ABSTRACT
A very young male infant with Omenn's syndrome had acquired hypothyroidism that was most likely caused by autoimmune thyroiditis. The hypothyroidism appeared at 3 months of age. These 2 rare conditions have not previously been reported occurring together. This case suggests that autoimmune thyroiditis may be another abnormal finding in Omenn's syndrome.
Subject(s)
Histiocytic Sarcoma/complications , Hypothyroidism/etiology , Follow-Up Studies , Histiocytic Sarcoma/drug therapy , Humans , Hypothyroidism/drug therapy , Immunosuppressive Agents/therapeutic use , Infant , Male , Thyroiditis, Autoimmune/drug therapy , Thyroiditis, Autoimmune/etiology , Thyroxine/therapeutic useABSTRACT
CBP, which is located on 16p13 and encodes a transcriptional adaptor/coactivator protein, has been shown to fuse by the t(8;16)(p11;p13) translocation to MOZ on 8p11 in acute myeloid leukemia. We found a t(11;16)(q23;p13) in a child with therapy-related chronic myelomonocytic leukemia. Subsequent reverse transcriptase-polymerase chain reaction and direct sequencing analyses revealed the MLL-CBP fusion transcript in CMML cells. Because 11q23 translocations involving MLL and t(8;16) involving MOZ and CBP have been reported in therapy-related leukemias, both the MLL and CBP genes may be targets for topoisomerase II inhibitors. Accordingly, we believe that most t(11;16)-associated leukemias may develop in patients who have been treated with cytotoxic chemotherapy for primary malignant diseases.