QS148. Associated Malignancies With Cockayne Syndrome. A Case Report of One Family and Review of The Literature

Abstract

Introduction: Cockayne syndrome is a rare autosomal recessive genetic disorder. Patients with this disorder exhibit premature aging, cachetic dwarfism, lack of subcutaneous fat, neurological alterations, light insensitivity, and failure to thrive. The syndrome results from proteins that are defective in DNA repair and transcription. As the DNA damage accumulates, it can lead to malfunctioning cells or cell death, and the signs and symptoms of Cockayne syndrome. The aim of this review is to present a mother, brother and sister with the Cockayne Syndrome, to investigate the genetic disorder’s association with neoplasms, and discuss the implications of this association. Patients: Patient number one is a 34 year-old, 32 pound female with Cockayne syndrome. At the age of 25, she was admitted to the hospital with bloody stools and a palpable abdominal mass. Colonoscopy demonstrated a large polypoid, splenic flexure mass; a biopsy showed adenocarcinoma. She underwent definitive treatment for a Stage III, moderately to poorly differentiated adenocarcinoma. About one year later a routine screening CT scan of the abdomen and pelvis identified a 6 cm right hepatic mass; a biopsy established that it was a metastasis of colonic origin and a subsequent right hepatic lobectomy was performed. There has been no evidence of recurrence to date. Patient number two is 62 years old, has Cockayne syndrome, and is the mother of patient number one. She presented with a non-tender abdominal mass. CT scan of the abdomen and pelvis demonstrated a 15 cm abdomino-pelvic mass arising from the left ovary. A left salpingo-oophorectomy and small bowel resection was performed. Final pathology showed a Stage A adenocarcinoma of the left ovary. She has had no further diagnosed malignancies since. Patient number three, the 36 year-old brother of patient number one, also has Cockayne syndrome. He presented with a 4 cm fungating mass on his left ankle that was excised. The final pathology report showed a benign vascular neoplasm. No other neoplasms have been diagnosed in this patient. Conclusion: Cockayne syndrome is characterized by growth failure and multisystem progressive degeneration. Although the syndrome arises from a deficiency in DNA repair, neoplasms, are not often reported in association with this syndrome. Interestingly, all three individuals in a family afflicted with Cockayne syndrome we were following at our community hospital were diagnosed with a neoplasm. We report and describe Cockayne syndrome in this Italian immigrant family, along with their associated neoplasms as a unique cluster that has never before been described.