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Open Access Case report

An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma

Katharina Engel1*, Martina Rudelius2, Felix G Meinel3, Christian Peschel1 and Ulrich Keller1

Author Affiliations

1 Department of Medicine III, Technische Universität München, Ismaninger Strasse 22, 81675 Munich, Germany

2 Institute of Pathology, Technische Universität München, Munich, Germany

3 Institute for Clinical Radiology, Ludwig-Maximilians-Universität, Munich, Germany

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BMC Hematology 2014, 14:2  doi:10.1186/2052-1839-14-2

Published: 16 January 2014

Abstract

Background

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder characterized by immune deficiency, microcephaly, mental retardation and a disposition for the development of hematological malignancies. So far, mostly pediatric patients have been described, since the underlying condition is often fatal before adulthood. Many patients diagnosed with Hodgkin lymphoma (HL) due to this DNA repair defect receive reduced treatment followed by early progression and fatal outcome.

Case presentation

We describe here a 26-year old male caucasian patient with NBS who presented with multi organ failure due to HL. Immediate intensive chemotherapy lead to complete remission and reversed organ failure.

Conclusion

We show that application of standard chemotherapy can lead to long-term disease free survival in patients with a DNA repair disorder. Furthermore, we describe here, to the best of our knowledge, the first adult patient with NBS and HL.

Keywords:
Nijmegen breakage syndrome; DNA repair disorder; Hodgkin lymphoma; ABVD chemotherapy