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Prognostic Factors in Philadelphia Chromosome-Positive Acute Myeloid Leukemia Using Fluorescence in Situ
Background:
Philadelphia chromosome-positive acute myeloid leukemia (Ph+ AML) is a rare leukemia subtype first classified by the World Health Organization in 2016. The incidence of Ph+ AML is approximately 0.5 - 3%, and its prognosis is poor. Ph+ AML with additional chromosomal abnormalities in children has rarely been reported, and its treatment and prognosis remain uncertain.
Methods:
We retrospectively analyzed 649 patients with AML from 2006 - 2021. Six (0.9%) patients with Ph+ AML were identified and treated with conventional chemotherapy. The clinical features and prognoses were retrospectively analyzed.
Results:
Six cases of AML with a Ph chromosome were reported. One of the six individuals exhibited a biphenotypic immunophenotype, one exhibited a simple myeloid immunophenotype, and the other four exhibited myeloid and lymphoid expression. Karyotypic analysis (R banding) was performed in six cases, four of which were classical Ph chromosomal abnormalities, two of which had additional abnormalities outside the Ph chromosome. Fluorescence in situ hybridization (FISH) analysis using the BCR/ABL fusion gene distinguished that the BCR major breakpoint break in three cases was type P210 and the BCR minor breakpoint break in three cases was type P190. The complete remission rate of the six patients in this study using conventional chemotherapy was 60%, with a median survival time of 7.5 months.
Conclusions:
In summary, Ph+ AML is a heterogeneous disease often associated with additional chromosomal abnormalities. Ph+ AML is seen with a lymphoid immunophenotype and alterations in associated genes such as the IGH gene. Adults were predominantly P210 and two cases in children were both P190. Conventional treatments are less effective, and there are no standard treatment regimens.
Insights
Philadelphia chromosome-positive acute myeloid leukemia (Ph+ AML) is a rare and aggressive cancer. Conventional chemotherapy shows limited effectiveness, with a 60% remission rate and a median survival of 7.5 months in this study.
Area of Science:
- Hematology
- Oncology
- Cytogenetics
Background:
- Philadelphia chromosome-positive acute myeloid leukemia (Ph+ AML) is a rare subtype (0.5-3% of AML cases) with a poor prognosis.
- Ph+ AML in children with additional chromosomal abnormalities is poorly understood.
- This study investigates the characteristics and outcomes of Ph+ AML patients.
Purpose of the Study:
- To analyze the clinical features and prognoses of patients with Ph+ AML.
- To evaluate the effectiveness of conventional chemotherapy in treating Ph+ AML.
- To identify potential associations with immunophenotype and genetic alterations.
Main Methods:
- Retrospective analysis of 649 AML patients from 2006-2021.
- Identification and detailed review of six Ph+ AML cases.
- Karyotypic and FISH analysis for chromosomal abnormalities and BCR/ABL fusion types.
Main Results:
- Six cases (0.9%) of Ph+ AML were identified.
- Patients presented with varied immunophenotypes (myeloid, lymphoid, biphenotypic).
- Complete remission rate was 60% with conventional chemotherapy; median survival was 7.5 months.
Conclusions:
- Ph+ AML is a heterogeneous disease, often with additional chromosomal abnormalities.
- Conventional treatments show limited efficacy, and standard regimens are lacking.
- Further research is needed to improve treatment strategies for Ph+ AML.
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