Refractory anemia with excess of blasts and isochromosome 12p in a patient with primary mediastinal germ-cell tumor. 1994

F Solé, and F Bosch, and S Woessner, and A Pérez-Losada, and F Cervantes, and E Montserrat, and L Florensa, and C Rozman
Laboratori de Citologia Hematològica, Hospital Central L'Aliança, Barcelona, Spain.

Isochromosome(12p), a cytogenetic abnormality characteristic of germ-cell tumors, is exceedingly rare in hematologic disorders. The cytogenetic analysis of a patient diagnosed as refractory anemia with excess of blasts with an associated i(12p), who previously had a teratocarcinoma of the mediastinum, is presented. The cytogenetic analysis was performed at diagnosis of the hematologic malignancy, with all 30 metaphases in the bone marrow culture showing a 47,X, -Y, +8, +i(12)(p10) karyotype. The cytogenetic findings in this patient are compared with those published concerning the association of mediastinal germ-cell tumors and malignant hematologic disorders.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D008479 Mediastinal Neoplasms Tumors or cancer of the MEDIASTINUM. Cancer of Mediastinum,Mediastinal Cancer,Cancer of the Mediastinum,Mediastinum Cancer,Mediastinum Neoplasms,Neoplasms, Mediastinal,Cancer, Mediastinal,Cancer, Mediastinum,Cancers, Mediastinal,Cancers, Mediastinum,Mediastinal Cancers,Mediastinal Neoplasm,Mediastinum Cancers,Mediastinum Neoplasm,Neoplasm, Mediastinal,Neoplasm, Mediastinum,Neoplasms, Mediastinum
D002881 Chromosomes, Human, Pair 12 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 12
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000754 Anemia, Refractory, with Excess of Blasts Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells. Leukemia, Smoldering,RAEB,RAEM,Refractory Anemia with Excess of Blasts,Leukemia, Smouldering,Leukemias, Smoldering,Smoldering Leukemia,Smoldering Leukemias,Smouldering Leukemia
D018237 Germinoma A malignant neoplasm of the germinal tissue of the GONADS; MEDIASTINUM; or pineal region. Germinomas are uniform in appearance, consisting of large, round cells with vesicular nuclei and clear or finely granular eosinophilic-staining cytoplasm. (Stedman, 265th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1642-3) Germinomas
D018404 Isochromosomes Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion. Isochromosome

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