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

Abstract

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.