RESUMO
BACKGROUND: We present the results of a cytogenetic and molecular cytogenetic analysis of a series of patients with bone and soft tissue tumors. PATIENTS ANDMETHODS: We analyzed a cohort of 26 patients with Ewing sarcoma/PNET, 15 patients with rhabdomyosarcoma, 5 with synovial sarcoma and one patient with an undifferentiated sarcoma using the cytogenetic and molecular cytogenetic techniques M-FISH and arrayCGH. RESULTS: We found nonrandom chromosomal structural and numerical changes with diagnostic and prognostic relevance in most patients. Eight patients with ES/PNET had only a t(11;22)(q24;q12), eight patients had secondary aberrations as well and six had only secondary aberrations. In the RMS patients we detected the t(1;13)(p36;q14) once and the t(2;13)(q35;q14) four times, both of them characteristic for the alveolar subtype with poor prognosis and numerical aberrations, characteristic for the embryonal subtype, in five patients. Four patients with synovial sarcoma had the diagnostic t(X;18)(p11.2;q11.2), one of them had a complex karyotype with a complex t(X;18;21) (p11.2;q11.2;q11.2) together with t(2;5)(q24-32;p13-14) and t(12;20)(p11;q13). We correlated the karyotype of cancer cells with histopathologic morphologic analysis, clinical outcome and foreign published results. CONCLUSION: Cytogenetic and molecular cytogenetic analysis is a valuable diagnostic tool in bone and soft tissue tumors, especially in less differentiated subtypes, and as such it should be an integral part of curative care.
Assuntos
Neoplasias Ósseas/genética , Aberrações Cromossômicas , Neoplasias de Tecidos Moles/genética , Adolescente , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Adulto JovemRESUMO
On example of three patients with septo-optic dysplasia the authors present a rare clinical entity involving combined disturbances of endocrine and neurologic systems and variable expressed clinical triad: 1) pituitary aplasia/dysplasia with pituitary hormones deficiency, 2) developmental disturbance of the middle-brain structures (corpus callosum and septum pellucidum), and 3) dysplastic changes of the optic nerve. The knowledge about components belonging to the competence of other specialists and awareness of consequences of untreated hypopituitarism, are imperatives for interdisciplinary cooperation of ophthalmologist, neurologist, radiologist, and endocrinologist. Moreover, they predict early initiation of the adequate and often vital therapy. Molecular-genetic studies in patients with septo-optic dysplasia represent a way to better knowledge about early stages of the pituitary gland and brain development.