Renal dysplasia/hypoplasia, Williams Syndrome phenotype and non-Hodgkin lymphoma in the same patient: only a coincidence?

Abstract

Congenital renal anomalies, Williams Syndrome and non-Hodgkin lymphoma all occur separately at low incidence, so their simultaneous presence in the same patient is exceptional. We present a young patient manifesting all three conditions. This child is a boy with a Williams Syndrome phenotype who was diagnosed with severe chronic kidney disease secondary to bilateral renal dysplasia/hypoplasia. Due to his small size, he received treatment with growth hormone. He progressed to end stage kidney disease and, after 8 months, a renal transplant was performed. A number of suspicious abdominal adenopathies were removed during the surgery and, thereafter, immunosupressive treatment with prednisone, azathioprine and cyclosporine was initiated. Examination of the biopsy tissue confirmed the presence of a T-cell lymphoblastic lymphoma. Appropriate chemotherapy was given, and the immunosupressive regimen was eventually reduced to prednisone alone. Now, 8 years since the initial diagnosis of T-cell lymphoblastic lymphoma and 6 years after the completion of the chemotherapy, the patient is still in complete remission with a functional donor kidney. We discuss some possible explanations of this association. Chemotherapy has not appeared to have affected the viability of the grafted kidney and, in fact, it may even have induced immunotolerance.

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

“…Although WBS does not predispose carriers to cancer, there have been single reports of non-Hodgkin lymphoma and 1 case report of acute lymphoblastic leukemia (ALL) in children with WBS. [12][13][14][15][16][17][18][19][20] Most ALL cases have some degree of karyotypic instability and congenital chromosomal abnormalities that persist in leukemic cells.…”

“…To the best of our knowledge, only a few cases of malignancies in patients with WBS have been published in hematologic malignancies and solid tumors, and only 1 young male child with WBS who was diagnosed with severe chronic kidney disease confirmed the presence of a T-cell lymphoblastic lymphoma after receiving GH replacement therapy. [ 14 ] Herein, we present a rare case of T-cell ALL (T-ALL) in a child with WBS. Our study also identified other mutations and chromosomal abnormalities; however, the patient responded well to the CCCG-ALL-2020 chemotherapy.…”