Journal Information
Vol. 57. Issue 6.
Pages 574-577 (01 December 2002)
Share
Share
Download PDF
More article options
Vol. 57. Issue 6.
Pages 574-577 (01 December 2002)
Full text access
Linfoma pulmonar asociado a síndrome de Nijmegen
Nijmegen breakage syndrome associated with pulmonary lymphoma
Visits
...
D. Moreno Péreza,
Corresponding author
dmorenop@wanadoo.es

Correspondencia: Santa Julia, 10. 29640 Fuengirola. Málaga. España.
, F.J. García Martína, R. Vázquez Lópeza, E. Pérez Ruizb, M.E. González Valentínc, B. Weil Larad, A. Jurado Ortiza
a Unidades de Infectología e Inmunodeficiencias Pediátricas Hospital Materno-Infantil. Complejo Hospitalario Carlos Haya. Málaga. España
b Unidades de Neumología Pediátrica. Neumología Pediátrica. Hospital Materno-Infantil. Complejo Hospitalario Carlos Haya. Málaga. España
c Servicios de Hematología Infantil Hospital Materno-Infantil. Complejo Hospitalario Carlos Haya. Málaga. España
d Servicios de Anatomía Patológica. Hospital Materno-Infantil. Complejo Hospitalario Carlos Haya. Málaga. España
Article information
Abstract
Bibliography
Download PDF
Statistics

El síndrome de Nijmegen es una rara entidad autosómica recesiva caracterizada por un síndrome dismórfico peculiar (microcefalia, cara de pájaro, talla corta), inmunodeficiencia combinada acompañada de infecciones recurrentes, hipersensibilidad a las radiaciones ionizantes y predisposición a la aparición de neoplasias, sobre todo linfomas, debido a inestabilidad cromosómica por anomalías en los mecanismos de reparación de las roturas del ADN.

Se presenta el caso de un paciente de 6 años con síndrome de Nijmegen, que en su evolución desarrolló un linfoma no hodgkiniano de células B grandes de localización pulmonar sin afectación ganglionar.

Palabras clave:
Síndrome de Nijmegen
Roturas cromosómicas
Inmunodeficiencia primaria
Linfoma no hodgkiniano
Linfoma de células B rico en células T

Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, “bird-like™ facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of chromosome instability due to anomalies in the repair of double-stranded DNA breaks.

We present a 6-year-old boy with Nijmegen breakage syndrome, who developed a large B-cell non-Hodgkin's lymphoma, localized in the lung without nodal involvement.

Key words:
Nijmegen breakage syndrome
Chromosome breakage
Primary immunodeficiency
Non-Hodgkin's lymphoma
T-cell-rich B-cell lymphoma
Full text is only aviable in PDF
Bibliografía
[1.]
C.M.R. Weemaes, T.W.J. Hustinx, J.M.J.C. Scheres, P.J.J. Van Munster.
Bakkeren JAJM, Taalmann RDFM. A new chromosomal instability disorder: The Nijmegen breakage syndrome.
Acta Paediatr Scand, 70 (1981), pp. 557-564
[2.]
The International Nijmegen Breakage Syndrome Study Group.
Nijmegen breakage syndrome.
Arch Dis Child, 82 (2000), pp. 400-406
[3.]
M.A. Garcia-Perez, L.M. Allende, A. Corell, E. Paz-Artal, P. Varela, A. Lopez-Goyanes, et al.
Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.
Clin Diagn Lab Immunol, 8 (2001), pp. 757-761
[4.]
M. Futaki, J.M. Liu.
Chromosomal breakage syndromes and the BRCA1 genome surveillance complex.
Trends Mol Med, 7 (2001), pp. 560-565
[5.]
I. Van der Burgt, K.H. Chrzanowska, D. Smeets.
Weemaes CMR. Nijmegen breakage syndrome.
J Med Genet, 33 (1996), pp. 153-156
[6.]
R. Varon, C. Vissinga, M. Platzer, K.M. Cerosaletti, K.H. Chrzanowska, K. Saar, et al.
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Cell, 93 (1998), pp. 467-476
[7.]
S. Matsuura, H. Tauchi, A. Nakamura, N. Kondo, S. Sakamoto, S. Endo, et al.
Positional cloning of the gene for Nijmegen breakage syndrome.
Nat Genet, 19 (1998), pp. 179-181
[8.]
P. Carney.
Chromosomal breakage syndromes.
Curr Opin Immunol, 11 (1999), pp. 443-447
[9.]
J.P. Carney, R.S. Maser, H. Olivares, E.M. Davis, M. Le Beau, J.R. Yates 3rd, et al.
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response.
Cell, 93 (1998), pp. 477-486
[10.]
K. Seidemann, G. Henze, J.D. Beck, A. Sauerbrey, J. Kuhl, G. Mann, et al.
Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): Experience from the BFM trials.
Ann Oncol, 11 (2000), pp. 141-145
[11.]
M. Paulli, A. Viglio, E. Boveri, A. Pitino, M. Lucioni, C. Franco, et al.
Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma: Case report.
Pediatr Dev Pathol, 3 (2000), pp. 264-270
[12.]
K.S.J. Elenitoba-Johnson, E.S. Jaffe.
Lymphoproliferative disorders associated with congenital immunodeficiencies.
Semin Diagn Pathol, 14 (1997), pp. 35-47
[13.]
K.H. Chrzanowska, W.J. Kleijer, M. Krajewska-Walasek, M. Bialecka, A. Gutkowska, B. Goryluk-Kozakiewicz, et al.
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome.
Am J Med Genet, 57 (1995), pp. 462-471
[14.]
K. Seidemann, M. Tiemann, G. Henze, A. Sauerbrey, S. Muller, A. Reiter.
Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: Analysis of 19 patients from the BFM trials.
Med Pediatr Oncol, 33 (1999), pp. 536-544
[15.]
M. Stumm, A. Von Ruskowsky, R. Siebert, S. Harder, R. Varon, P. Wieacker, et al.
No evidence for deletions of the NBS1 gene in lymphomas.
Cancer Genet Cytogenet, 126 (2001), pp. 60-62
[16.]
T.M. Habermann, J.H. Rvu, D.J. Inwards, P.J. Kurtin.
Primary pulmonary lymphoma.
Semin Oncol, 26 (1999), pp. 307-315
[17.]
P. Ferraro, V.F. Trastek, H. Adlakha, C. Deschamps, M.S. Allen, P.C. Pairolero.
Primary non-Hodgkin's lymphoma of the lung.
Ann Thorac Surg, 69 (2000), pp. 993-997
[18.]
J.J. Ondejans, A. Brink, A.J.C. Van de Brule, J.M. Middledorg, C.J.L. Meijer.
Virus de Epstein-Barr y linfomas: prevalencia, patogénesis y aspectos clínicos. En: Síndromes linfoproliferativos, 1.a ed.
pp. 59-68
Copyright © 2002. Asociación Española de Pediatría
Idiomas
Anales de Pediatría (English Edition)

Subscribe to our newsletter

Article options
Tools
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?