title: T-cell prolymphocytic leukemia with autoimmune manifestations in Nijmegen breakage syndrome.
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.
authors.affiliation: Service d'hématologie clinique, Hôpital Necker, Paris, France. annesophie.michallet@voila.fr.|Service d'hématologie, Pavillon E, Hôpital Edouard Herriot, Place d'Arsonval, 69437, Lyon, France. annesophie.michallet@voila.fr.
authors.forename: A-S
authors.initials: AS
authors.lastname: Michallet
authors.affiliation: INSERM U546, Faculté de Médecine Pitié-Salpétrière, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Lesca
authors.affiliation: Laboratoire de cytogénétique, Hôpital Necker, Paris, France.
authors.forename: I
authors.initials: I
authors.lastname: Radford-Weiss
authors.affiliation: Service d'hématologie clinique, Hôpital Necker, Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Delarue
authors.affiliation: Service d'hématologie clinique, Hôpital Necker, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Varet
authors.affiliation: Service d'hématologie clinique, Hôpital Necker, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Buzyn
mesh_terms: D000293:Adolescent; D000744:Anemia, Hemolytic, Autoimmune / Q000188:drug therapy / Q000209:etiology*; D000903:Antibiotics, Antineoplastic / Q000627:therapeutic use; D020732:Cytogenetic Analysis; D005166:Factor V Deficiency / Q000209:etiology; D005808:Genes, Recessive; D005938:Glucocorticoids / Q000627:therapeutic use; D006130:Growth Disorders / Q000150:complications* / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000235:genetics; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D015463:Leukemia, Prolymphocytic / Q000188:drug therapy / Q000209:etiology*; D015458:Leukemia, T-Cell / Q000188:drug therapy / Q000209:etiology*; D008297:Male; D008775:Methylprednisolone / Q000627:therapeutic use; D008831:Microcephaly / Q000150:complications* / Q000235:genetics; D015649:Pentostatin / Q000627:therapeutic use; D013577:Syndrome
chemical_list: D000903:Antibiotics, Antineoplastic; D005938:Glucocorticoids; D015649:Pentostatin; D008775:Methylprednisolone