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1.
Front Oncol ; 14: 1320541, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38496756

RESUMEN

Introduction: Malignant ectomesenchymoma (MEM) is a soft tissue tumour, consisting of both malignant neuroectodermal elements and one or more mesenchymal elements. Case presentation and review of the literature: Here we describe the case of a 6-months-old male, previously treated in another hospital for abdominal rhabdomyosarcoma (RMS). Histological re-examination demonstrated that the tumour had mesenchymal and neuroectodermal elements components, with a new diagnosis of abdominal-pelvic MEM. A Next-Generation Sequencing (NGS) analysis was performed on a surgical tumour specimen and revealed the presence of a somatic mutation, already reported in MEM cases. We carried out a review of the literature and we found 33 new cases of MEM since the last review. We reported the clinic-pathologic features of new cases of MEM, highlighting the role of molecular studies in supporting the diagnosis of this ambiguous tumours. Conclusion: We promote the importance of a diagnosis based on an integrative morpho-molecular approach, that routinely include molecular analysis and the use of bioinformatic mutation detection tools, to support diagnostic and therapeutical queries and to highlight tumour biology and behaviour.

2.
J Histochem Cytochem ; 71(7): 377-385, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37357741

RESUMEN

Synovial sarcoma is a rare malignant mesenchymal neoplasm mostly affecting young adults, characterized by a specific translocation which results in the fusion of the SS18 gene on chromosome 18 with one of the three highly homologous SSX genes on chromosome X. Its morphological diagnosis, especially in monophasic or poorly differentiated variants, can be challenging because histological features often overlap with other malignant mesenchymal tumors. Until recently, the differential diagnosis mostly relied on the use of cytogenetic or molecular analyses to detect the specific t(X;18)(p11;q11) translocation, thus virtually restricting its correct identification to referral centers with a high histological and molecular pathology workflow. The recently commercialized highly sensitive and fusion-specific SS18-SSX antibody has significantly improved the approach to these tumors, representing a relatively cheap and easy to access tool for synovial sarcoma diagnosis. Through a retrospective analysis of 79 synovial sarcomas and histological mimickers, this study confirms the usefulness of the SS18-SSX antibody in the diagnosis of synovial sarcoma, particularly focusing on its application in the pathological response evaluation after neoadjuvant treatment as well as its time- and cost-saving advantages. Finally, we here propose a new diagnostic algorithm to apply into the routine practice.


Asunto(s)
Proteínas Represoras , Sarcoma Sinovial , Adulto Joven , Humanos , Proteínas Represoras/genética , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/genética , Sarcoma Sinovial/patología , Estudios Retrospectivos , Proteínas de Fusión Oncogénica/genética , Proteínas Proto-Oncogénicas/genética , Anticuerpos , Algoritmos
3.
Virchows Arch ; 483(2): 245-250, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37079094

RESUMEN

Solitary fibrous tumor is a mesenchymal tumor of intermediate malignant potential characterized by a recurrent NAB2::STAT6 fusion and STAT6 nuclear expression. Primary thyroid solitary fibrous tumor is relatively uncommon, with 45 cases described in the English literature to date. Although its histologic features are characteristic, its diagnosis in the thyroid can be problematic, especially in small biopsies or cytology specimens. We herein present three new cases of thyroid solitary fibrous tumor, one of which is malignant, with new insights on the morphological spectrum and malignant potential of this tumor. We additionally provide a review of the literature with a focus on the clues and challenges of a preoperative cytological diagnosis of this tumor, which can nowadays be supported by STAT6 nuclear expression, when appropriately suspected.


Asunto(s)
Hemangiopericitoma , Tumores Fibrosos Solitarios , Humanos , Glándula Tiroides/patología , Tumores Fibrosos Solitarios/patología , Biopsia , Factor de Transcripción STAT6/genética , Biomarcadores de Tumor/análisis
4.
Hip Int ; 30(2_suppl): 66-71, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33267687

RESUMEN

PURPOSE: Aim of this study was to evaluate acetabular bone vitality during revision hip arthroplasty and to compare the bone quality between revision and primary acetabular arthroplasty. METHODS: During primary and revision total hip arthroplasty surgeries, biopsies were taken from the acetabulum after reaming. The samples (osteochondral cylinders of approximately ⩽1 cm long and 3 mm thickness), after removing the mineral component, were cut longitudinally with a thickness section of 5 µm and colored with hematoxylin-eosin dichromic dye and then evaluated histologically by optical microscopy with 40× magnification. Preoperative radiographs were evaluated. RESULTS: According to inclusion and exclusion criteria, 14 patients formed the revision group patients (mean age: 67.9 years, average time before revision 8.8 years, SD ± 7.06) and 5 patients formed the control primary group (mean age: 61.4 years). The bone quality of the revision group was generally poorer than the primary group, while similar vitality and bone quality has been found between septic and aseptic group. Variables such as age, gender and BMI did not significantly contribute to define bone quality classes. CONCLUSIONS: The study confirms the differences in quality and bone vitality between cases and controls and the necessity to find strategies to improve the osteointegrative processes in revision arthroplasties.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Prótesis de Cadera , Acetábulo/diagnóstico por imagen , Acetábulo/cirugía , Anciano , Artroplastia de Reemplazo de Cadera/efectos adversos , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Falla de Prótesis , Reoperación , Estudios Retrospectivos
5.
Artículo en Inglés | MEDLINE | ID: mdl-33260631

RESUMEN

Subcutaneous masses smaller than 5 cm can be malignant, in contrast with the international guidelines. Ultrasound (US) and magnetic resonance imaging (MRI) are useful to distinguish a potentially malignant mass from the numerous benign soft tissue (ST) lesions. Contrast-enhanced ultrasound (CEUS) was applied in ST tumors, without distinguishing the subcutaneous from the deep lesions. We evaluated CEUS and MRI accuracy in comparison to histology in differentiating malignant from nonmalignant superficial ST masses, 50% smaller than 5 cm. Sensitivity, specificity, and positive and negative predictive values (PPV, NPV) with their 95% confidence intervals (CI) were calculated. Of malignant cases, 44.4% measured ≤5 cm. At univariate analysis, no statistically significant differences emerged between benign and malignant tumors in relation with clinical characteristics, except for relationship with the deep fascia (p = 0.048). MRI accuracy: sensitivity 52.8% (CI 37.0, 68.0), specificity 74.1% (CI 55.3, 86.8), PPV 73.1% (CI 53.9, 86.3), and NPV 54.1% (CI 38.4, 69.0). CEUS accuracy: sensitivity 75% (CI 58.9, 86.3), specificity 37% (CI 21.5, 55.8), PPV 61.4% (CI 46.6, 74.3), and NPV 52.6% (CI 31.7, 72.7). CEUS showed a sensitivity higher than MRI, whereas PPV and NPV were comparable. Also, masses measuring less than 5 cm can be malignant and referral criteria for centralization could be revised.


Asunto(s)
Sarcoma , Neoplasias de los Tejidos Blandos , Ultrasonografía , Adulto , Anciano , Medios de Contraste , Diagnóstico Diferencial , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Sarcoma/diagnóstico por imagen , Sensibilidad y Especificidad , Neoplasias de los Tejidos Blandos/diagnóstico por imagen
6.
Cancer Immunol Immunother ; 69(9): 1905-1916, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32377818

RESUMEN

Giant cell tumor of bone (GCTB) is a locally aggressive and rarely metastatic tumor, with a relatively unpredictable clinical course. A retrospective series of 46 GCTB and a control group of 24 aneurysmal bone cysts (ABC) were selected with the aim of investigating the PD-L1 expression levels and immune-related gene expression profile, in correlation with clinicopathological features. PD-L1 and Ki67 were immunohistochemically tested in each case. Furthermore, comprehensive molecular analyses were carried out using NanoString technology and nCounter PanCancer Immune Profiling Panel, and the gene expression results were correlated with clinicopathological characteristics. PD-L1 expression was observed in 13/46 (28.3%) GCTB (and in 1/24, 4.2%, control ABC, only) and associated with a shorter disease free interval according to univariate analysis. Moreover, in PD-L1-positive lesions, three genes (CD27, CD6 and IL10) were significantly upregulated (p < 0.01), while two were downregulated (LCK and TLR8, showing borderline significance, p = 0.06). Interestingly, these genes can be related to maturation and immune tolerance of bone tissue microenvironment, suggesting a more immature/anergic phenotype of giant cell tumors. Our findings suggest that PD-L1 immunoreactivity may help to select GCTB patients with a higher risk of recurrence who could potentially benefit from immune checkpoint blockade.


Asunto(s)
Antígeno B7-H1/genética , Neoplasias Óseas/genética , Neoplasias Óseas/inmunología , Tumores de Células Gigantes/genética , Tumores de Células Gigantes/inmunología , Transcriptoma/inmunología , Adolescente , Adulto , Anciano , Biomarcadores de Tumor/genética , Neoplasias Óseas/patología , Huesos/patología , Regulación hacia Abajo/genética , Femenino , Tumores de Células Gigantes/patología , Humanos , Tolerancia Inmunológica/genética , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/genética , Recurrencia Local de Neoplasia/patología , Pronóstico , Regulación hacia Arriba/genética , Adulto Joven
7.
J Surg Oncol ; 121(4): 630-637, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31957034

RESUMEN

BACKGROUND AND OBJECTIVES: Limb salvage surgery remains the standard treatment in bone and soft tissue tumors. Toronto Extremity Salvage Score (TESS) is the most used quality of life measure. Our objective was to perform cross-cultural adaptation and validation in Italian, testing test-retest reliability, construct validity, and responsiveness. METHODS: We interviewed patients already treated for content validity. A total of 124 patients completed TESS and other questionnaires presurgery, at 3 months, 3 months + 2 weeks, and 6 months follow-up. We calculated intraclass correlation coefficients (ICCs) for reliability, associations with Pearson's r, and change over time with paired T tests. RESULTS: A new item regarding touch-screen devices was added to the upper extremity (UE) questionnaire. ICC resulted of 0.99 for lower extremity (LE) and 0.98 for UE patients, Pearson's r between TESS and Musculoskeletal Tumor Society was .66 and .64, EuroQol-5D-5L r was .62 and .61, and r between TESS and short form-36 physical function subscale was .76 and .71 for LE and UE groups, respectively. Paired T test results were statistically significant to detect change over time (0.03, 0.04, and 0.04 for LE groups and 0.03, 0.01, and 0.04 for UE groups). CONCLUSION: The Italian version of TESS can be used for the bone and soft tissue sarcoma population in clinical trials in Italy and with Italian speaking patients abroad to ensure patients' perspectives for efficacy and efficiency of treatments.


Asunto(s)
Neoplasias Óseas/psicología , Neoplasias Óseas/cirugía , Recuperación del Miembro/psicología , Osteosarcoma/psicología , Osteosarcoma/cirugía , Sarcoma/psicología , Sarcoma/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias Óseas/patología , Comparación Transcultural , Extremidades/patología , Extremidades/cirugía , Femenino , Humanos , Italia , Lenguaje , Recuperación del Miembro/métodos , Masculino , Persona de Mediana Edad , Osteosarcoma/patología , Calidad de Vida , Reproducibilidad de los Resultados , Sarcoma/patología , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Traducción , Adulto Joven
8.
Radiol Med ; 122(11): 871-879, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28689283

RESUMEN

PURPOSE: To evaluate whether apparent diffusion coefficient (ADC) of diffusion-weighted imaging (DWI) is able to investigate the histological features of soft tissue tumours. METHODS: We reviewed MRIs of soft tissue tumours performed from 2012 to 2015 to calculate the average ADCs. We included 46 patients (27 male; mean age: 57 years, range 12-85 years) with histologically proven soft tissue tumours (10 benign, 2 intermediate 34 malignant) grouped into eight tumour type classes. An experienced pathologist assigned a semi-quantitative cellularity score (very high, high, medium and low) and tumour grading. The t test, ANOVA and linear regression were used to correlate ADC with clinicopathological data. Approximate receiver operating characteristic curves were created to predict possible uses of ADC to differentiate benign from malignant tumours. RESULTS: There was a significant difference (p < 0.01) in ADCs between these three groups excluding myxoid sarcomas. A significant difference was also evident between the tumour type classes (p < 0.001), grade II and III myxoid lesions (p < 0.05), tumour grading classes (p < 0.001) and cellularity scores classes (p < 0.001), with the lowest ADCs in the very high cellularity. While the linear regression analysis showed a significant relationship between ADC and tumour cellularity (r = 0.590, p ≤ 0.05) and grading (r = 0.437, p ≤ 0.05), no significant relationship was found with age, gender, tumour size and histological subtype. An optimal cut-off ADC value of 1.45 × 10-3 mm2/s with 76.8% accuracy was found to differentiate benign from malignant tumours. CONCLUSIONS: DWI may offer adjunctive information about soft tissue tumours, but its clinical role is still to be defined.


Asunto(s)
Imagen de Difusión por Resonancia Magnética/métodos , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Neoplasias de los Tejidos Blandos/patología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biopsia , Niño , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Clasificación del Tumor
9.
Eur Radiol ; 26(7): 2400-8, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26449561

RESUMEN

OBJECTIVES: Soft tissue tumours (STT) require accurate diagnosis in order to identify potential malignancies. Preoperative planning is fundamental to avoid inadequate treatments. The role of contrast-enhanced computed tomography (CT) for local staging remains incompletely assessed. Aims of the study were to evaluate CT accuracy in discriminating active from aggressive tumours compared to histology and evaluate the role of CT angiography (CTA) in surgical planning. MATERIALS AND METHODS: This retrospective cohort series of 88 cases from 1200 patients (7 %) was locally studied by contrast-enhanced CT and CTA in a referral centre: 74 malignant tumours, 14 benign lesions. Contrast-enhancement patterns and relationship of the mass with major vessels and bone were compared with histology on surgically excised samples. Sensitivity, specificity, positive and negative predictive values (PPV, NPV) were evaluated in discriminating active from aggressive tumours. RESULTS: Sensitivity in differentiating aggressive tumours from active lesions was 89 %, specificity 84 %, PPV 90 %, NPV 82 %. The relationship between mass and major vessels/bone was fundamental for surgical strategy respectively in 40 % and in 58 % of malignant tumours. CONCLUSION: Contrast-enhanced CT and CTA are effective in differentiating aggressive masses from active lesions in soft tissue and in depicting the relationship between tumour and adjacent bones and major vessels. KEY POINTS: • Accurate delineation of vascular and bony involvement preoperatively is fundamental for a correct resection. • CT plays a critical role in differential diagnosis of soft tissue masses. • Contrast-enhanced CT and CT angiography are helpful in depicting tumoral vascular involvement. • CT is optimal for characterization of bone involvement in soft tissue malignancies.


Asunto(s)
Medios de Contraste , Cuidados Preoperatorios/métodos , Intensificación de Imagen Radiográfica/métodos , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Estudios de Cohortes , Angiografía por Tomografía Computarizada/métodos , Diagnóstico Diferencial , Extremidades/diagnóstico por imagen , Extremidades/cirugía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad , Neoplasias de los Tejidos Blandos/cirugía , Adulto Joven
10.
Eur J Radiol ; 84(1): 142-150, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25454097

RESUMEN

INTRODUCTION: Musculoskeletal Soft Tissue Tumours (STT) are frequent heterogeneous lesions. Guidelines consider a mass larger than 5 cm and deep with respect to the deep fascia potentially malignant. Contrast Enhanced Ultrasound (CEUS) can detect both vascularity and tumour neoangiogenesis. We hypothesised that perfusion patterns and vascularisation time could improve the accuracy of CEUS in discriminating malignant tumours from benign lesions. MATERIALS AND METHODS: 216 STT were studied: 40% benign lesions, 60% malignant tumours, 56% in the lower limbs. Seven CEUS perfusion patterns and three types of vascularisation (arterial-venous uptake, absence of uptake) were applied. Accuracy was evaluated by comparing imaging with the histological diagnosis. Univariate and multivariate analysis, Chi-square test and t-test for independent variables were applied; significance was set at p<0.05 level, 95% computed CI. RESULTS: CEUS pattern 6 (inhomogeneous perfusion), arterial uptake and location in the lower limb were associated with high risk of malignancy. CEUS pattern has PPV 77%, rapidity of vascularisation PPV 69%; location in the limbs is the most sensitive indicator, but NPV 52%, PPV 65%. The combination of CEUS-pattern and vascularisation has 74% PPV, 60% NPV, 70% sensitivity. No correlation with size and location in relation to the deep fascia was found. CONCLUSION: US with CEUS qualitative analysis could be an accurate technique to identify potentially malignant STT, for which second line imaging and biopsy are indicated in Referral Centers. Intense inhomogeneous enhancement with avascular areas and rapid vascularisation time could be useful in discriminating benign from malignant SST, overall when the lower limbs are involved.


Asunto(s)
Medios de Contraste , Aumento de la Imagen/métodos , Enfermedades Musculoesqueléticas/diagnóstico por imagen , Neovascularización Patológica/diagnóstico por imagen , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedades Musculoesqueléticas/complicaciones , Neovascularización Patológica/complicaciones , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Neoplasias de los Tejidos Blandos/complicaciones , Ultrasonografía
11.
J Clin Oncol ; 30(17): 2112-8, 2012 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-22564997

RESUMEN

PURPOSE: We compared two chemotherapy regimens that included methotrexate (MTX), cisplatin (CDP), and doxorubicin (ADM) with or without ifosfamide (IFO) in patients with nonmetastatic osteosarcoma of the extremity. PATIENTS AND METHODS: Patients age ≤ 40 years randomly received regimens with the same cumulative doses of drugs (ADM 420 mg/m(2), MTX 120 g/m(2), CDP 600 mg/m(2), and IFO 30 g/m(2)) but with different durations (arm A, 44 weeks; arm B, 34 weeks). IFO was given postoperatively when pathologic response to MTX-CDP-ADM was poor (arm A) or given in the primary phase of chemotherapy with MTX-CDP-ADM (arm B). End points of the study included pathologic response to preoperative chemotherapy, toxicity, and survival. Given the feasibility of accrual, the statistical plan only permitted detection of a 15% difference in 5-year overall survival (OS). RESULTS: From April 2001 to December 2006, 246 patients were enrolled. Two hundred thirty patients (94%) underwent limb salvage surgery (arm A, 92%; arm B, 96%; P = .5). Chemotherapy-induced necrosis was good in 45% of patients (48% in arm A, 42% in arm B; P = .3). Four patients died of treatment-related toxicity (arm A, n = 1; arm B, n = 3). A significantly higher incidence of hematologic toxicity was reported in arm B. With a median follow-up of 66 months (range, 1 to 104 months), 5-year OS and event-free survival (EFS) rates were not significantly different between arm A and arm B, with OS being 73% (95% CI, 65% to 81%) in arm A and 74% (95% CI, 66% to 82%) in arm B and EFS being 64% (95% CI, 56% to 73%) in arm A and 55% (95% CI, 46% to 64%) in arm B. CONCLUSION: IFO added to MTX, CDP, and ADM from the preoperative phase does not improve the good responder rate and increases hematologic toxicity. IFO should only be considered in patients who have a poor histologic response to MTX, CDP, and ADM.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Óseas/tratamiento farmacológico , Quimioterapia Adyuvante/métodos , Cisplatino/administración & dosificación , Doxorrubicina/administración & dosificación , Ifosfamida/administración & dosificación , Metotrexato/administración & dosificación , Osteosarcoma/tratamiento farmacológico , Adolescente , Adulto , Niño , Preescolar , Supervivencia sin Enfermedad , Femenino , Fémur/patología , Humanos , Húmero/patología , Masculino , Tibia/patología
12.
J Craniofac Surg ; 23(1): 153-7, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22337395

RESUMEN

Improvements in treatments available for oncohematologic diseases have made it possible to treat patients at more advanced stages of the disease and thus at greater risk of fungal, bacterial, and viral infections; these may be extensive and have aggressive evolution. In particular, chemotherapy at high doses and allogenic bone marrow transplant expose patients to an increased risk of infection, especially because of the period of aplasia and the condition of immune depression subsequent to the procedure. We presented a case of a 15-year-old adolescent girl diagnosed with combined relapse of acute lymphoblastic leukemia 2 years after completion of first-line chemotherapy that, at 120 days after transplant, erosive lesions of the palatal mucosa at the left hemipalate in the area adjacent to tooth 2.7 were detected, of approximately 2 mm in size. These gave rise to an orosinus communication. Various therapeutic possibilities are examined. These cases are not frequent. Diseases and their related complications require an in-depth knowledge, on the part of the stomatologist, to recognize the early signs of involvement of the oral cavity and, on the part of the oral surgeon, to decide the most appropriate therapeutic strategy.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Sinusitis Maxilar/microbiología , Fístula Oroantral/microbiología , Complicaciones Posoperatorias , Infecciones por Pseudomonas/diagnóstico , Adolescente , Citomegalovirus/fisiología , Infecciones por Citomegalovirus/diagnóstico , Enterococcus faecium/fisiología , Resultado Fatal , Femenino , Enfermedad Injerto contra Huésped/etiología , Infecciones por Bacterias Grampositivas/diagnóstico , Humanos , Obturadores Palatinos , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/cirugía , Acondicionamiento Pretrasplante/métodos , Activación Viral/fisiología
13.
Eur Radiol ; 20(11): 2740-8, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20582701

RESUMEN

OBJECTIVE: Percutaneous biopsies are gaining acceptance in the diagnosis of soft-tissue tumours. Sampling in the most representative area is not easy in sarcomas of huge dimension. We hypothesised that ultrasound (US) contrast medium could identify the representative area for focus core-needle biopsy (CNB) METHODS: This is a retrospective cohort series of 115 soft-tissue masses treated from January 2007 to November 2008. Accuracy of US-guided CNB after contrast-enhanced US (CEUS) was determined by comparing the histology of the biopsy with the definitive diagnosis in 105 surgically excised samples (42 benign, 63 malignant) and with the expected outcome in the remaining ten malignant cases not surgically treated. A myxoid component was present in 21 sarcomas (34.4%). RESULTS: Of samples, 94.8% were adequate for diagnosis with 97.1% sensitivity and 92.5% specificity. Sensitivity and specificity in specific histopathological subgroupings were 100%, and in grading definition they were 100% and 96.8%. DISCUSSION: US-guided CNB is safe and effective. US contrast medium depicts tumour vascular supply and identifies the representative area(s) for sampling. Sensitivity and specificity are also high in subgrouping and grading, including myxoid types. Discussion about biopsy is part of the essential multidisciplinary strategy for these tumours.


Asunto(s)
Biopsia con Aguja , Medios de Contraste , Fosfolípidos , Neoplasias de los Tejidos Blandos/patología , Hexafluoruro de Azufre , Ultrasonografía Intervencional , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Sarcoma/diagnóstico por imagen , Sarcoma/patología , Sensibilidad y Especificidad , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Adulto Joven
14.
J Clin Invest ; 119(8): 2366-78, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-19620785

RESUMEN

Many microRNAs (miRNAs), posttranscriptional regulators of numerous cellular processes and developmental events, are downregulated in tumors. However, their role in tumorigenesis remains largely unknown. In this work, we examined the role of the muscle-specific miRNAs miR-1 and miR-206 in human rhabdomyosarcoma (RMS), a soft tissue sarcoma thought to arise from skeletal muscle progenitors. We have shown that miR-1 was barely detectable in primary RMS of both the embryonal and alveolar subtypes and that both miR-1 and miR-206 failed to be induced in RMS cell lines upon serum deprivation. Moreover, reexpression of miR-206 in RMS cells promoted myogenic differentiation and blocked tumor growth in xenografted mice by switching the global mRNA expression profile to one that resembled mature muscle. Finally, we showed that the product of the MET proto-oncogene, the Met tyrosine-kinase receptor, which is overexpressed in RMS and has been implicated in RMS pathogenesis, was downregulated in murine satellite cells by miR-206 at the onset of normal myogenesis. Thus, failure of posttranscriptional modulation may underlie Met overexpression in RMS and other types of cancer. We propose that tissue-specific miRNAs such as miR-1 and miR-206, given their ability to modulate hundreds of transcripts and to act as nontoxic differentiating agents, may override the genomic heterogeneity of solid tumors and ultimately hold greater therapeutic potential than single gene-directed drugs.


Asunto(s)
MicroARNs/fisiología , Desarrollo de Músculos/fisiología , Rabdomiosarcoma/prevención & control , Animales , Ciclo Celular , Diferenciación Celular , Línea Celular Tumoral , Humanos , Ratones , MicroARNs/genética , Proto-Oncogenes Mas , Proteínas Proto-Oncogénicas/antagonistas & inhibidores , Proteínas Proto-Oncogénicas/fisiología , Proteínas Proto-Oncogénicas c-met , Receptores de Factores de Crecimiento/antagonistas & inhibidores , Receptores de Factores de Crecimiento/fisiología , Rabdomiosarcoma/genética , Rabdomiosarcoma/patología , Ensayos Antitumor por Modelo de Xenoinjerto
15.
Clin Cancer Res ; 14(15): 4775-9, 2008 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-18676747

RESUMEN

PURPOSE: pRb2/p130, a member of the Retinoblastoma gene family, has been shown to be a powerful prognostic factor in several malignancies. We sought to evaluate pRb2/p130 protein expression and its clinical effect in patients affected with soft tissue sarcomas (STS). EXPERIMENTAL DESIGN: Expression of pRb2/p130 was evaluated by immunohistochemistry on formalin-fixed, paraffin-embedded sections in 41 STSs. Results obtained were correlated with clinicopathologic variables and disease-free and overall survival (OS) in univariate and multivariate analysis. RESULTS: Expression of pRb2/p130 was diminished in 25 (61%) tumors, whereas the remaining ones (39%) were classified as high expressors. No correlation between pRb2/p130 expression and clinicopathologic variables was observed. However, a direct relationship between pRb2/p130 expression and clinical outcome of the patients was found in the subgroup of nonmetastatic tumors (n = 31). In univariate analysis, reduced pRb2/p130 expression was a negative prognostic factor and correlated with shorter disease-free survival (P = 0.021) and OS (P = 0.017) survival. In multivariate analysis, reduced pRb2/p130 expression was confirmed to be an independent predictor of shorter OS when considered together with tumor stage and grading (risk ratio, 7.893; confidence interval, 1.618-38.509; P = 0.011). CONCLUSIONS: This study shows for the first time the potential prognostic value of pRb2/130 expression evaluated on formalin-fixed, paraffin-embedded sections in STSs patients. pRb2/p130 immunoreactivity can be used to predict OS in patients with nonmetastatic STSs and, therefore, may represent a new prognostic marker.


Asunto(s)
Regulación Neoplásica de la Expresión Génica , Proteína p130 Similar a la del Retinoblastoma/biosíntesis , Proteína p130 Similar a la del Retinoblastoma/fisiología , Sarcoma/metabolismo , Sarcoma/mortalidad , Neoplasias de los Tejidos Blandos/metabolismo , Neoplasias de los Tejidos Blandos/mortalidad , Adulto , Anciano , Anciano de 80 o más Años , Supervivencia sin Enfermedad , Humanos , Inmunohistoquímica , Persona de Mediana Edad , Modelos Biológicos , Análisis Multivariante , Pronóstico , Sarcoma/genética , Neoplasias de los Tejidos Blandos/genética , Resultado del Tratamiento
16.
Cardiovasc Pathol ; 17(3): 186-9, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18402791

RESUMEN

BACKGROUND: Kawasaki disease (KD) is an infantile febrile illness of unknown origin characterized by clinical, laboratory and histopathologic features of systemic vasculitis. METHODS AND RESULTS: We report a 3-month-old female infant with incomplete KD who suddenly died despite intravenous immunoglobulin, aspirin, steroid and heparin treatment. Postmortem examination confirmed the echocardiographically detected giant coronary aneurysms and showed occlusive thrombosis in the giant aneurysm of the left anterior descending coronary artery, associated with neoangiogenesis, macrophage infiltration and immunostaining for tissue factor (a strong initiator of the coagulation cascade), thrombopoietin receptor and tumour necrosis factor-alpha. CONCLUSIONS: These findings show the association of angiogenesis, tumor necrosis factor-alpha and procoagulant factors, with macrophage infiltration in coronary artery aneurysms of a fatal infantile KD.


Asunto(s)
Factores de Coagulación Sanguínea/biosíntesis , Aneurisma Coronario/etiología , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/patología , Neovascularización Patológica/etiología , Factor de Necrosis Tumoral alfa/biosíntesis , Aneurisma Coronario/metabolismo , Aneurisma Coronario/patología , Resultado Fatal , Femenino , Humanos , Inmunohistoquímica , Lactante , Macrófagos/metabolismo , Macrófagos/patología , Síndrome Mucocutáneo Linfonodular/fisiopatología , Miocardio/metabolismo , Miocardio/patología , Neovascularización Patológica/patología , Receptores de Trombopoyetina/biosíntesis , Tromboplastina/biosíntesis
17.
J Pediatr Hematol Oncol ; 27(6): 337-40, 2005 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-15956890

RESUMEN

Kikuchi-Fujimoto disease, a benign and unusual self-limiting histiocytic necrotizing lymphadenitis of unknown origin, should be included in the differential diagnosis of lymphadenopathy and fever of unknown origin. This disease mostly affects young Asian women and has rarely been reported in children, thus remaining a poorly recognized entity that is frequently confused with malignant lymphoma. The authors describe two children with Kikuchi-Fujimoto disease, with particular attention to diagnostic approach and clinical and histologic features of the disease.


Asunto(s)
Fiebre de Origen Desconocido/etiología , Linfadenitis Necrotizante Histiocítica/complicaciones , Enfermedades Linfáticas/etiología , Adolescente , Biopsia , Niño , Linfadenitis Necrotizante Histiocítica/patología , Humanos , Enfermedades Linfáticas/patología , Masculino
18.
Exp Hematol ; 33(5): 597-604, 2005 May.
Artículo en Inglés | MEDLINE | ID: mdl-15850838

RESUMEN

OBJECTIVE: Identification of a rapid and noninvasive test for the follow-up of aplastic anemia (AA) patients during immunosuppressive therapy (IST) to evaluate its functional effect on hematopoietic progenitors (HPC) and for early detection of progression to myelodysplasia or relapse. MATERIALS AND METHODS: Absolute count and apoptotic rate (AR) of peripheral blood (PB) CD34+ cells were evaluated by three-color flow cytometry for CD45, CD34, and annexin V in cord blood (CB), normal children, and adults, as well as in pediatric patients with AA at diagnosis and during IST, Fanconi anemia (FA), chronic immune cytopenia, and refractory anemia with excess blasts (RAEB). RESULTS: In normal subjects, the AR of PB CD34+ cells showed a progressive increase (p < 0.05), while their counts decreased (p < 0.05) from birth to adulthood. In very severe AA (vSAA) and severe AA (SAA) at diagnosis, the AR was 91.6% +/- 2.8%, higher than controls (p < 0.05), and PB CD34+ cell count was 2.6 +/- 2.4/microL. In FA patients, the PB CD34+ AR was again significantly increased (54.2% +/- 13.7%) with an absolute count of 3.7 +/- 1.2/microL. Conversely, in RAEB the AR was 11.7% +/- 3.5% and the absolute count 85.1 +/- 48.2/microL (p < 0.05). Chronic immune cytopenias did not significantly differ from controls. CONCLUSIONS: Flow cytometry evaluation of PB CD34+ AR and counts is a noninvasive and feasible first-step method for the differentiation of AA and myelodysplasia (MDS), and it might be useful for monitoring AA during IST to secure the early detection of relapse or transformation to MDS.


Asunto(s)
Anemia Aplásica/patología , Antígenos CD34/análisis , Apoptosis , Linfocitos/inmunología , Síndromes Mielodisplásicos/patología , Adolescente , Adulto , Anemia Aplásica/sangre , Anemia Aplásica/inmunología , Niño , Preescolar , Citometría de Flujo , Humanos , Lactante , Recién Nacido , Persona de Mediana Edad , Síndromes Mielodisplásicos/sangre , Síndromes Mielodisplásicos/inmunología , Recurrencia , Sensibilidad y Especificidad
20.
Radiol Med ; 104(5-6): 451-8, 2002.
Artículo en Inglés, Italiano | MEDLINE | ID: mdl-12589267

RESUMEN

PURPOSE: A morphological analysis of wash-in and wash-out curves was carried out to assess their significance in the evaluation of superficial masses with US after the introduction of contrast medium, and to compare the findings with the histological analysis. MATERIALS AND METHODS: From April to December 2000 we studied 70 patients with palpable masses in different body sites. Each patient underwent US examination at baseline and after the introduction of Levovist contrast medium (Schering, Berlin, Germany), performed with an AU5 Harmonic device (Esaote Biomedica, Genoa, Italy), using linear probes with frequencies ranging from 7.5 to 13 MHz and software assessing wash-in and wash-out curves. All the patients underwent surgical excision of the mass. Histological confirmation of the nature of the mass was therefore available for all cases. RESULTS: Out of 70 examined patients, 43 had benign and 27 had malignant lesions. In cases of dubious interpretation of ultrasound and MR imaging, color Doppler US with contrast medium and the subsequent analysis of wash-in and wash-out curves exhibited a particular curve pattern indicating the nature of the lesion. DISCUSSION AND CONCLUSIONS: Based on the preliminary data gathered, we believe that the analysis of wash-in and wash-out curves can be useful and reliable in diagnosing an expansile soft tissue lesions. Because our study is still in its early stages and is based on a small number of cases, no conclusions can be drawn as yet but just an observation and description of data obtained.


Asunto(s)
Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Ultrasonografía Doppler en Color , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Medios de Contraste , Humanos , Persona de Mediana Edad , Polisacáridos , Neoplasias de los Tejidos Blandos/patología , Programas Informáticos
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