Stindl R, Fiegl M, Regele H, Gisslinger H, Breitenseher M J, Fonatsch C
Institut für Medizinische Biologie, Medizinische Fakultät, Universität Wien, Vienna, Austria.
Cancer Genet Cytogenet. 1998 Nov;107(1):43-7. doi: 10.1016/s0165-4608(98)00061-2.
Pancytopenia and fulminant disseminated intravascular coagulation in a 68-year-old woman suggested an acute hematologic malignancy. However, cytogenetic analysis on a bone marrow sample revealed a near-tetraploid karyotype with an isochromosome 1q and a translocation (2;13) (q35;q14), which was suggestive of an alveolar rhabdomyosarcoma (ARMS). This diagnosis was subsequently confirmed by indirect immunohistochemistry. ARMS has not yet been observed in a patient of this age. Thus, our case underlines the importance of cytogenetics, to establish an a priori unexpected tumor diagnosis.