Sézary syndrome with a 14:14 (q12:q31) translocation

The Sézary syndrome was diagnosed in a 71-year-old black woman with erythroderma, generalized lymphadenopathy and hepatosplenomegaly. The laboratory data revealed a white blood cell count of 65,000 mm3 with 81% lymphocytes, the majority having an indented or a cerebriform nucleus. The skin biopsy, the lymph node biopsy and immunologic surface marker studies confirmed the diagnosis of Sézary syndrome. The cytogenetic studies of the bone marrow and the peripheral blood revealed a (14:14) (q12:q31) translocation present, consistently in majority of the lymphocytes. This translocation is considered characteristic of ataxia-telangiectasia and, to our knowledge, has not been previously described in Sézary syndrome.