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1.
Medicina (Kaunas) ; 56(7)2020 Jul 21.
Artículo en Inglés | MEDLINE | ID: mdl-32708209

RESUMEN

Rhabdomyosarcoma (RMS) is a common soft tissue sarcoma in childhood, however, it is very rare in the neonatal period (0.4-2% of cases). This case depicts a boy, who presented with RMS at two weeks of age, but officially diagnosed at the age of three months. MRI and scintigraphy determined a soft tissue tumor in the soleus muscle, while biopsy confirmed embryonal RMS with high mitotic activity (Ki67 (monoclonal antibodies) ~80%). CWS (Cooperative Weichteilsarkom Studiengruppe)-2012 with I2VA (ifosfamide, vincristine, actinomycin) chemotherapy regimen was administered per protocol. Surgical treatment was performed at age of six months and 18 days. The operation consisted of radical tumor resection and total triceps surae with partial fibula resection. Immediate reconstruction of triceps muscle was accomplished using a vascularized functional musculocutaneous vastus lateralis flap. Functional outcome was measured using the Lower Extremity Functional Scale (LEFS) and the Foot and Ankle Outcome Score (FAOS) with the results of 92.5% and 99% respectively.


Asunto(s)
Músculo Cuádriceps/cirugía , Rabdomiosarcoma Embrionario/cirugía , Colgajos Quirúrgicos/cirugía , Biopsia/métodos , Humanos , Lactante , Pierna/anomalías , Pierna/cirugía , Masculino , Músculo Cuádriceps/anomalías , Músculo Cuádriceps/irrigación sanguínea , Procedimientos de Cirugía Plástica/métodos , Rabdomiosarcoma Embrionario/complicaciones , Colgajos Quirúrgicos/efectos adversos
2.
Asian Pac J Cancer Prev ; 15(22): 9707-11, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25520092

RESUMEN

BACKGROUND: Acute lymphoblastic leukemia (ALL) is a complex disease caused by interactions between hazardous exogenous or/and endogenous agents and many mild effect inherited susceptibility mutations. Some of them are known, but their functional roles still requireinvestigation. Age is a recognized risk factor; children with disease onset after the age of ten have worse prognosis, presumably also triggered by inherited factors. MATERIALS AND METHODS: The MDR1 gene polymorphisms rs1045642, rs2032582 and MTHFR gene polymorphisms rs1801131 and rs1801133 were genotyped in 68 ALL patients in remission and 102 age and gender matched controls; parental DNA samples were also available for 42 probands. RESULTS: No case control association was found between analyzed polymorphisms and a risk of childhood ALL development. Linkage disequilibrium was not observed in a family-based association study either. Only marginal association was observed between genetic marker rs2032582A and later disease onset (p=0.04). CONCLUSIONS: Our data suggest that late age of ALL onset could be triggered by mild effect common alleles.


Asunto(s)
Predisposición Genética a la Enfermedad , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Subfamilia B de Transportador de Casetes de Unión a ATP/genética , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Estudios de Seguimiento , Genotipo , Humanos , Lactante , Masculino , Estadificación de Neoplasias , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología , Pronóstico , Factores de Riesgo
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