Could a Philadelphia chromosome be diagnosed by PCR?
We have shown that PCR can detect the bcr-abl gene of CML using material from glass-slide smears.
How is CML detected?
Most people are diagnosed with CML through a blood test called a complete blood count (CBC) before they have any symptoms. A CBC counts the number of different kinds of cells in the blood. A CBC is often done as part of a regular medical checkup. People with CML have high levels of white blood cells.
Do ALL CML patients have Philadelphia chromosome?
The Philadelphia chromosome is seen in more than 90% of patients with CML but also in 5% or less of children with ALL (20% of adult ALL) and in 2% or less of children with AML. Different isoforms of the fusion gene may be present in ALL.
Are ALL CML Philadelphia positive?
The presence of this translocation is required for diagnosis of CML; in other words, all cases of CML are positive for BCR-ABL1.
|A metaphase cell positive for the bcr/abl rearrangement using FISH|
How is Philadelphia chromosome diagnosed?
Cells in a sample of blood or bone marrow are grown in the laboratory and then examined to determine if the Philadelphia chromosome is present. Other chromosomal abnormalities can also be detected. This test method uses fluorescent dye-labeled probes to “light up” the BCR-ABL1 gene sequence when it is present.
What is the test for Philadelphia chromosome?
A BCR-ABL test is most often used to diagnose or rule out chronic myeloid leukemia (CML) or a specific form of acute lymphoblastic leukemia (ALL) called Ph-positive ALL. Ph-positive means a Philadelphia chromosome was found. The test is not used to diagnose other types of leukemia.
When should you suspect CML?
Doctors may suspect you have CML if routine blood tests reveal elevated levels of both mature and immature white cells in the blood. Symptoms include fatigue, fever, and night sweats.
Can you have CML with normal WBC?
Rarely, CML patients may present with a normal or mildly elevated WBC and are asymptomatic, and we describe 7 patients in this study. The WBC in these patients ranged from 3.6 to 14.3 K/mm(3) with 50% to 73% granulocytes and 0% blasts.
Which of the following is the most common physical finding in CML?
Splenomegaly is the most common physical finding in patients with chronic myelogenous leukemia (CML). In more than 50% of the patients with CML, the spleen extends more than 5 cm below the left costal margin at time of discovery.
Which chromosomal abnormality is diagnostic in CML?
CML is usually diagnosed by finding a specific chromosomal abnormality called the Philadelphia (Ph) chromosome (see figure), named after the city where it was first recorded. The Ph chromosome is the result of a translocation—or exchange of genetic material—between the long arms of chromosomes 9 and 22 .