title: Congenital acute T lymphoblastic leukaemia: report of a case with immunohistochemical and molecular characterisation.
abstract: A newborn infant with congenital T cell lymphoblastic leukaemia presented with hepatosplenomegaly and pancytopenia at birth and died on the 21st day of multi-organ failure. Biopsy and necropsy examination showed extensive atypical lymphoid infiltrates in the lungs, liver, spleen, kidneys, lymph nodes, and bone marrow. Immunohistochemically, the lymphoid cells were TdT+, CD3+, CD45RO+, and CD10-, CD79a-, CD20-. Genotypic analysis using polymerase chain reaction showed T cell receptor gamma chain gene rearrangement and absence of immunoglobulin heavy chain gene rearrangement. This appears to be the first documented case of congenital T cell lymphoblastic leukaemia. The case had unusual histological and immunogenotypic features, disseminated early, and pursued a highly aggressive course. Consideration of the diagnosis is of paramount importance. The immunophenotypic studies and molecular characterisation of such congenital leukaemias are critical in arriving at a definite diagnosis.
authors.affiliation: Department of Pathology, Long Island Jewish Medical Center, Albert Einstein College of Medicine, New Hyde Park, NY 11040, USA.
authors.forename: J
authors.initials: J
authors.lastname: Tao
authors.forename: E
authors.initials: E
authors.lastname: Valderrama
authors.forename: L
authors.initials: L
authors.lastname: Kahn
mesh_terms: D017809:Fatal Outcome; D005260:Female; D015334:Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor; D006801:Humans; D007124:Immunoenzyme Techniques; D016130:Immunophenotyping; D007231:Infant, Newborn; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000151:congenital* / Q000276:immunology / Q000473:pathology