Clin Pediatr Hematol Oncol.  2010 Oct;17(2):196-203.

p16 Deletion Fluorescence in situ Hybridization in Childhood Acute Lymphoblastic Leukemia

• Park EK
• Kang SJ
• Kim SY
• Kang JW
• Lim YJ
• Lee YH
• Lee CH

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.

Keyword

Genes; p16; Acute lymphoblastic leukemia; Childhood; in situ hybridization; Fluorescence

MeSH Terms

B-Lymphocytes
Child
Chromosome Aberrations
Fluorescence
Humans
In Situ Hybridization
Incidence
Induction Chemotherapy
Interphase
Karyotype
Leukemia
Neoplasm, Residual
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Retrospective Studies
T-Lymphocytes