1.Profiling of genetic mutations among adult Filipino patients diagnosed with Acute Myeloid Leukemia using fluorescence in situ hybridization from 2014 to 2021: A single-institution study.
Aaron Pierre Calimag ; Januario Antonio Veloso, Jr.
Philippine Journal of Pathology 2023;8(1):21-26
INTRODUCTION:
Among patients with Acute Myeloid Leukemia (AML), the karyotype at diagnosis is an
important prognostic indicator for predicting outcomes. Several studies have been done to identify the
most common cytogenetic abnormalities seen in patients in other countries, however, limited studies have
been done in our setting.
OBJECTIVE:
The study aims to determine the most common abnormalities present among patients with AML
referred for Fluorescence in situ Hybridization (FISH) at the National Kidney and Transplant Institute.
METHODOLOGY:
The study included 131 adult patients with a mean age o 46. Fluorescence in situ Hybridization
was used to identify the following cytogenetic abnormalities: t(8;21), 11q23 (MLL), 16q22 (CBFB-MYH11),
t(15;17) (PML/RARA), t(9;22) (BCR/ABL), 7q31 deletion, and Monosomy 7.
RESULTS:
FISH was negative in 40% (n=53) of patients. 7q31 deletion is the most frequently identified
cytogenetic abnormality among patients with a single abnormality (n=17, 13%) present and is the most
frequently identified abnormality among patients with multiple abnormalities (n=26). 7q31 deletion is more
frequently observed among patients between the ages 51 to 60 years old and among patients with AML
with monocytic differentiation. 22% (n=29) of patients have multiple abnormalities, with the most common
abnormalities to occur together are 7q31 deletion and t(8;21) (n=20, 15%). Patients with negative results and
patients with multiple cytogenetic abnormalities are commonly seen within the 41 to 50 age group.
CONCLUSION
The current study provides a single-institution view of the cytogenetic abnormalities among
adult Filipino patients with AML using FISH. Further investigation on the clinical history of these patients,
with correlation with other methods, as well as epidemiologic studies are needed to better understand
the similarities and differences seen from previously reported incidences.
acute myeloid leukemia
;
fluorescence in situ hybridization
;
cytogenetics
;
profiling
;
hematology
;
Filipino