Successful Treatment of Hodgkin Lymphoma in Nijmegen Breakage Syndrome

Abstract

Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder characterized by microcephaly, immunodeficiency, and predisposition to malignancy. We report on a 5-year-old patient with NBS who presented with nodular sclerosing type of Hodgkin disease stage IVB. Chemotherapy consisting of COPP/ABV regimen with reduction at 75% of full doses was employed. During this treatment, no major toxic or infectious complications were observed. Complete remission was achieved lasting now for 20 months. In DNA repair disorders, prognosis of Hodgkin disease is poor as opposed to excellent overall prognosis in general pediatric population. Better survival may be achieved both with adopted, disease-specific regimens, and individualized approach considering patient's clinical condition. Also, better recognition and treatment of infections during chemotherapy may reduce early deaths in patients with DNA repair disorders.

Malignancies in Primary Immunodeficiencies: A Single Center Experience

“…Malignancy occurs in NBS at higher frequency when compared with other DNA repair disorders. 23 According to the NBS registry center, malignancies are seen in 41% of patients. In patients with NBS, NHLs are the most common malignancies followed by leukemia and HL.…”

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

“…One NBS patient with HL described in the literature was six years old and died 12 months after diagnosis [8]. The other, a five-year old, however, reached sustained remission after intensive chemotherapy [10]. To the best of our knowledge we here describe the first adult patient with NBS and HL.…”

Successful SCT for Nijmegen breakage syndrome

“…6,7,18,19 However, a high rate of treatment failures and secondary lymphoid malignancies has been observed. In a study by Dembowska-Baginska et al 6 2 of 17 NBS patients with lymphoma experienced a different secondary lymphoid malignancy and 9 of 17 died from their malignant disease.…”

“…Humoral immunity was impaired in five of six patients. Four of the patients developed lymphoid malignancy at a median age of 12 years (range [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19]. One patient experienced a second, different lymphoid malignancy 8 years after chemotherapy for his first malignancy.…”