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1.
Eur Arch Otorhinolaryngol ; 281(4): 2123-2136, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38421392

RESUMEN

PURPOSE: Recent breakthroughs in natural language processing and machine learning, exemplified by ChatGPT, have spurred a paradigm shift in healthcare. Released by OpenAI in November 2022, ChatGPT rapidly gained global attention. Trained on massive text datasets, this large language model holds immense potential to revolutionize healthcare. However, existing literature often overlooks the need for rigorous validation and real-world applicability. METHODS: This head-to-head comparative study assesses ChatGPT's capabilities in providing therapeutic recommendations for head and neck cancers. Simulating every NCCN Guidelines scenarios. ChatGPT is queried on primary treatments, adjuvant treatment, and follow-up, with responses compared to the NCCN Guidelines. Performance metrics, including sensitivity, specificity, and F1 score, are employed for assessment. RESULTS: The study includes 68 hypothetical cases and 204 clinical scenarios. ChatGPT exhibits promising capabilities in addressing NCCN-related queries, achieving high sensitivity and overall accuracy across primary treatment, adjuvant treatment, and follow-up. The study's metrics showcase robustness in providing relevant suggestions. However, a few inaccuracies are noted, especially in primary treatment scenarios. CONCLUSION: Our study highlights the proficiency of ChatGPT in providing treatment suggestions. The model's alignment with the NCCN Guidelines sets the stage for a nuanced exploration of AI's evolving role in oncological decision support. However, challenges related to the interpretability of AI in clinical decision-making and the importance of clinicians understanding the underlying principles of AI models remain unexplored. As AI continues to advance, collaborative efforts between models and medical experts are deemed essential for unlocking new frontiers in personalized cancer care.


Asunto(s)
Adyuvantes Inmunológicos , Neoplasias de Cabeza y Cuello , Humanos , Benchmarking , Toma de Decisiones Clínicas , Neoplasias de Cabeza y Cuello/terapia , Inteligencia Artificial
2.
Eur Arch Otorhinolaryngol ; 280(12): 5177-5191, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37620732

RESUMEN

OBJECTIVE: The aim of this study is to analyze functional outcomes of soft palate reconstruction after oncologic surgery. METHODS: This study was conducted in conformity with the PRISMA statement. A single arm meta-analysis was performed for feeding tube dependence (FTD) (primary outcome), velopharyngeal insufficiency (VPI) and hypernasality (HN) (secondary outcomes) incidences. RESULTS: A total of 510 patients (males: 77.75%, n = 353/454) with a median age of 58 years (n = 480/510; 95% CI 57.0-61.0) who underwent soft palate surgical resection with primary reconstruction were included. Overall, the cumulative FTD rate was 1.55% (n = 28/510; 95% CI 0.24-3.96%), the VPI rate was 22.18% (n = 119/379; 95% CI 12.99-33.02%), and the HN rate was 33.01% (n = 88/234; 95% CI 19.03-46.61%). CONCLUSIONS: Soft palate reconstruction results in a low incidence of FTD, and most patients resume a full oral diet. Both obturators, primary closure, local and free flaps seem good reconstructive options. Nevertheless, more specific postoperative functional deficiencies like VPI and HN owns higher incidences, potentially affecting the quality of the swallowing and speaking function and the patient's quality of life.


Asunto(s)
Fisura del Paladar , Demencia Frontotemporal , Enfermedades Nasales , Procedimientos de Cirugía Plástica , Insuficiencia Velofaríngea , Masculino , Humanos , Persona de Mediana Edad , Demencia Frontotemporal/complicaciones , Demencia Frontotemporal/cirugía , Calidad de Vida , Paladar Blando/cirugía , Fisura del Paladar/cirugía , Insuficiencia Velofaríngea/cirugía , Enfermedades Nasales/cirugía , Resultado del Tratamiento
3.
Breast J ; 26(2): 247-251, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31489733

RESUMEN

Breast cancer is the most frequently diagnosed cancer in women in the western world and a major cause of premature death. Consequently, breast implants are widely used for breast reconstruction. Despite this, the prevalence of implant complications is low. Given widespread use of breast implants, there is an increased awareness of the risk for developing a breast implant associated- anaplastic large cell Lymphoma (BI-ALCL) although rare. Clinical presentation is variable and may include a palpable mass in the breast or axilla, generalized breast pain, or breast firmness. The estimated incidence of BI-ALCL is <3 per 1 million person years, approximately 0.1-0.3 per 100 000 women with prostheses per year. Since the publication by Keech and Creech in 1997, which reported the first case of BI-ALCL, an increasing number of BI-ALCL have appeared, in patients with both aesthetic and reconstructive indications. In this paper, we describe a patient who was diagnosed with invasive BIA-ALCL seventeen years after placement of silicone breast implants and was treated with only surgery.


Asunto(s)
Implantes de Mama/efectos adversos , Neoplasias de la Mama/patología , Linfoma Anaplásico de Células Grandes/patología , Anciano , Implantación de Mama , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/etiología , Neoplasias de la Mama/cirugía , Femenino , Humanos , Inmunohistoquímica , Linfoma Anaplásico de Células Grandes/diagnóstico por imagen , Linfoma Anaplásico de Células Grandes/etiología , Linfoma Anaplásico de Células Grandes/cirugía , Mamoplastia , Mastectomía , Tomografía Computarizada por Rayos X
4.
Breast J ; 25(3): 444-449, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30932296

RESUMEN

BACKGROUND: Significant and symptomatic cardiac comorbidity is a contraindication to adjuvant trastuzumab in breast cancer patients. However, some patients with asymptomatic, nonlimiting cardiac comorbidity and normal baseline left ventricular ejection fraction (LVEF) receive adjuvant trastuzumab in the clinical practice. We sought to describe the tolerability of trastuzumab in these patients. PATIENTS AND METHODS: Retrospective analysis of patients with baseline asymptomatic, nonlimiting cardiac comorbidity receiving adjuvant trastuzumab at six Institutions between July 2007 and January 2016. RESULTS: Thirty-seven patients with HER2-positive, surgery treated breast cancer at high risk of relapse were studied. Median age was 64 years (range 36-82), median baseline LVEF 61% (range 50%-85%). Thirteen patients (35%) received trastuzumab with adjuvant anthracycline and taxane-based regimens, 19 (51%) with taxane-based, three (8%) with off-label vinorelbine and two (5%) with off-label endocrine therapy. Most frequent cardiac comorbidities were ischemic heart disease (35%), valvular disease (30%), atrial fibrillation (19%), and conduction disorders (14%). Nine patients (24.3%) experienced a cardiac event: congestive heart failure (one patient, 3%), asymptomatic LVEF reduction (six patients, 16%), and rhythm disturbances (two patients, 5%). Trastuzumab had to be discontinued either permanently (five patients, 14%) or temporarily (two patients, 5%). At the time of last follow-up visit, all patients showed LVEF within normal limits, except one who had experienced a symptomatic cardiac event (LVEF value at last follow-up 46%). CONCLUSIONS: Caution is needed in patients with significant ongoing cardiovascular risk factors, but when adjuvant trastuzumab is deemed beneficial on breast cancer outcomes, nonlimiting cardiac comorbidity should not preclude treatment.


Asunto(s)
Antineoplásicos Inmunológicos/efectos adversos , Neoplasias de la Mama/tratamiento farmacológico , Cardiotoxicidad/etiología , Trastuzumab/efectos adversos , Adulto , Anciano , Anciano de 80 o más Años , Antineoplásicos Inmunológicos/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Neoplasias de la Mama/epidemiología , Cardiotoxicidad/epidemiología , Femenino , Cardiopatías/epidemiología , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Trastuzumab/administración & dosificación , Resultado del Tratamiento , Disfunción Ventricular Izquierda/epidemiología , Disfunción Ventricular Izquierda/etiología
6.
BMC Cancer ; 17(1): 66, 2017 01 19.
Artículo en Inglés | MEDLINE | ID: mdl-28103826

RESUMEN

BACKGROUND: Endometrioid adenocarcinoma of the uterus and ovarian endometrioid carcinoma share many morphological and molecular features. Differentiation between simultaneous primary carcinomas and ovarian metastases of an endometrial cancer may be very challenging but is essential for prognostic and therapeutic considerations. CASE PRESENTATION: In the present case study of a 33 year-old patient we used targeted amplicon next-generation re-sequencing for clarifying the origin of synchronous endometrioid cancer of the corpus uteri and the left ovary. The patient developed a metachronous lung metastasis of an endometrioid adenocarcinoma four years after hyster- and adnexectomy, vaginal brachytherapy and treatment with the synthetic steroid tibolone. Removal of the metastasis and megestrol treatment for seven years led to a complete remission. A total of 409 genes from the Ampliseq Comprehensive Cancer Panel (Ion Torrent, Thermo Fisher) were analysed by next generation sequencing and mutations in 10 genes, including ARID1A, CTNNB1, PIK3CA and PTEN were identified and confirmed by Sanger sequencing. Primary endometrial as well as ovarian cancer showed an identical mutational profile, suggesting the presence of an ovarian metastasis of the endometrial cancer, rather than a simultaneous endometrial and ovarian cancer. The metachronous lung metastasis showed a different mutational profile compared to the primary cancer. Immunohistochemical staining of the corresponding proteins suggested that the tumour development was driven by alterations in the protein function rather than by changes of the protein abundance in the cell. CONCLUSIONS: Our results have demonstrated next generation sequencing as a valuable tool in the differentiation of synchronous primary tumours and metastases, which has an important impact on the clinical decision making process. Similar to breast cancer, targeted therapies based on mutational tumour profiling will become increasingly important in endometrial and ovarian cancer. In summary, our results support the usage of next generation sequencing as a supplementary diagnostic tool, assisting in personalized precision medicine.


Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias Endometriales/patología , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Neoplasias Pulmonares/secundario , Mutación/genética , Neoplasias Primarias Múltiples/patología , Neoplasias Ováricas/secundario , Adulto , Análisis Mutacional de ADN , Neoplasias Endometriales/genética , Femenino , Humanos , Neoplasias Pulmonares/genética , Neoplasias Primarias Múltiples/genética , Neoplasias Ováricas/genética , Pronóstico
7.
Melanoma Res ; 34(2): 166-174, 2024 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-38126339

RESUMEN

Metastatic uveal melanoma (mUM) is a rare type of melanoma with poor outcomes. The first systemic treatment to significantly prolong overall survival (OS) in patients with mUM was tebentafusp, a bispecific protein that can redirect T-cells to gp-100 positive cells. However, the objective response rate according to Response Evaluation Criteria in Solid Tumors (RECIST) may underestimate the clinical impact of tebentafusp. As metabolic response assessed by PET Response Criteria in Solid Tumors (PERCIST) has been reported to better correlate with clinical outcome, we here compared the patterns of radiological and morphological responses in HLA-A*02:01-positive patients with mUM treated with tebentafusp. In the 19 enrolled patients, RECIST showed an overall response rate (ORR) of 10%, median progression-free survival of 2.8 months (95% CI 2.5-8.4), and median OS (mOS) of 18.8 months. In 10 patients, where both RECIST and PERCIST evaluation was available, the ORR was 10% for both; however, the PFS was longer for PERCIST compared to RECIST, 3.1 and 2.4 months, respectively. A poor agreement between the criteria was observed at all assessments (Cohen's kappa ≤0), yet they differed significantly only at the first on-treatment imaging ( P  = 0.037). Elevated baseline LDH and age were associated with an increased risk for RECIST progression, while lymphocyte decrease after the first infusions correlated to reduced risk of RECIST progression. Detectable ctDNA at baseline did not correlate with progression. Early response to tebentafusp may be incompletely captured by conventional imaging, leading to a need to consider both tumor morphology and metabolism.


Asunto(s)
Melanoma , Neoplasias Primarias Secundarias , Proteínas Recombinantes de Fusión , Neoplasias Cutáneas , Neoplasias de la Úvea , Humanos , Melanoma/tratamiento farmacológico , Resultado del Tratamiento
8.
Front Surg ; 11: 1358500, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38689603

RESUMEN

Introduction: The increasing population of survivors of head and neck carcinomas is becoming more conspicuous. Consequently, the pivotal role of quality of life, particularly elucidated through the assessment of dysphagia and dysphonia, is progressively influencing the decision-making process. The current study aims to assess whether VITOM 3D could offer a comparable post-treatment quality of life to traditional approaches for patients with laryngeal cancer and oro-hypopharyngeal cancer. Methods: A case series of laryngeal cancer and oro-hypopharyngeal cancer patients treated either with an exoscopic-assisted surgical setup and with conventional treatments (transoral microsurgery and radio-chemotherapy) at the Otolaryngology Unit of IRCCS San Martino Hospital, Genoa, is presented. The post-treatment quality of life of the two cohorts were compared through the administration of the University of Washington Quality of Life Questionnaire, Voiceik Handicap Index-10, M.D. Anderson Dysphagia Inventory were administrated to both cohorts of patients. Results: In the laryngeal cancer group, a total of 79 patients were included. Of these, 50.1% underwent transoral exoscope-assisted surgery, while 49.9% underwent primary transoral microscopic-assisted surgical approach. No significant differences were observed in terms of the University of Washington Quality of Life Questionnaire and Voice Handicap Index-10 between the two subgroups. Conversely, in the oro-hypopharyngeal cancer group, 43 patients were included. Of these, 37.2% underwent primary transoral exoscope-assisted surgery, while 62.8% received (chemo)radiotherapy. No notable differences were reported in terms of the University of Washington Quality of Life Questionnaire and M.D. Anderson Dysphagia Inventory between the transoral exoscope-assisted surgery and (chemo)radiotherapy subgroups. Conclusions: Assessments of quality of life, conducted through the University of Washington Quality of Life Questionnaire questionnaire, dysphonia evaluations using the Voice Handicap Index-10, and dysphagia assessments employing the M.D. Anderson Dysphagia Inventory questionnaire, demonstrate analogous outcomes between conventional treatment modalities and transoral interventions utilizing the 3D exoscope.

9.
Head Neck ; 2024 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-39080964

RESUMEN

OBJECTIVE: This study aims to evaluate the efficacy of the profunda artery perforator (PAP) flap in head and neck reconstruction. METHODS: A single arm meta-analysis was performed for flap survival rate (primary outcome), reoperation for major complication, and overall complication rates (secondary outcomes). RESULTS: The search strategy yielded a total of 295 potentially relevant publications, of which 13 were included. A total of 305 patients (males: 80.8%, n = 232/281), with a median age of 56.1 years (n = 305/305; 95% CI 53.9-63), who underwent a total of 307 PAP flap reconstructions for head and neck defects were included. Flap survival rate was 100% (n = 306/307; 95% CI 99.6%-100%), with a reoperation rate for major complications of 3.7% (n = 15/307; 95% CI 1.85%-6.1%) and an overall complication rate of 26.5% (n = 92/307; 95% CI 15.7%-38.9%). Notable postoperative complications included wound dehiscence (n = 15/307, 4.9%), delayed healing (n = 14/307, 4.6%), and wound infection (n = 12/307, 3.9%). Partial flap necrosis and hematoma occurred in 2.6% of cases (n = 8/307), while arterial and venous thrombosis were documented in 0.7% (n = 2/307) and 1.3%, respectively (n = 4/307). CONCLUSION: The application of the PAP flap in head and neck reconstructions showed several favorable aspects, such as an exceptionally low flap failure rate, versatility in achieving variable dimensions, and a relatively low incidence of complications. PAP flap might be considered as a compelling alternative to the traditionally employed soft tissue free flaps in head and neck reconstruction.

10.
Laryngoscope ; 134(7): 3230-3237, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38407326

RESUMEN

OBJECTIVE: The prognostic value of depth of invasion (DOI) in oral squamous cell cancer carcinoma and cutaneous melanoma is well established, while there is a lack of reports investigating the role of DOI in laryngeal cancer. This study aims to explore the association of glottic cancer DOI with other established pathological risk factors and nodal metastasis and evaluate the feasibility of measuring DOI preoperatively using tomographic imaging. METHODS: The medical records of glottic cancer patients treated between 2015 and 2020 in a single tertiary referral center were screened retrospectively. Pathologically measured DOI (pDOI) value was also reviewed and registered. Preoperative computer tomography (CT) was used to obtain the radiological DOI (rDOI) measured by two dedicated radiologists. Their inter-rated agreement was assessed and the correlation between pDOI and rDOI was calculated. pDOI association with the main pathology report features was assessed with univariable analysis. Cox univariable and multivariable models were used to explore the role of pDOI on survival. RESULTS: Ninety-one patients had pDOI data available, of which 59 also had rDOI data. A strong concordance between the two radiologists was found (concordance correlation coefficient = 0.96); rDOI and pDOI were highly and significantly correlated (R = 0.85; p < 0.001). pDOI was significantly higher in patients with perineural invasion (PNI; p < 0.001), lymphovascular invasion (LVI; p < 0.001), and nodal metastasis (p < 0.001). pDOI was associated with disease-free survival at univariable analysis (p = 0.04) while it did not show a significant impact (p = 0.10) at multivariable analysis. CONCLUSION: Glottic carcinoma DOI correlates with PNI, LVI, and nodal metastasis and it can be reliably assessed in a preoperative setting using CT imaging. LEVEL OF EVIDENCE: 3 Laryngoscope, 134:3230-3237, 2024.


Asunto(s)
Glotis , Neoplasias Laríngeas , Invasividad Neoplásica , Tomografía Computarizada por Rayos X , Humanos , Neoplasias Laríngeas/patología , Neoplasias Laríngeas/cirugía , Neoplasias Laríngeas/diagnóstico por imagen , Neoplasias Laríngeas/mortalidad , Masculino , Femenino , Glotis/patología , Glotis/diagnóstico por imagen , Glotis/cirugía , Estudios Retrospectivos , Persona de Mediana Edad , Anciano , Pronóstico , Cuidados Preoperatorios/métodos , Estudios de Factibilidad , Metástasis Linfática/diagnóstico por imagen , Metástasis Linfática/patología , Anciano de 80 o más Años , Adulto
11.
Oncologist ; 17(11): 1430-8, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22956535

RESUMEN

BACKGROUND: The role of surgery for lung metastases (LM) secondary to colorectal cancer (CRC) remains controversial. The bulk of evidence is derived from single surgical series, hampering any definitive conclusions. The aim of this study was to compare the outcomes of CRC patients with LM submitted to surgery with those who were not. PATIENTS AND METHODS: Data from 409 patients with LM as the first evidence of advanced disease were extracted from a database of 1,411 patients. Patients were divided into three groups: G1, comprised of 155 patients with pulmonary and extrapulmonary metastases; G2, comprised of 104 patients with LM only and no surgery; G3, comprised of 50 patients with LM only and submitted to surgery. RESULTS: No difference in response rates emerged between G1 and G2. Median progression-free survival (PFS) times were: 10.3 months, 10.5 months, and 26.2 months for G1, G2, and G3, respectively. No difference in PFS times was observed between G1 and G2, whereas there was a statistically significant difference between G2 and G3. Median overall survival times were 24.2 months, 31.5 months, and 72.4 months, respectively. Survival times were longer in resected patients: 17 survived >5 years and three survived >10 years. In patients with LM only and no surgery, four survived for 5 years and none survived >10 years. CONCLUSIONS: Even though patients with resectable LM are more likely to be those with a better outcome, our study provides evidence suggesting an active role of surgery in improving survival outcomes in this patient subset.


Asunto(s)
Neoplasias Colorrectales/terapia , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/cirugía , Anciano , Neoplasias Colorrectales/tratamiento farmacológico , Neoplasias Colorrectales/mortalidad , Neoplasias Colorrectales/cirugía , Supervivencia sin Enfermedad , Femenino , Humanos , Neoplasias Hepáticas/mortalidad , Neoplasias Hepáticas/secundario , Neoplasias Hepáticas/cirugía , Neoplasias Pulmonares/tratamiento farmacológico , Neoplasias Pulmonares/mortalidad , Masculino , Persona de Mediana Edad , Análisis Multivariante , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Resultado del Tratamiento
12.
Cancers (Basel) ; 14(17)2022 Aug 27.
Artículo en Inglés | MEDLINE | ID: mdl-36077695

RESUMEN

Melanoma currently lacks validated blood-based biomarkers for monitoring and predicting treatment efficacy. Circulating tumor DNA (ctDNA), originating from tumor cells and detectable in plasma, has emerged as a possible biomarker in patients with metastatic melanoma. In this retrospective, single-center study, we collected 129 plasma samples from 79 patients with stage IIIB-IV melanoma as determined by the American Joint Committee on Cancer (AJCC, 8th edition). For the determination of ctDNA levels, we used eight different assays of droplet digital polymerase chain reaction (ddPCR) to detect the most common hotspot mutations in the BRAF and NRAS genes. The aim of the study was to investigate the association of the detectability of ctDNA at a non-prespecified time point in a patient's treatment with tumor progression, and to correlate ctDNA with commonly used biomarkers (protein S100, LDH, and CRP). Patients with detectable ctDNA progressed more frequently in PET-CT within 12 months than those without detectable ctDNA. Detectability of ctDNA was associated with shorter OS in univariate and multivariate analyses. ctDNA was detectable in a statistically significantly larger proportion of patients with distant metastases (79%) than in patients with no distant metastases or only intracranial metastases (32%). Elevated protein S100 and CRP correlated better with detectable ctDNA than LDH. This study supports the potential of ctDNA as a prognostic biomarker in patients with metastatic melanoma. However, additional prospective longitudinal studies with quantitative assessments of ctDNA are necessary to investigate the limitations and strengths of ctDNA as a biomarker.

13.
J Mol Diagn ; 23(7): 796-804, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33962053

RESUMEN

Real-time RT-PCR remains a gold standard in the detection of various viral diseases. In the coronavirus 2019 pandemic, multiple RT-PCR-based tests were developed to screen for viral infection. As an emergency response to increasing testing demand, we established a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) PCR diagnostics platform for which we compared different commercial and in-house RT-PCR protocols. Four commercial, one customized, and one in-house RT-PCR protocols were evaluated with 92 SARS-CoV-2-positive and 92 SARS-CoV-2-negative samples. Furthermore, economical and practical characteristics of these protocols were compared. In addition, a highly sensitive digital droplet PCR (ddPCR) method was developed, and application of RT-PCR and ddPCR methods on SARS-CoV-2 environmental samples was examined. Very low limits of detection (1 or 2 viral copies/µL), high sensitivities (93.6% to 97.8%), and high specificities (98.7% to 100%) for the tested RT-PCR protocols were found. Furthermore, the feasibility of downscaling two of the commercial protocols, which could optimize testing capacity, was demonstrated. Tested commercial and customized RT-PCR detection kits show very good and comparable sensitivity and specificity, and the kits could be further optimized for use on SARS-CoV-2 viral samples derived from human and surface swabbed samples.


Asunto(s)
Prueba de Ácido Nucleico para COVID-19/métodos , COVID-19/diagnóstico , COVID-19/epidemiología , Pandemias , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa/métodos , SARS-CoV-2/genética , COVID-19/virología , Reacciones Falso Negativas , Reacciones Falso Positivas , Estudios de Factibilidad , Humanos , ARN Viral/genética , ARN Viral/aislamiento & purificación , Sensibilidad y Especificidad , Teléfono Inteligente , Propiedades de Superficie , Suiza/epidemiología
14.
Hum Pathol ; 98: 64-73, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32088208

RESUMEN

Juvenile papillomatosis (JP), the so-called Swiss cheese disease, is a rare benign breast disease of young adults. An association (up to 28%) with breast cancer within the family of affected patients has been reported. A multinodular cystic breast mass lesion and calcifications characterizes JP in imaging studies. The histological picture is diverse and comprises multiple intraductal papillomas, usual ductal hyperplasia, ductectasias, perifocal sclerosing adenosis, and calcification. Patients with complete excision of JP lesions have an excellent follow-up; breast cancer develops only on a very low subset of patients. Molecular background of JP has not been investigated until now. In this study, we addressed mutational analysis of JP cases and correlated these results with follow-up and family history in context with a comprehensive review of the JP literature. We identified 13 cases fulfilling the criteria of JP. All patients were women with a median age of 38 years (26-50 years). Follow-up information was available for 11 of 13 patients. Sufficient paraffin-embedded tissue and good DNA quality for next-generation sequencing (NGS) was available for 10 patients. Paraffin blocks were microdissected in the area of intraductal proliferative disease; the tissue cores underwent NGS analysis using the Oncomine Comprehensive Panel. In 5 of 10 patients, we found PIK3CA mutations; in 2 of 10 patients, we found AKT1 mutations in known hot spot regions. Further mutations in MET, FGFR3, PTEN, ATM, NF1, and GNAS genes were detected in individual patients. Some of these mutations were present at high allele frequencies suggesting germ line mutations. Two of 3 patients with positive family history had PIK3CA mutation; one patient with positive family history had an AKT1 mutation. One patient who subsequently developed invasive ductal carcinoma in the contralateral breast possibly had a germ line ATM mutation. Our results confirm hot spot mutations in PIK3CA and AKT1 genes in JP associated with positive family history for breast cancer, although these mutations are not specific for JP. The genetic link between JP, positive family history, and subsequent risk of breast cancer needs to be analyzed in further studies.


Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias de la Mama/genética , Fosfatidilinositol 3-Quinasa Clase I/genética , Mutación , Papiloma/genética , Proteínas Proto-Oncogénicas c-akt/genética , Adulto , Edad de Inicio , Neoplasias de la Mama/patología , Neoplasias de la Mama/cirugía , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad , Herencia , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Persona de Mediana Edad , Papiloma/patología , Papiloma/cirugía , Linaje , Fenotipo
15.
Anticancer Res ; 28(5B): 3055-60, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-19031956

RESUMEN

BACKGROUND: There is no standard treatment for patients with advanced colorectal cancer (CRC) progressing after irinotecan and oxaliplatin treatment and having good performance status (PS). PATIENTS AND METHODS: We investigated gemcitabine 1,000 mg/m2 days 1, 8 and 15 q28d combined with protracted 5-fluorouracil continuous infusion at 200 mg/m2/day, in 37 consecutive patients progressing after oxaliplatin-irinotecan-containing chemotherapies. RESULTS: Partial response (PR) was achieved in 4 (10.8%) and disease stabilization (SD) in 19 (51.4%) cases (PR+SD: 62.2%). Median time to progression and survival were 4.2 and 8.9 months, respectively. Grade III toxicities were thrombocytopenia, neutropenia (in 3 patients) and mucositis (in 2 patients). Clinical benefit was observed in 18 patients (48.6% of the entire population; 64.3% of those patients with PS>0 at study entry). CONCLUSION: The combination of gemcitabine and 5-fluorouracil continuous infusion was found to be an active and manageable palliative regimen for heavily pre-treated patients with metastatic CRC.


Asunto(s)
Adenocarcinoma/tratamiento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Neoplasias Colorrectales/tratamiento farmacológico , Adulto , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Camptotecina/administración & dosificación , Camptotecina/análogos & derivados , Desoxicitidina/administración & dosificación , Desoxicitidina/efectos adversos , Desoxicitidina/análogos & derivados , Femenino , Fluorouracilo/administración & dosificación , Fluorouracilo/efectos adversos , Humanos , Infusiones Intravenosas , Irinotecán , Masculino , Persona de Mediana Edad , Compuestos Organoplatinos/administración & dosificación , Oxaliplatino , Gemcitabina
16.
Ann Med Surg (Lond) ; 24: 53-60, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29158895

RESUMEN

INTRODUCTION: Nowadays, liposuction is the most frequently performed aesthetic surgery procedure in Western Countries. This technique has had rapid development since the 1970s, when it was experimented for the first time by A. and G. Fischer. It is currently widely used in clinical practice for many different situations in aesthetic, reconstructive and functional fields. MATERIALS AND METHODS: This review aims to describe the historical evolution of liposuction by analyzing the transformation of the method in function of the introduction of innovative ideas or instruments. We have also focused on reporting the major clinical applications of this surgical technique, applicable to almost the entire body surface. We finally analyzed the complications, both major and minor, associated with this surgical technique. RESULTS: Liposuction is mainly used to correct deep and superficial fat accumulations and remodel the body contour. It has become an essential complementary technique to enhance the aesthetic result of many other aesthetic procedures such as reduction mammoplasty, abdominoplasty, brachioplasty, thigh lift and post bariatric body contouring. However, it can be largely used for the treatment of innumerable pathologies in reconstructive surgery such as lipomas, lipedema, lipodystrophies, pneudogynecomastia and gynecomastia, macromastia e gigantomastia, lymphedema and many others. The complication rate is very low, especially when compared with conventional excisional surgery and the major, complications are generally associated with improper performance of the technique and poor patient management before and after surgery. CONCLUSION: Liposuction is a safe, simple and effective method of body contouring. It has enormous potential for its application in ablative and reconstructive surgery, far from the most common aesthetic processes with a very low complication rate.

17.
Ann Med Surg (Lond) ; 24: 65-73, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29188051

RESUMEN

INTRODUCTION: Adipose grafting has undergone significant changes over time. Many different techniques have been followed by trying to improve the quality of the lipoaspirate and the survival of the fat graft after implantation. MATERIAL AND METHODS: The purpose of this review is to analyse the historical evolution of the surgical harvesting and implant technique, describing the changes that have brought significant improvements, revolutionizing the aesthetic and functional results obtainable. RESULTS: A standard fat grafting technique is commonly performed in three stages: harvesting of adipose tissue from a suitable donor site; processing of the lipoaspirate to eliminate cellular debris, acellular oil and excess of infiltrated solution, reinjection of the purified adipose tissue. The most widely used surgical technique was described by Coleman. He modified and corrected the methods and results of his predecessors and proposed an atraumatic protocol for the treatment of adipose tissue.He reported that the key to successful fat grafting lies in the technique. In addition, he noticed that adipose tissue was not only a good filler, but improved the quality of the skin. In fact, fat grafts demonstrated to have not only dermal filler properties but also regenerative potential owing to the presence of stem cells in fat tissue. CONCLUSION: Adipose tissue, actually, is the closest to the ideal filler because it is readily available; easily obtainable, with low donor-site morbidity; repeatable; inexpensive; versatile; and biocompatible. There is an abundance of literature supporting the efficacy of fat grafting in both aesthetic and reconstructive cases. Recent studies have shown the utility of adipose-derived stem cells in the improvement of wound healing, describing their ability to regenerate soft tissues and their remodelling capacity provided by their unique cytokine and growth factor profiles.Despite ongoing concerns about survival and longevity of fat grafts after implantation and unpredictability of long-term outcome, fat has been successfully used as a filler in many differ clinic situation.

18.
Biomed Res Int ; 2017: 1791546, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29376067

RESUMEN

OBJECTIVE: Breast cancer, the most common malignancy in women, comprises 18% of all female cancers. Mastectomy is an essential intervention to save lives, but it can destroy one's body image, causing both physical and psychological trauma. Reconstruction is an important step in restoring patient quality of life after the mutilating treatment. MATERIAL AND METHODS: Tissue expanders and implants are now commonly used in breast reconstruction. Autologous reconstruction allows a better aesthetic result; however, many patients prefer implant reconstruction due to the shorter operation time and lack of donor site morbidity. Moreover, this reconstruction strategy is safe and can be performed in patients with multiple health problems. Tissue-expander reconstruction is conventionally performed as a two-stage procedure starting immediately after mammary gland removal. RESULTS: Mastectomy is a destructive but essential intervention for women with breast cancer. Tissue expansion breast reconstruction is a safe, reliable, and efficacious procedure with considerable psychological benefits since it provides a healthy body image. CONCLUSION: This article focuses on this surgical technique and how to achieve the best reconstruction possible.


Asunto(s)
Mamoplastia/métodos , Animales , Neoplasias de la Mama/cirugía , Femenino , Humanos , Mastectomía/métodos , Satisfacción del Paciente , Calidad de Vida , Dispositivos de Expansión Tisular
19.
Am J Clin Oncol ; 40(1): 86-90, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-25089531

RESUMEN

OBJECTIVES: Recurrent or metastatic salivary gland malignancies (RMSGM) are not suitable for conventional treatment. We report the clinical outcomes of 60 patients affected by RMSGM who were treated with DDP+VNB as a first-line or second-line scheme. MATERIALS AND METHODS: Sixty patients between 2001 and 2008, affected by RMSGM were enrolled in this cohort prospective study; they received the following first-line or second-line chemotherapy (CT), for a maximum of 6 cycles: DDP at 80 mg/m on day 1+VNB at 25 mg/m on day 1 and 8, at 3-week intervals. RESULTS: Seventy percent of the patients received DDP+VNB as the first-line CT and 30% of them received it as the second-line CT. After 5 cycles (median) of first-line DDP+VNB, 7% of the patients achieved a complete response, 24% achieved a partial response, 33% achieved an no change, and 36% achieved a PD. After 4 cycles (median) of second-line CT, 0 patients achieved a CR, 5% achieved a PR, 33% achieved an NC, and 62% achieved a PD. The median overall survival period was 10 months for those who received the first-line CT and 4 months for those who received the second-line CT. The best ORR (54%) and median survival were observed, during first-line treatment, in adenocarcinomas, whereas undifferentiated tumours were unresponsive with a poor median survival (4.6 mo). CONCLUSIONS: Adenocarcinomas show the best response and prognosis with DDP+VNB scheme that seems to be an effective and well-tolerated first-line CT for RMSGM, whereas it has only low palliative activity as a second-line CT.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Cisplatino/administración & dosificación , Recurrencia Local de Neoplasia/tratamiento farmacológico , Neoplasias de las Glándulas Salivales/tratamiento farmacológico , Neoplasias de las Glándulas Salivales/secundario , Vinblastina/análogos & derivados , Adulto , Anciano , Carcinoma de Células Escamosas , Femenino , Neoplasias de Cabeza y Cuello , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Carcinoma de Células Escamosas de Cabeza y Cuello , Resultado del Tratamiento , Vinblastina/administración & dosificación , Vinorelbina , Adulto Joven
20.
Oncotarget ; 8(9): 14794-14805, 2017 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-27582547

RESUMEN

One TCGA subgroup of endometrial cancer (EC) is characterised by extensive genomic DNA copy number alterations. CCNE1 located at 19q12 is frequently amplified in EC and a target for anti-cancer therapy. The relevance of URI, also located at 19q12, is unknown. To evaluate the prevalence of 19q12 (CCNE1/URI) in EC, we investigated different histologic types by in situ hybridisation (ISH) and copy number assay. We applied a previously established 19q12 ISH for the detection of CCNE1/URI copy numbers in EC (n = 270) using conventional bright field microscopy. In a subset (n = 21), 19q12 amplification status was validated by OncoScan assay. Manual ISH was controlled by a recently developed computational ISHProfiler algorithm. Associations of 19q12 status with Cyclin E1, URI and p53 expression, and clinico-pathological parameters were tested.Amplification of 19q12 (CCNE1/URI) was found in 10.4% (28/270) and was significantly associated with type II EC (high grade and non-endometrioid; p < 0.0001), advanced FIGO stage (p = 0.001), high Cyclin E1 expression (p = 0.008) and aberrant p53 expression (p = 0.04). 19q12 ISH data were confirmed by OncoScan and computational ISHProfiler techniques. The 19q12 in situ hybridisation is a feasible and robust biomarker assay in molecular pathology. Amplification of CCNE1/URI predominantly occurred in type II endometrial cancer. Prospective clinical trials are warranted to assess the utility of combined 19q12 amplification and Cyclin E1/URI protein expression analysis for the prediction of therapeutic response to chemotherapy and/or cyclin-dependent kinase inhibitors in patients with endometrial cancer.


Asunto(s)
Cromosomas Humanos Par 19/genética , Ciclina E/genética , Neoplasias Endometriales/genética , Amplificación de Genes , Hibridación in Situ/métodos , Péptidos y Proteínas de Señalización Intracelular/genética , Proteínas Oncogénicas/genética , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Biología Computacional/métodos , Ciclina E/metabolismo , Neoplasias Endometriales/metabolismo , Neoplasias Endometriales/patología , Neoplasias Endometriales/terapia , Estudios de Factibilidad , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Inmunohistoquímica , Péptidos y Proteínas de Señalización Intracelular/metabolismo , Estimación de Kaplan-Meier , Clasificación del Tumor , Estadificación de Neoplasias , Proteínas Oncogénicas/metabolismo , Evaluación de Resultado en la Atención de Salud , Proteínas Represoras , Reproducibilidad de los Resultados , Proteína p53 Supresora de Tumor/genética , Proteína p53 Supresora de Tumor/metabolismo
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