastatic breast cancer. We investigated whether the selective oestrogen receptor degrader fulvestrant could improve progression-free survival compared with anastrozole in postmenopausal patients who had not received previous endocrine therapy. Methods In this phase 3, randomised, double-blind trial, we recruited eligible patients with histologically confirmed oestrogen receptor-positive or progesterone receptor-positive, or both, locally advanced or metastatic breast cancer from 113 academic hospitals and community centres in 20 countries. Eligible patients were endocrine therapy-naive, with WHO performance status 0–2, and at least one measurable or non-measurable lesion. Patients were randomly assigned (1:1) to fulvestrant (500 mg intramuscular injection; on days 0, 14, 28, then every 28 days thereafter) or anastrozole (1 mg orally daily) using a computer-generated randomisation scheme. The primary endpoint was progression-free survival, determined by Response Evaluation Criteria in Solid Tumors version 1·1, intervention by surgery or radiotherapy because of disease deterioration, or death from any cause, assessed in the intention-to-treat population. Safety outcomes were assessed in all patients who received at least one dose of randomised treatment (including placebo). This trial is registered with ClinicalTrials.gov, number NCT01602380. Findings Between Oct 17, 2012, and July 11, 2014, 524 patients were enrolled to this study. Of these, 462 patients were randomised (230 to receive fulvestrant and 232 to receive anastrozole). Progression-free survival was significantly longer in the fulvestrant group than in the anastrozole group (hazard ratio [HR] 0·797, 95% CI 0·637–0·999, p=0·0486). Median progression-free survival was 16·6 months (95% CI 13·83–20·99) in the fulvestrant group versus 13·8 months (11·99–16·59) in the anastrozole group. The most common adverse events were arthralgia (38 [17%] in the fulvestrant group vs 24 [10%] in the anastrozole group) and hot flushes (26 [11%] in the fulvestrant group vs 24 [10%] in the anastrozole group). 16 (7%) of 228 patients in in the fulvestrant group and 11 (5%) of 232 patients in the anastrozole group discontinued because of adverse events. Interpretation Fulvestrant has superior efficacy and is a preferred treatment option for patients with hormone receptor-positive locally advanced or metastatic breast cancer who have not received previous endocrine therapy compared with a third-generation aromatase inhibitor, a standard of care for first-line treatment of these patients

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Covid-19 classification using thermal images

Significance: There is a scarcity of published research on the potential role of thermal imaging in the remote detection of respiratory issues due to coronavirus disease-19 (COVID-19). This is a comprehensive study that explores the potential of this imaging technology resulting from its convenient aspects that make it highly accessible: it is contactless, noninvasive, and devoid of harmful radiation effects, and it does not require a complicated installation process. Aim: We aim to investigate the role of thermal imaging, specifically thermal video, for the identification of SARS-CoV-2-infected people using infrared technology and to explore the role of breathing patterns in different parts of the thorax for the identification of possible COVID-19 infection. Approach: We used signal moment, signal texture, and shape moment features extracted from five different body regions of interest (whole upper body, chest, face, back, and side) of images obtained from thermal video clips in which optical flow and super-resolution were used. These features were classified into positive and negative COVID-19 using machine learning strategies. Results: COVID-19 detection for male models [receiver operating characteristic (ROC) area under the ROC curve (AUC) = 0.605 95% confidence intervals (CI) 0.58 to 0.64] is more reliable than for female models (ROC AUC = 0.577 95% CI 0.55 to 0.61). Overall, thermal imaging is not very sensitive nor specific in detecting COVID-19; the metrics were below 60% except for the chest view from males. Conclusions: We conclude that, although it may be possible to remotely identify some individuals affected by COVID-19, at this time, the diagnostic performance of current methods for body thermal imaging is not good enough to be used as a mass screening tool

3D print model for surgical planning in a case of recurrent osteoblastic osteosarcoma of the left maxilla. A case report

Osteosarcoma (OS) of the head and neck is a rare and aggressive disease characterized by the formation of osteoid by malignant osteoblasts. The mandible or maxilla are the most common sites of presentation. Radiologically, these tumors show considerable, destructive growth with periosteal reaction, which can suggest the diagnosis of OS. 3D printing, as an emerging technology, can play a role in orthopedic oncology by providing patient-specific 3D printed models to improve surgical planning and facilitate patient understanding.We present the case of a male in his early 30s with a final histological diagnosis of recurrent osteosarcoma of the left maxilla, where a 3D printed model was helpful for the diagnostic workup, surgical planning, and the procedure

Radiogenomics analysis identifies correlations of digital mammography with clinical molecular signatures in breast cancer

<div><p>In breast cancer, well-known gene expression subtypes have been related to a specific clinical outcome. However, their impact on the breast tissue phenotype has been poorly studied. Here, we investigate the association of imaging data of tumors to gene expression signatures from 71 patients with breast cancer that underwent pre-treatment digital mammograms and tumor biopsies. From digital mammograms, a semi-automated radiogenomics analysis generated 1,078 features describing the shape, signal distribution, and texture of tumors along their contralateral image used as control. From tumor biopsy, we estimated the OncotypeDX and PAM50 recurrence scores using gene expression microarrays. Then, we used multivariate analysis under stringent cross-validation to train models predicting recurrence scores. Few univariate features reached Spearman correlation coefficients above 0.4. Nevertheless, multivariate analysis yielded significantly correlated models for both signatures (correlation of OncotypeDX = 0.49 ± 0.07 and PAM50 = 0.32 ± 0.10 in stringent cross-validation and OncotypeDX = 0.83 and PAM50 = 0.78 for a unique model). Equivalent models trained from the unaffected contralateral breast were not correlated suggesting that the image signatures were tumor-specific and that overfitting was not a considerable issue. We also noted that models were improved by combining clinical information (triple negative status and progesterone receptor). The models used mostly wavelets and fractal features suggesting their importance to capture tumor information. Our results suggest that molecular-based recurrence risk and breast cancer subtypes have observable radiographic phenotypes. To our knowledge, this is the first study associating mammographic information to gene expression recurrence signatures.</p></div

Comparison of Automated and Manual DNA Isolation Methods of Liquid-Based Cytology Samples

Liquid-based cytology (LBC) has been used as a diagnostic tool for cervical cancer for years and is now being adopted for other gynecological cancers. LBC represents an important challenge to ensure that the process yields representative biospecimens for quality control (QC) of diagnostic procedures. In this study, we compare QC parameters (integrity, yield and purity, and polymerase chain reaction [PCR] amplification) of DNA isolated from LBC (N= 296) using two different nucleic acid isolation methods, manual (n = 233) or automated (n = 63). We also evaluated two different types of cytological brushes for sampling from the cervix. Our results suggest that manual isolation (yield 22.81 – 1.92 mg) resulted in increased DNA recovery when compared with automated isolation (yield 9.96 – 1.11 mg) from LBC samples, with a p-value of <0.0003. We estimated that 98% (53/54) of the samples preserved the integrity of DNA and were suitable for standard molecular biology analyses. The b-globin gene was amplified in 100% (296/296) of the DNA samples by endpoint PCR. We found no significant difference between the performance of the cytological brushes ( p value of <0.6711) in a general overview. However, when looking at the results from using each brush individually, the manual isolation method was statistically superior to the automated method. Our work illustrates the impact of good QC of preanalytic conditions, which will be important for the application of LBC for developing early detection methods for gynecological cancers

Summary of the 539 features obtained from each region of the mammogram.

<p>Summary of the 539 features obtained from each region of the mammogram.</p