A Rare Variant of Aggressive T-Cell Large Granular Lymphocyte Leukemia Associated With Hepatic Fibrosis and Trisomy 8: A Case Report and Literature Review

Abstract

Aggressive T-cell large granular lymphocytic leukemia (T-LGL) is a rare entity with a poor prognosis, the main clinical findings being splenomegaly, lymphadenopathy, thrombocytopenia and a CD3⁺/CD56⁺ phenotype. A 21-year-old lady presented with hepatosplenomegaly, lymphadenopathy, B symptoms and thrombocytopenia. She subsequently developed jaundice, ascites and deranged liver function. LGL was detected in the peripheral blood and marrow. They had an aberrant CD3⁺/CD4^-/CD8dim/CD56⁺ phenotype. Karyotyping showed trisomy 8 which has not previously been reported in aggressive T-LGL. A liver biopsy showed hepatic fibrosis with a sinusoidal LGL infiltrate. Her ascitic fluid also showed involvement by T-LGL. She had a poor response to cyclophosphamide, doxorubicin, vincristine and prednisolone (CHOP) chemotherapy and opted for palliation. We performed targeted sequencing to detect mutations in the STAT3, STAT5b and PTPRT genes which were absent, suggesting the presence of an alternative genetic driver in our patient. We report an unusual case of aggressive T-LGL with an aberrant immunophenotype, trisomy 8 and hepatic fibrosis with absence of mutations in the STAT pathway. Our case describes novel features of aggressive T-LGL and the need for further studies to elucidate the genetic basis of this rare disease.




J Hematol. 2015;4(3):214-218
doi: http://dx.doi.org/10.14740/jh223w