P078 Aggressive T-anaplastic large cell non-Hodgkin lymphoma in patient with chromosome breakage syndrome - a case report

Aim: Several genetically transmitted disorders with chromosomal instability, summarized as "human chromosome breakage syndromes", are strikingly associated with the malignant predisposition. Methods: In this case report we presented a 43-year-old Caucasian man with aggressive T-anaplastic large cell non-Hodgkin lymphoma (T-ALCL) and "chromosome breakage syndrome" . Results: A 43-year-old Caucasian man was admitted to our institution in 2007 because of aggressive NHL (T-ALCL). A rare autosomal recessive genetic disorder named Bloom's syndrome was diagnosed in 1979, at the age of 15, as well as to his sister. Bloom's syndrome is characterized by sun-sensitive erythematous skin lesions, shortness of stature, variable degrees of immunodeficiency, and increased risk for development of different types of neoplasms, including hematological malignancies. Further diagnosis later in his life suggested not specifically defined type of "chromosome breakage syndrome". He had photosensitivity of the skin, growth deficiency, several bone fractures and frequent pneumonia during his life, with development of severe chronic obstructive pulmonary disease. In 2007 he was admitted to our institution due to generalized lymphadenopathy, hepatomegaly and ascites. Diagnosis was T-ALCL. Cytogenetic analysis of lymph node revealed complex kariotype in 12 metaphases including i(8q), and only clonal i(8q) in 4 metaphases in peripheral blood. During hospitalization he had a grand-mal attack, but CNS involvement with lymphoma was not confinned. Because of his comorbidity, he received reduced CNOP treatment. Unfortunately, after the first cycle of chemotherapy he developed severe sepsis with general respiratory insufficiency, and died. Conclusion: A growing body of evidence implicates genetic instability as one of the important steps in the process of carcinogenesis. Therefore, assessment of patients with "chromosome breakage syndrome" and subsequent chromosomal instability should presume substantial risk of cancer development. With other comorbidities, treatment of neoplasm in such patient could be very difficult with adverse outcome.