T-cell prolymphocytic leukemia with autoimmune manifestations in Nijmegen breakage syndrome

Ann Hematol. 2003 Aug;82(8):515-517. doi: 10.1007/s00277-003-0697-y. Epub 2003 Jul 3.

Abstract

Nijmegen breakage syndrome (NBS) is characterized by growth retardation, microcephaly, mental retardation, immunodeficiency, and predisposition to malignancies, especially B-cell lymphomas. In contrast, leukemia is rare. A 23-year-old NBS patient presented with anemia, thrombocytopenia, and hyperlymphocytosis. The diagnosis of T-cell prolymphocytic leukemia (T-PLL) was confirmed by cytological and immunological assays (TdT(-), CD2(+), CD5(+), CD3m, and CD7(+)). Biological assays also showed a hemolytic anemia and a clotting factor V decrease. The patient was first treated by methylprednisone for 3 weeks. During this period the lymphocyte count decreased. The simultaneous normalization of the hemolysis and of factor V suggested that both could be related to T-PLL. Since T-PLL is refractory to conventional therapies with a poor prognosis, an intensive chemotherapy such as 2'-deoxycoformycin with anti-CDw52 monoclonal antibodies is usually favored. In the present case, however, because of the specific context (i.e., NBS-induced immunodepression, severe hemolytic anemia, and acquired factor V deficiency), he received pentostatin weekly during 1 month and in maintenance during 6 months. At last follow-up (7 months) he showed a persistent control of the lymphocytosis with no side effect.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anemia, Hemolytic, Autoimmune / drug therapy
  • Anemia, Hemolytic, Autoimmune / etiology*
  • Antibiotics, Antineoplastic / therapeutic use
  • Cytogenetic Analysis
  • Factor V Deficiency / etiology
  • Genes, Recessive
  • Glucocorticoids / therapeutic use
  • Growth Disorders / complications*
  • Growth Disorders / genetics
  • Humans
  • Immunologic Deficiency Syndromes / complications*
  • Immunologic Deficiency Syndromes / genetics
  • Infant, Newborn
  • Intellectual Disability / complications*
  • Intellectual Disability / genetics
  • Leukemia, Prolymphocytic / drug therapy
  • Leukemia, Prolymphocytic / etiology*
  • Leukemia, T-Cell / drug therapy
  • Leukemia, T-Cell / etiology*
  • Male
  • Methylprednisolone / therapeutic use
  • Microcephaly / complications*
  • Microcephaly / genetics
  • Pentostatin / therapeutic use
  • Syndrome

Substances

  • Antibiotics, Antineoplastic
  • Glucocorticoids
  • Pentostatin
  • Methylprednisolone