소아급성림프구성 백혈병에서 p16 결실 FISH의 의의

Abstract

Purpose: Cytogenetic abnormalities are one of the most reliable prognostic factors in acute leukemia. This study estimated the incidence of the p16 deletion to demonstrate the usefulness of interphase fluorescence in situ hybridization (FISH) in the initial diagnosis of acute lymphoblastic leukemia (ALL) in children. Methods: Thirty-two de novo childhood ALL patients diagnosed from July 2002 to December 2009 were included. For ALL profile tests, FISH probes for the p16 deletion were used with conventional chromosome analysis. We also reviewed the clinical manifestations, laboratory findings, and treatment outcomes retrospectively. Results: The ALL p16 deletion FISH profile test revealed genetic abnormalities in 25.0% (8/32) of the cases, including cases with normal karyotypes (5/8). Immunologic surface marker analysis showed four patients each were B-cell and T-cell ALL. All of the patients attained a complete remission after induction chemotherapy. Four patients had family histories of cancer. No patient relapsed or died. p16 deletion FISH has been used to assess and quantify minimal residual disease in these patients. Conclusion: As a profile test, p16 deletion FISH analysis detects genetic aberrations in a significant proportion of childhood ALL, and was especially effective at detecting cryptic abnormalities. Our study supports the need to incorporate p16 deletion FISH in the initial work-up of childhood ALL.