CD4/CD8 double-positive, acute type of adult T-cell leukemia/lymphoma with extensive cutaneous involvement

A 67-year-old Korean man presented with a 2-week history of pruritic cutaneous lesions on the trunk and a 2-month history of cervical neck masses. The cutaneous lesions had been spreading rapidly for the last week. The past history included an unknown liver disease about 40 years previously, and he had never been transfused. The physical examination revealed multiple cervical lymph node enlargements and a two-finger width of splenomegaly with tenderness. Numerous nodules and plaques were distributed on the trunk, face, and proximal extremities (Fig. 1). The results of laboratory tests were as follows: leukocyte count, 24,200/ mm³, with lymphocytes 15,560/mm³; serum lactate dehydrogenase, 943 IU/L (normal range, 263-450 IU/L); alkaline phosphatase, 135 IU/L (normal range, 35-60 IU/L); blood urea nitrogen, 32 mg/dL (normal range, 3-24 mg/dL); serum creatinine, 1.7 mg/dL (normal range, 0.3-1.6 mg/dL); serum calcium, 17.5 mg/dL (normal range, 8.8-10.2 mg/dL). Other laboratory results, including liver function test and urine analysis, showed no abnormalities. The examination of peripheral blood revealed multilobulated atypical lymphoid cells. The radiologic images showed hilar, para-aortic lymph node enlargement and splenomegaly. A skin biopsy from the nodular lesion revealed massive infiltration of small- to medium-sized atypical lymphoid cells in the dermis (Fig. 2a). The infiltrating cells were positive for CD3 (Fig. 2b), CD4 (Fig. 2c), CD5, and CD8 (Fig. 2d), but negative for CD20, CD34, CD56, CD68, and terminal deoxynucleotidyl transferase (TdT) in the immunohistochemical studies on paraffin sections. They also showed high Ki-67 labeling (80-90%), and this finding reflects their highly proliferative nature. Polymerase chain reaction (PCR) analysis showed a distinct band for the T-cell γ receptor gene, confirming the T-cell clonality of the infiltrating neoplastic cells. Specimens from the cervical lymph node and bone marrow showed the same results in immunohistochemical studies. PCR analysis of the DNA from peripheral leukemic cells showed human T-cell leukemia virus type I (HTLV-I) proviral integration. The patient was diagnosed as having the acute type of adult T-cell leukemia/lymphoma (ATLL). The disease course was extremely aggressive, and he died of acute renal failure on the 16th day following diagnosis.