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BACKGROUND AND OBJECTIVES: Ependymoma is commonly classified as World Health Organization grade 2 with the anaplastic variant categorized as grade 3. Incomplete resection or anaplastic features can result in unfavorable outcomes. Stereotactic radiosurgery (SRS) provides a minimally invasive approach for recurrent ependymomas. Our study investigates the efficacy and safety of SRS for grade 2 and 3 ependymomas in pediatric and adult populations. METHODS: We conducted a retrospective analysis on 34 patients with 75 ependymomas after CyberKnife SRS between 1998 and 2023. Fourteen were pediatric (3-18 years), and 20 were adult (19-75 years) patients. The median age was 21 years, and the median tumor volume was 0.64 cc. The median single-fraction equivalent dose was 16.6 Gy, with SRS administered at 77% of the median isodose line. RESULTS: After a median follow-up of 42.7 months (range: 3.8-438.3), 22.7% of ependymomas progressed. The 5-year local tumor control rate was 78.1%, varying between 59.6% and 90.2% for children and adults, with grade 2 at 85.9% compared with 58.5% for grade 3 tumors. The 5-year overall survival rate was 73.6%, notably higher in adults (94.7%) than in children (41%), and 100% for grade 2 but decreased to 35.9% for grade 3 patients. The 5-year progression-free survival rate was 68.5%, with 78.3% and 49.2% for adults and children, respectively, and a favorable 88.8% for grade 2, contrasting with 32.6% for grade 3 patients. Symptom improvement was observed in 85.3% of patients. Adverse radiation effects occurred in 21.4% of pediatric patients. CONCLUSION: Our study supports SRS as a viable modality for pediatric and adult patients with grade 2 and 3 ependymomas. Despite lower local tumor control in pediatric and grade 3 cases, integrating SRS holds promise for improved outcomes. Emphasizing careful patient selection, personalized treatment planning, and long-term follow-up is crucial for optimal neurosurgical outcomes.
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Neoplasias Encefálicas , Ependimoma , Radiocirurgia , Humanos , Ependimoma/cirurgia , Ependimoma/radioterapia , Radiocirurgia/métodos , Criança , Adulto , Adolescente , Masculino , Feminino , Pré-Escolar , Adulto Jovem , Estudos Retrospectivos , Pessoa de Meia-Idade , Idoso , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/radioterapia , Resultado do Tratamento , SeguimentosRESUMO
BACKGROUND: Improved treatment strategies are needed for patients with locally advanced gastric cancer with poor response to neoadjuvant chemotherapy. We aimed to describe patterns of failure for patients with no or partial response (NR, PR) to preoperative chemotherapy. PATIENTS AND METHODS: We analyzed patients with locally advanced gastric cancer treated from 2008 to 2022 with preoperative chemotherapy followed by surgery with D2 resection. We excluded patients who received radiation. Cumulative incidence of locoregional failure (LRF) and distant metastases (DM) were calculated. For patients with recurrent abdominal disease, hypothetical radiation clinical treatment volumes (CTV) were contoured on postoperative scans and compared with patterns of recurrence. RESULTS: A total of 60 patients were identified. The most used preoperative chemotherapy was FLOT (38.6%), followed by FOLFOX (30%) and ECF/ECX/EOX (23.3%). Four (6.7%), 40 (66.7%), and 9 patients (15%) had a complete pathologic response (CR), PR, and NR to neoadjuvant therapy, respectively. Among patients without a CR, 3-year overall and progression-free survival rates were 62.3% (95% CI 48-76.6%) and 51.3% (95% CI 36.9-65.7%), respectively. Three-year cumulative incidence of LRF and DM were 8.4% (95% CI 0.4-16.4%) and 41.0% (95% CI 26.3-55.4%), respectively. Absolute rates of patients having the first site of recurrence encompassed by a postoperative radiation CTV was 2.0% for patients without a CR and 0% for patients with NR. CONCLUSIONS: Patients with locally advanced gastric cancer with less than a CR to chemotherapy have poor outcomes due to high rates of DM. Adjuvant locoregional therapy such as radiation is unlikely to affect survival.
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Neoplasias Gástricas , Humanos , Neoplasias Gástricas/patologia , Terapia Neoadjuvante , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Terapia Combinada , Radioterapia Adjuvante , Quimioterapia Adjuvante , Estadiamento de NeoplasiasRESUMO
Objective The NUDT15 variants impact thiopurine dose selection in acute lymphoblastic leukemia patients. The ability to rapidly detect variants is important in clinical practice. This study aims to develop a simple polymerase chain reaction (PCR) procedure for detecting NUDT15 variants in Vietnamese patients. Materials and Methods Sanger sequencing was used to determine NUDT15 variants from 200 patients. We designed primers and optimized the PCR procedure for detection of wild-type and variant alleles and compared with Sanger sequencing results. Results The inserted variant c.55_56insGAGTCG was detected by differences in size through conventional PCR. The tetra-primer amplification refractory mutation system PCR was successful in detecting two variations, c.52G > A and c.415C > T. The sensitivity and specificity of PCR procedure achieved 100% when compared to 200 Sanger sequencing results. Conclusion Our PCR procedure is suitable for replacing Sanger sequencing to detect the NUDT15 variants in clinical setting.
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OBJECTIVE: Esthesioneuroblastoma (ENB), also known as olfactory neuroblastoma, is a rare, malignant tumor of neuroectodermal origin that arises from the olfactory neuroepithelium. In this study the authors present the first series in the literature on distant brain metastases (BMs) secondary to ENB that were treated with stereotactic radiosurgery (SRS), to evaluate the safety and effectiveness of SRS for this indication. METHODS: A retrospective analysis of clinical and radiological outcomes of patients with ENB who underwent CyberKnife (CK) SRS at a single center was conducted. The clinical and radiological outcomes of patients, including progression-free survival, overall survival, and local tumor control (LTC) were reported. RESULTS: Between 2003 and 2022, 32 distant BMs in 8 patients were treated with CK SRS at Stanford University. The median patient age at BM diagnosis was 62 years (range 47-75 years). Among 32 lesions, 2 (6%) had previously been treated with surgery, whereas for all other lesions (30 [94%]), CK SRS was used as their primary treatment modality. The median target volume was 1.5 cm3 (range 0.09-21.54 cm3). CK SRS was delivered by a median marginal dose of 23 Gy (range 15-30 Gy) and a median of 3 fractions (range 1-5 fractions) to a median isodose line of 77% (range 70%-88%). The median biologically effective dose was 48 Gy (range 21-99.9 Gy) and the median follow-up was 30 months (range 3-95 months). The LTC at 1-, 2-, and 3-year follow-up was 86%, 65%, and 50%, respectively. The median progression-free survival and overall survival were 29 months (range 11-79 months) and 51 months (range 15-79 months), respectively. None of the patients presented adverse radiation effects. CONCLUSIONS: In the authors' experience, SRS provided excellent LTC without any adverse radiation effects for BMs secondary to ENB.
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Neoplasias Encefálicas , Estesioneuroblastoma Olfatório , Neoplasias Nasais , Radiocirurgia , Humanos , Pessoa de Meia-Idade , Idoso , Radiocirurgia/efeitos adversos , Estesioneuroblastoma Olfatório/radioterapia , Estesioneuroblastoma Olfatório/cirurgia , Estesioneuroblastoma Olfatório/etiologia , Estudos Retrospectivos , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/patologia , Cavidade Nasal/cirurgia , Neoplasias Nasais/radioterapia , Neoplasias Nasais/cirurgia , Neoplasias Nasais/etiologia , Resultado do TratamentoRESUMO
Benzene, toluene, ethylbenzene, and xylenes (BTEX) are carcinogenic pollutants. However, the average concentration in 1 h of some pollutants belonging to BTEX, such as benzene, in Ho Chi Minh City (HCMC) is higher than the national standard QCVN 06:2009/BTNMT by about ten times. This research is the first to calculate the emission of BTEX for developing countries on a city scale. This paper developed a method to calculate cold emission factors based on hot emission factors for BTEX. Five spreadsheets developed and calculated these cold emission factors for five vehicle categories. A comprehensive emission inventory (EI) for BTEX was conducted in HCMC to determine the cause of BTEX pollution. An innovative methodology with bottom-up and top-down combination was applied to conduct BTEX EI, in which the EMISENS model was utilized to generate the EI for road traffic sources, and the emission factors method was utilized for other emission sources. Among emission reasons, motorcycles contribute the highest to HCMC air pollution, responsible for 93%, 90%, 98.9%, and 91.5% of benzene, toluene, ethylbenzene, and xylene, respectively. Cars contributed 5%, 6%, 0.8%, and 6.5% of benzene, toluene, ethylbenzene, and xylene, respectively. For LDVs, the emission from benzene, toluene, ethylbenzene, and xylene accounted for 1%, 2%, 0.2%, and 1.9%. The major reasons for point sources were metal production, which had 1%, 2%, and 0.1% for benzene, toluene, ethylbenzene, and xylenes emissions. The area source had a minority emission of total BTEX in Ho Chi Minh City. Our findings can be used to invest in the most significant sources to reduce BTEX in HCMC. Our approach can be applied in similar urban areas in BTEX EI. This research also developed nine measures to reduce BTEX in HCMC for human health protection.
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Poluentes Atmosféricos , Xilenos , Humanos , Xilenos/análise , Benzeno/análise , Tolueno/análise , Poluentes Atmosféricos/análise , Monitoramento Ambiental/métodos , Derivados de Benzeno/análiseRESUMO
Background: Autologous reconstruction techniques can provide a long-lasting natural breast reconstruction for patients. This study aimed to further investigate outcomes in the conversion of breast implant reconstruction into a lipofilled mini dorsi flap, focusing on reviewing its techniques, efficiency, and final results. Methods: Over 3 years, we performed a number of breast implant replacements via the lipofilled mini dorsi flap technique. The artificial implants were replaced to a deepithelized flap. The efficiency and tolerance of the technique were evaluated by the whole surgical team, and the achieved results were also analyzed by the patients in terms of postoperative pain, functional impact, and the softness of the reconstructed breast by comparing their prior condition to the lipofilled mini dorsi flap condition at least 9 months after operation. Results: Forty-seven consecutive operations were prospectively studied. The mean ± standard deviation volume of the removed implants was 348.66 ± 86.54 mL. The mean volume of fat injected was 284.13 ± 62.94 mL. The procedure's average duration was 108.93 ± 17.65 minutes. The surgical team evaluated the results as very satisfactory in 32 cases (68.1%), satisfactory in 15 cases (31.9%), and moderately satisfactory or unsatisfactory in zero cases (0.0%). Eighteen patients (38.3%) evaluated their reconstruction as very good, while 20 patients (42.6%) considered their reconstruction as good, four (8.5%) as average, and zero (0.0%) as insufficient. Conclusion: According to our experience, the lipofilled mini dorsi flap is a simple, less invasive, and quick procedure to convert breast implants into natural breast reconstruction.
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Identification of tumor-derived mutation (TDM) in liquid biopsies (LB), especially in early-stage patients, faces several challenges, including low variant-allele frequencies, interference by white blood cell (WBC)-derived mutations (WDM), benign somatic mutations and tumor heterogeneity. Here, we addressed the above-mentioned challenges in a cohort of 50 nonmetastatic colorectal cancer patients, via a workflow involving parallel sequencing of paired WBC- and tumor-gDNA. After excluding potential false positive mutations, we detected at least one TDM in LB of 56% (28/50) of patients, with the majority showing low-patient coverage, except for one TDM mapped to KMT2D that recurred in 30% (15/30) of patients.
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Ácidos Nucleicos Livres , DNA Tumoral Circulante , Neoplasias Colorretais , Ácidos Nucleicos Livres/genética , DNA Tumoral Circulante/genética , Neoplasias Colorretais/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , MutaçãoRESUMO
Radiotherapy for brain metastases has evolved tremendously over the past four decades, allowing for improved intracranial control of disease with reduced neurotoxicity. The main technological advance was provided by volumetric modulated arc therapy (VMAT), a computer-controlled delivery method that has opened the door for single-isocenter multi-metastases stereotactic radiosurgery (SRS) and hippocampal avoidance whole brain radiation therapy (HA-WBRT). Other notable advances have occurred in the combination of immune checkpoint inhibitors (ICI) and radiosurgery. When these two modalities are combined in the proper sequence (within 30 days from each other), it provides promising results in the treatment of intracranial metastases from melanoma. There is emerging evidence of a synergistic interaction between ICI and SRS, providing better intracranial tumor control and lengthening the survival of patients afflicted by this common complication of cancer.
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Neoplasias Encefálicas , Melanoma , Radiocirurgia , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/secundário , Humanos , Imunoterapia , Melanoma/secundário , Radiocirurgia/métodosRESUMO
Introduction The morbidity sequelae of advanced cancer are often irreversible. Early palliative radiation can prevent, delay, and even improve these consequences. Treatment may be delayed due to a packed computed tomography (CT) simulation schedule or other logistics, including the cost and burden of arranging ambulance transportation when radiation centers are off-site. Objectives The primary objective was to determine the feasibility of using a recent diagnostic CT scan in lieu of a dedicated simulation CT to generate an adequate plan without sacrificing dosimetric goals and subsequent efficacy or tolerability. Secondary objectives included how much the lesion has grown, and how much earlier treatment could start if planned on a diagnostic CT scan. Materials/Methods For each inpatient treated with palliative radiation, a prior recent diagnostic CT scan was imported into the RayStation (RaySearch Laboratories, Stockholm, Sweden) planning system. From these diagnostic scans, planning treatment volumes (PTV) and organs at risk (OAR) were contoured using the same technique as the patient's actual treatment. The primary outcome was to compare both the PTV coverage and OAR dose between the plan generated from the diagnostic CT compared to that from the simulation CT. Our secondary outcomes include the mean time between CT simulation and first treatment, change in tumor volume between diagnostic scan and CT simulation, and the hottest 1% of each plan (D1). Results Between May and August 2019, a total of 22 inpatients were treated palliatively. Of those 22 patients, 10 patients (ages 32-92 years, median 64.5 years, 50% spine) met study criteria and had a diagnostic CT scan that was obtained within 14 days of simulation CT that was also compatible with our planning software. In the plans that were delivered, a mean of 98.8% (range 94.4-100%) of PTV was covered by at least 95% prescription dose. In the diagnostic CT plans, a mean of 95.4% (range 84.5-100%) of PTV was covered by at least 95% prescription dose. The difference between plans trended towards significance (p=0.061). When looking at patients receiving treatment to the spine or having a diagnostic CT within four days of the simulation CT, there was no statistically significant difference between the two plans (p=0.032 and 0.030, respectively). The OARs received, on average, 1.4% less mean radiation dose in the hypothetical plans (p=0.911). All OAR constraints were met in both groups. The mean time between diagnostic CT and CT simulation was 5.9 days and between CT simulation and first treatment was 1.9 days (range 0-5 days). The mean change in tumor volume was 22.64% smaller in the diagnostic CT scan plan. The D1 was an average 1% hotter in the hypothetical plans (p=0.16). Conclusion In hospitalized patients with an indication for palliative radiation, treatment planning on a pre-existing recent diagnostic CT scan produces comparable dose distributions without increases in dose to OARs when compared to the use of CT simulation scans, particularly for the treatment of the spine or when a very recent diagnostic CT is available. Bypassing CT simulation in select cases allows for earlier delivery of radiation with less patient and logistical burden. In combination with daily image guidance, this may translate to more timely delivery of radiation, less cost and burden to critically ill patients, and improved palliative benefit.
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Targeted therapy with tyrosine kinase inhibitors (TKI) provides survival benefits to a majority of patients with non-small cell lung cancer (NSCLC). However, resistance to TKI almost always develops after treatment. Although genetic and epigenetic alterations have each been shown to drive resistance to TKI in cell line models, clinical evidence for their contribution in the acquisition of resistance remains limited. Here, we employed liquid biopsy for simultaneous analysis of genetic and epigenetic changes in 122 Vietnamese NSCLC patients undergoing TKI therapy and displaying acquired resistance. We detected multiple profiles of resistance mutations in 51 patients (41.8%). Of those, genetic alterations in EGFR, particularly EGFR amplification (n = 6), showed pronounced genome instability and genome-wide hypomethylation. Interestingly, the level of hypomethylation was associated with the duration of response to TKI treatment. We also detected hypermethylation in regulatory regions of Homeobox genes which are known to be involved in tumor differentiation. In contrast, such changes were not observed in cases with MET (n = 4) and HER2 (n = 4) amplification. Thus, our study showed that liquid biopsy could provide important insights into the heterogeneity of TKI resistance mechanisms in NSCLC patients, providing essential information for prediction of resistance and selection of subsequent treatment.
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Antineoplásicos/uso terapêutico , Carcinoma Pulmonar de Células não Pequenas/patologia , Variações do Número de Cópias de DNA , Metilação de DNA , Resistencia a Medicamentos Antineoplásicos/genética , Biópsia Líquida/métodos , Neoplasias Pulmonares/patologia , Mutação , Inibidores de Proteínas Quinases/uso terapêutico , Adulto , Idoso , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Carcinoma Pulmonar de Células não Pequenas/genética , Estudos de Coortes , Receptores ErbB/genética , Feminino , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/genética , Masculino , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: The prevalence of gene mutations in hemophagocytic lymphohistiocytosis (HLH) varied between studies. Thus far, data on the genetic background of HLH in Vietnamese patients are limited. METHODS: We recruited 94 HLH patients and analyzed for the 4 genes using Sanger sequencing technology. RESULTS: Pathogenic variants were observed in 36 (38.29%) patients, including 27 in UNC13D, 5 in STXBP2, 3 in PRF1, and 2 in STX11 (one patient with digenic variants in both UNC13D and STX11). Monoallelic variants accounted for 77.8% of all cases with mutation. A total of 23 different types of pathogenic variants were documented in the 4 genes tested, including 15 in UNC13D, 3 in PRF1, 3 in STXBP2, and 2 in STX11. Interestingly, the novel splicing variant c.3151G>A in UNC13D was recurrently identified in 8 unrelated patients. CONCLUSION: Vietnamese patients with HLH showed a distinct genetic variant spectrum, in which UNC13D is the predominant genetic lesion associated with HLH.
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Biomarcadores , Linfo-Histiocitose Hemofagocítica/genética , Proteínas de Membrana/genética , Proteínas Munc18/genética , Mutação , Perforina/genética , Proteínas Qa-SNARE/genética , Alelos , Processamento Alternativo , Análise Mutacional de DNA , Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , VietnãRESUMO
Bazex syndrome is a rare paraneoplastic dermatosis that precedes diagnosis of cancer. Awareness of this syndrome is important, as it allows early detection of underlying malignancy and may prevent misdiagnosis and delays in cancer treatment.
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INTRODUCTION: The traditional extended latissimus dorsi flap technique, in addition to lipofilling, has been one of the main procedures used for breast reconstruction after mastectomy. However, to obtain excellent results, this technique requires a large muscle harvest and further lipofilling sessions. The lipofilled mini dorsi flap technique, performed in a single operation, appealed to us as a way to improve the traditional technique.We present our experience with the lipofilled mini dorsi flap technique in a new scenario. MATERIALS AND METHODS: We performed breast reconstruction with a lipofilled mini dorsi flap in female patients with breast cancer who underwent mastectomy and immediate breast reconstruction with a lipofilled mini dorsi flap. The operative technique is detailed in this article. The results were evaluated by the patients and the surgical team. RESULTS: We performed 72 lipofilled mini dorsi flap procedures during breast reconstruction surgery from May 2017 to January 2019. Fifty-nine (81.9%) cases were immediate reconstructions. Complications, such as infection or necrosis of the flap, were not observed in this study. We noticed seroma and 1 case of infected lymphocele, which was drained.Body mass index (BMI) was directly related to postoperative dorsal seroma. The authors reported that greater BMI was associated with a higher seroma volume.Most patients evaluated their reconstruction as satisfactory. The surgical team evaluated most of the results as very satisfactory or satisfactory. There were no cases of unsatisfactory results reported either by the patients or the surgical team. CONCLUSIONS: The lipofilled mini dorsi flap technique is an efficient, elegant, and less invasive solution that is more easily and quickly performed and achieves excellent long-term results in the immediate breast reconstruction scenario. For the first time to our knowledge, lipofilling was used to reduce the extent of latissimus dorsi dissection. The postoperative follow-up was better tolerated by patients. This technique may be offered to patients regardless of oncological treatment. In our experience, the lipofilled mini dorsi flap method has become the primary technique for immediate breast reconstruction.
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Neoplasias da Mama , Mamoplastia , Mastectomia , Músculos Superficiais do Dorso , Neoplasias da Mama/cirurgia , Feminino , Humanos , Estudos Retrospectivos , Músculos Superficiais do Dorso/transplante , Retalhos CirúrgicosRESUMO
OBJECTIVES: The aim of this study was to describe the epidemiological characteristics of acute recurrent pancreatitis (ARP) among children who were admitted at Children's Hospital 2, Ho Chi Minh City, Vietnam, from May 2014 to May 2019. METHODS: Authors presented Case series study. RESULTS: A total of 33 cases met the criteria for study inclusion. The mean age of first onset 7.3 ± 4.4 years (range, 1.4-15 years), the male to female ratio was 18:15 (1.2:1). The median number of ARP admissions per patient was 3 (range, 2-14), and the median time between ARP-related hospitalization was 168 days (range, 82-240 days). The chief complaint upon hospitalization was abdominal pain, accounting for 96.9% of cases, vomiting in 87.9% of cases, and severe ARP was observed in 24% of cases. All patients underwent magnetic resonance cholangiopancreatography (MRCP), and abdominal computed tomography (CT) scans. Genetic testing was performed in 14 of 33 cases, and 5 cases had at least 1 mutation, whereas 9 were negative. The most common etiology of ARP was biliary tract disease, in 17 cases (51.5%; 11 choledochal cysts, 6 gallstones), abnormalities of the pancreas were observed in 18.2% (abnormalities of pancreatic structures in 3 cases), hypertriglyceridemia and metabolic disease were observed in 6.1% of cases, and genetic mutations were identified in 15.2% of cases. CONCLUSION: ARP is not a rare disease, and ARP patients may be admitted to the hospital many times. The chief complaints resulting in hospitalization were abdominal pain and vomiting. The most common causes were biliary tract diseases (bile duct cysts in 33.3% and gallstones in 18.2% of cases), with abnormalities of the pancreatic structure identified in 9.1% of cases, and genetic mutations detected in 15.2% of patients.
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Povo Asiático/estatística & dados numéricos , Doenças Biliares/complicações , Colelitíase/complicações , Pancreatite/diagnóstico , Pancreatite/etiologia , Pancreatite/genética , Doença Aguda/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Mutação , Pancreatopatias/complicações , Pancreatite/epidemiologia , Vietnã/epidemiologiaRESUMO
OBJECTIVE: The germline breast cancer gene (BRCA) mutation confers a lifetime high risk for breast cancer (BC) and bilateral prophylactic mastectomy is the procedure which allows the highest risk reduction rate. Among other techniques, lipofilling (LF) can be used for breast reconstruction of these patients. However, there are some oncological safety concerns on the subject. The purpose of this study was to assess the oncological risk of LF in BRCA healthy patients. MATERIALS AND METHODS: A single institution case series was built including BRCA I/II mutated patients with no previous history of BC, who underwent bilateral prophylactic mastectomy followed by breast reconstruction with exclusive LF or combined with implants or latissimus dorsi flap. Data were collected regarding patient demographics, clinical information, reconstruction techniques used, and fat grafting details. RESULTS: From September 1999 till November 2017, we identified 18 BRCA carriers with no history of BC who had undergone bilateral prophylactic mastectomy, followed by breast reconstruction with LF. A total of 36 LF procedures were performed following an implant or latissimus dorsi flap, or as an exclusive fat grafting breast reconstruction. The average number of LF sessions was 1.4 with a mean volume of 108.8cc per breast. Median follow-up was 33.0 months after mastectomy and 24.5 months after the last LF intervention; no patients were diagnosed with BC during follow-up. CONCLUSION: Germline BRCA mutation is a high-risk plight for BC. However, despite the limited follow-up, no BC was detected.
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Background: The picture of Vietnamese patients with essential thrombocythemia (ET) remains mostly undetermined. Our study intended to determine the frequency of JAK2V617F, CALR exon 9, and MPL exon 10 mutations as well as to analyze clinical characteristics associated with different mutational status in Vietnamese ET patients. Methods: We explored mutations of JAK2V617F, MPL, and CALR from 395 patients using allele specific oligonucleotide polymerase chain reaction and Sanger sequencing techniques; then, the clinical and hematological features were compared according to mutation patterns. Results: We found that JAK2V617F, CALR exon 9, and MPL exon 10 mutations were present in 56.2%, 27.6%, and 1% of the 395 patients with ET, respectively. Twelve different types of CALR mutation were detected in 109 patients, with the CALR type 1 mutation (c.1099_1150del; L367fs*46) was the most common, followed by CALR type 2 mutation (c.1154_1155insTTGTC; K385fs*47). The JAK2V617F-positive patients had older age, higher white blood cell counts and higher hemoglobin levels but lower platelet counts than patients with CALR mutations or patients negative for triple tests. There was no significant difference regarding sex ratio, white blood cell counts, platelet counts and hemoglobin levels among CALR mutation subtypes. Conclusion: we reported high frequency of JAK2V617F, CALR, and MPL mutations in Vietnamese patients with ET and underscored the importance of combined genetic tests for diagnosis and classification of ET into different subtypes.
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Calreticulina/genética , Janus Quinase 2/genética , Mutação , Receptores de Trombopoetina/genética , Trombocitemia Essencial/genética , Trombocitemia Essencial/patologia , Adulto , Idoso , Feminino , Seguimentos , Testes Hematológicos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Trombocitemia Essencial/epidemiologia , Vietnã/epidemiologiaRESUMO
Bazex syndrome (acrokeratosis paraneoplastica) is an uncommon dermatologic condition associated with an underlying malignancy, most commonly squamous cell carcinomas of the head and neck. This article describes Bazex syndrome in a 56-year-old woman who presented with bilateral cervical lymphadenopathy and a mass at the base of her tongue.
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Carcinoma Basocelular/etiologia , Carcinoma de Células Escamosas/complicações , Neoplasias de Cabeça e Pescoço/complicações , Hipotricose/etiologia , Linfadenopatia/complicações , Neoplasias Cutâneas/etiologia , Neoplasias da Língua/complicações , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Immediate breast reconstruction (IBR) improves the quality of life of patients who undergo mastectomy. The latissimus dorsi flap (LDF) method provides particularly good aesthetic results, but its tolerance to subsequent radiotherapy remains unclear. We thus sought to assess tolerance and esthetic results and satisfaction, as reported by patients who underwent IBR by LDF with or without subsequent radiotherapy. MATERIALS AND METHODS: We performed a retrospective case-control study in a population of women who were diagnosed with breast cancer between January 1999 and January 2014 and who had mastectomies with IBR by LDF without prostheses. We paired 29 patients who needed postoperative radiotherapy to 58 control patients who did not. These patients responded to a questionnaire to evaluate tolerance and their satisfaction with the aesthetic results of the reconstruction. RESULTS: In total, 86.2% of all patients reported "very good" or "good" overall aesthetic satisfaction. Consistency was judged as "very good" or "good" by 82.7% of control patients and by 93.1% of case patients. No statistically significant differences were identified between the two groups with regard to reconstruction results. The number of surgical procedures needed did not differ significantly between the two groups. CONCLUSION: In our study, IBR by LDF appeared to have excellent tolerance to subsequent radiotherapy, the latter having no impact on patient aesthetic satisfaction. Our results suggest that the possibility of postoperative radiotherapy should not prevent physicians from proposing this method to women who are candidates for it.