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1.
Asia Pac J Clin Oncol ; 15(1): 38-47, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29806089

RESUMEN

AIM: Fluorescence in situ hybridization (FISH) is an important ancillary tool for the classification of bone/soft tissue (BST) tumors. The aim of this study was to evaluate the contribution of FISH to the final classification of common BST entities in the molecular pathology department of the Royal Prince Alfred Hospital (RPAH), which is one of the most important referral centers for the management of sarcomas in Australia. METHODS: All routine diagnostic FISH tests performed on BST formalin-fixed paraffin embedded (FFPE) tissue specimens at the RPAH in a 5-year period (February, 2010-November, 2015) were reviewed. FISH analyses presented in this study include commercial break-apart probes (SS18, FUS, DDIT3, FUS, USP6, PDGFB, TFE3 and ALK) and a single enumeration (MDM2) probe. RESULTS: There were 434 interpretable FISH assays on BST samples including MDM2 (n=180), SS18 (n=97), FUS (n=64), DDIT3 (n=37), USP6 (n=30), PDGFB (n=13), TFE3 (n=8) and ALK (n=5). Discrepancies between the histopathological diagnosis and the FISH results were seen in 12% of the cases. In this subset of discordant cases, FISH contributed to the re-classification of 7% of cases originally diagnosed as synovial sarcoma (SS18) and 6% of adipocytic neoplasms (MDM2) based on the presence or absence of the expected gene alteration. CONCLUSION: Our study confirms that paraffin FISH is a sensitive and specific ancillary tool in the diagnosis of BST neoplasms when used in the appropriate clinicopathological context. These findings highlight the need for further ancillary molecular tools in the diagnosis and characterization of challenging cases.


Asunto(s)
Variaciones en el Número de Copia de ADN , Reordenamiento Génico , Hibridación Fluorescente in Situ/métodos , Proteínas de Neoplasias/genética , Neoplasias de los Tejidos Blandos/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Australia/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de los Tejidos Blandos/epidemiología , Neoplasias de los Tejidos Blandos/genética , Centros de Atención Terciaria , Adulto Joven
2.
Histopathology ; 69(6): 1000-1011, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27385661

RESUMEN

AIMS: Recurrent Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangements characterize a select group of bone and soft tissue tumours. In our routine diagnostic practice with fluorescence in-situ hybridization (FISH), we have occasionally observed EWSR1 gene rearrangements in tumours not associated classically with EWSR1 translocations. This study aimed to review our institutional experience of this phenomenon and also to highlight the occurrence of unusual EWSR1 FISH signals (i.e. 5' centromeric region or 3' telomeric region signals) that do not fulfil the published diagnostic criteria for rearrangements. METHODS AND RESULTS: Using an EWSR1 break-apart probe, we performed FISH assays on formalin-fixed paraffin-embedded tissue sections from 135 bone and soft tissue specimens as part of their routine diagnostic work-up. EWSR1 gene rearrangements were identified in 51% of cases, 56% of which also showed an abnormal FISH signal pattern (in addition to classically rearranged signals). However, atypical FISH signals were present in 45% of the non-rearranged cases. In addition, we observed tumours unrelated to those described classically as EWSR1-associated that were technically EWSR1-rearranged in 6% of cases. Borderline levels of rearrangement (affecting 10-30% of lesional cells) were present in an additional 17% of these cases. CONCLUSIONS: While our study confirmed that FISH is a sensitive and specific tool in the diagnosis of EWSR1-associated tumours, atypical FISH signals and classical rearrangement in entities other than EWSR1-associated tumours can occur. Therefore, it is essential that the FISH result not be used as an isolated test, but must be evaluated in the context of clinical features, imaging, pathological and immunohistochemical findings.


Asunto(s)
Neoplasias Óseas/genética , Proteínas de Unión a Calmodulina/genética , Proteínas de Unión al ARN/genética , Neoplasias de los Tejidos Blandos/genética , Reordenamiento Génico , Humanos , Hibridación Fluorescente in Situ , Proteína EWS de Unión a ARN
3.
Clin Child Fam Psychol Rev ; 15(1): 14-27, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22311087

RESUMEN

The social problem posed by family conflict to the physical and psychological health and well-being of children, parents, and underlying family relationships is a cause for concern. Inter-parental and parent-child conflict are linked with children's behavioral, emotional, social, academic, and health problems, with children's risk particularly elevated in distressed marriages. Supported by the promise of brief psycho-educational programs (e.g., Halford et al. in Journal of Family Psychology 22:497-505, 2008; Sanders in Journal of Family Psychology 22:506-517, 2008), the present paper presents the development and evaluation of a prevention program for community families with children, concerned with family-wide conflict and relationships, and building on Emotional Security Theory (Davies and Cummings in Psychological Bulletin 116:387-411, 1994). This program uniquely focuses on translating research and theory in this area into brief, engaging programs for community families to improve conflict and emotional security for the sake of the children. Evaluation is based on multi-domain and multi-method assessments of family-wide and child outcomes in the context of a randomized control design. A series of studies are briefly described in the programmatic development of a prevention program for conflict and emotional security for community families, culminating in a program for family-wide conflict and emotional security for families with adolescents. With regard to this ongoing program, evidence is presented at the post-test for improvements in family-wide functioning, consideration of the relative benefits for different groups within the community, and preliminary support for the theoretical bases for program outcomes.


Asunto(s)
Desarrollo Infantil , Conflicto Familiar/psicología , Terapia Familiar/métodos , Adolescente , Niño , Emociones , Familia/psicología , Humanos , Relaciones Padres-Hijo , Psicología Infantil , Investigación Biomédica Traslacional
4.
Top Magn Reson Imaging ; 21(1): 37-50, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21317567

RESUMEN

Common bone and soft tissue tumors in the foot and ankle are described in this article, and x-ray and magnetic resonance imaging characteristics are given. Ultrasound can be used for limited indications only, noting that ultrasound features are nonspecific. Of the bone and soft tissue tumors, approximately 7% occur in the foot and ankle. Soft tissue tumors are more common than bone tumors. Tumors of the foot and ankle are generally benign or nonneoplastic. Patients with suspected malignant lesions should be referred to a specialized bone tumor unit before biopsy.


Asunto(s)
Tobillo/patología , Neoplasias Óseas/diagnóstico , Pie/patología , Neoplasias de los Tejidos Blandos/patología , Tobillo/diagnóstico por imagen , Neoplasias Óseas/diagnóstico por imagen , Diagnóstico por Imagen , Pie/diagnóstico por imagen , Humanos , Radiografía
5.
Child Abuse Negl ; 32(10): 972-82, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19004495

RESUMEN

OBJECTIVE: The present project examined the relationships among early maternal maltreatment risk, children's self-regulation, and later development. It was expected that early maltreatment risk would impact children's emerging self-regulation which in turn, would foster pre-academic delays and behavioral problems. METHOD: The project used structural equation modeling to examine the relationship between early maltreatment risk in 169 primiparous adolescent mothers and the subsequent development of their children in pre-academic and behavioral domains at 5 years of age. Maltreatment risk was assessed by two evaluation tools: (1) a multi-measure index of parenting attitudes, abuse potential, and knowledge and expectations about child development, and (2) an abbreviated version of the multi-measure index consisting of only 12 items. In addition, cognitive and emotional regulation at age 3, as assessed by maternal reports of regulatory behaviors and a newly created observational measure, was evaluated as a potential mediator of development at 5. RESULTS: Findings revealed that maternal maltreatment risk was associated with lower levels of children's regulation, which in turn significantly predicted pre-academic skills and behavior problems. Incorporating direct paths from maltreatment risk to each of the children's outcomes did not significantly improve model fit indices. CONCLUSIONS: Results suggest that self-regulation was a key process variable in the relationship between maltreatment risk and children's development. The findings support targeting self-regulatory abilities to halt the progression of developmental difficulties often found in maltreated children. PRACTICE IMPLICATIONS: The present study identified self-regulation as a mechanism for transmitting the effects of maltreatment risk to multiple domains of children's functioning; these findings have important implications for intervention programs. Intervention programs that focus on fostering self-regulation in home and preschool settings should enhance developmental outcomes. Previous research has shown the utility of targeting self-regulation in reducing the frequency and intensity of students' anger (Beck, R., & Fernandez, E. (1998). Cognitive-behavioral self-regulation of the frequency, duration, and intensity of anger. Journal of Psychopathology and Behavioral Assessment, 20, 217-229.). Within the context of maltreatment intervention, these programs have considerable utility. By tailoring programs to strengthen dysfunctional regulation processes common to maltreated children, cognitive and behavioral functioning should be enhanced.


Asunto(s)
Maltrato a los Niños/prevención & control , Relaciones Madre-Hijo , Autoeficacia , Adolescente , Actitud , Preescolar , Femenino , Humanos , Indiana , Masculino , Responsabilidad Parental , Medición de Riesgo , South Carolina , Encuestas y Cuestionarios , Adulto Joven
7.
Skeletal Radiol ; 36 Suppl 1: S50-7, 2007 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-16688448

RESUMEN

A case of epithelioid and spindle cell haemangioma of bone occurring in the proximal femur is presented. The tumour had typical microscopic features with a striking lobular pattern comprising spindled and epithelioid areas with admixed inflammatory cells. The case represents only the eighth reported example of this rare tumour, which appears to fit in the spectrum of epithelioid haemangioma. This is the first case to involve the proximal portion of a long bone. A review of the classification and features of similar vascular tumours of bone is presented.


Asunto(s)
Neoplasias Femorales/patología , Hemangioma/patología , Biopsia , Diagnóstico Diferencial , Neoplasias Femorales/cirugía , Hemangioma/cirugía , Humanos , Inmunohistoquímica , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad
8.
Skeletal Radiol ; 35(3): 165-71, 2006 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-16365746

RESUMEN

A highly unusual variant of an intraneural ganglion of the common peroneal nerve in a 30-year-old male is presented. There was extrusion of the contents of the cyst into the substance of the nerve, dissecting between the fibres and expanding the nerve in such a way that it mimicked an intraneural tumour clinically, radiologically and histologically. A comprehensive review of the entity is undertaken.


Asunto(s)
Ganglión/diagnóstico , Imagen por Resonancia Magnética , Nervio Peroneo , Adulto , Medios de Contraste , Diagnóstico Diferencial , Gadolinio DTPA , Ganglión/patología , Ganglión/cirugía , Humanos , Masculino , Conducción Nerviosa
9.
Pathol Int ; 54(5): 364-70, 2004 May.
Artículo en Inglés | MEDLINE | ID: mdl-15086843

RESUMEN

Parachordoma is a rare soft tissue tumor that morphologically resembles chordoma of the axial skeleton but occurs in a peripheral site. A recent study reported immunohistochemical differences between chordoma and parachordoma. While both tumors were positive for cytokeratin (CK) 8/18 (as recognized by the antibody Cam5.2), S100 and epithelial membrane antigen (EMA), only the chordoma was positive for CK7, CK20, CK 1/5/10/14 (as recognized by the antibody 34betaE12) and carcinoembryonic antigen (CEA). It has since been suggested that tumors indistinguishable from chordoma that involve the periphery should be termed chordoma periphericum and that these tumors are distinct from parachordoma. In the current study, the clinical, radiological, pathological, immunohistochemical and ultrastructural features of a chordoma-like tumor involving the deep soft tissues of the lower leg of a 69-year-old woman are presented. Microscopically, the tumor had a pseudolobulated growth pattern and consisted of sheets, nests and cords of epithelioid cells, some with a physaliferous appearance, separated by abundant myxoid stroma. The tumor cells were positive for CK 8/18, EMA and S100, showed focal staining for CK7, and were negative for CK20, CK 1/5/10/14 and CEA. On the basis of these results a diagnosis of parachordoma was favored. For comparison, an immunohistochemical analysis of five axial chordomas was also performed. The chordomas showed positivity for CK 8/18 (5 of 5 cases), EMA (5 of 5 cases), S100 (5 of 5 cases), CK 1/5/10/14 (1 of 5 cases) and CK7 (1 of 5 cases). Stains for CK20 and CEA were negative in all five chordomas. The results of the present study suggest that the expression of antigens for CK 1/5/10/14, CK7, CK20 and CEA in chordoma might not be as common as what has been previously reported. The results also suggest that parachordoma might not be easily distinguished immunohistochemically from axial chordoma (and therefore also from so-called chordoma periphericum).


Asunto(s)
Biomarcadores de Tumor/análisis , Cordoma/patología , Neoplasias de los Tejidos Blandos/patología , Anciano , Cordoma/metabolismo , Cordoma/ultraestructura , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica , Pierna/patología , Microscopía Electrónica , Pronóstico , Neoplasias de los Tejidos Blandos/metabolismo , Neoplasias de los Tejidos Blandos/ultraestructura
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