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
2.R-CHOP and consolidation radiotherapy for limited-stage and low-IPI high-grade b-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements: A single-center case series and review of literature
Joseff Karl U. Fernandez ; Michael D. San Juan ; Edilberto Joaquin V. Fragante, Jr. ; Billionario Januario Antonio D. Veloso, Jr. ; Timothy Carl F. Uy ; Michelle Regina L. Castillo ; Benedict Mihangel P. Crisostomo
Acta Medica Philippina 2024;58(Early Access 2024):1-11
High-Grade B-Cell Lymphoma (HGBCL) with gene rearrangements in MYC and BCL2 and/or BCL6 is an aggressive malignancy usually presenting in advanced stages. Current recommendations suggest the use of regimens more intensive than R-CHOP (rituximab, cyclophosphamide, vincristine, doxorubicin, prednisone), which are based on retrospective studies and single-arm prospective trials that included patients who are mostly in the advanced stage, and did not receive consolidation radiotherapy.
The optimal approach and treatment of HGBCL, whether limited-stage (LS) or advanced-stage, remains to be
determined. Here we describe the promising outcomes of three patients with LS and low IPI HGBCL with the use of R-CHOP as induction chemotherapy regimen, which was followed by consolidation radiotherapy.
Three women, 54-, 60-, and 64-years of age diagnosed to have HGBCL with MYC, and BCL2 and/or BCL6 rearrangements, with Ann Arbor stages I-IIE were included in this case series. All three patients had complete metabolic response to 6 cycles of R-CHOP and was subsequently treated with consolidation involved site radiotherapy (ISRT; total dose 30-36 Gy). Chemotherapy and radiotherapy were tolerated very well. All patients remain to be in remission, with the longest being at 23 months.
Outcomes of patients with HGBCL generally remain to be poor, but this may not be the case for patients with
limited-stage disease and favorable clinicopathologic risk profile. Nevertheless, the treatment of HGBCL is currently evolving and more studies are needed to determine the ideal approach and preferred chemotherapy regimen. Also, more studies are needed to elucidate the potential role of consolidation radiotherapy in patients with limited-stage HGBCL to improve survival outcomes. Findings of this case series suggest that patients with LS HGBCL may still derive benefit from R-CHOP followed by consolidation ISRT, but prospective trials are needed to confirm this.