Cytogenetic philadelphia chromosome. Medical search. Frequent questions

The study of chromosomes and their abnormalities is known as cytogenetics. (wakehealth.edu)
Chromosome abnormalities constitute a major category of medical genetic disorders. (wakehealth.edu)
To identify chromosome abnormalities detectable by routine cytogenetic analysis. (wakehealth.edu)
To identify chromosome abnormalities that can be detected by routine cytogenetic analysis. (wakehealth.edu)
She got a grant to study chromosomes and, when she returned to Chicago, even though she had "no special interest in chromosome abnormalities in hematological diseases," the course of her research was set by her ready response to clinical colleagues who frequently asked her to study their patients. (laskerfoundation.org)
To develop the most appropriate disease management plan for you, your doctor will take into consideration the phase of the CML, the presence of chromosome abnormalities and your general health. (patientresource.com)
Cells collected from the bone marrow or peripheral blood will contain the Philadelphia chromosome, and cytogenetic tests (tests that detect chromosomal abnormalities) are used to monitor response to therapy. (broomeoncology.com)
31 patients out of these were found to have additional chromosomal abnormalities at the time of diagnosis in addition to BCR-ABL fusion gene or Philadelphia chromosome detection. (waocp.com)
1 patient had deletion 7 whereas 1 had variant Philadelphia chromosome with other chromosomal abnormalities. (waocp.com)
Treatment failure had been shown to have direct correlation with additional cytogenetic abnormalities (ACAs) which can be interpreted as clonal evolution and chromosomal instability [2-3]. (waocp.com)
Other abnormalities may include an extra Philadelphia chromosome, trisomy 8, trisomy 19 and isochrome 17q with loss of p53 or 20q [8]. (waocp.com)
Therefore, cytogenetic analysis is not only essential to establish the diagnosis of CML and to assess treatment response but also has prognostic significance if additional cytogenetic abnormalities are detected [5]. (waocp.com)
Although complex karyotype (CK) defined as ≥ 3 cytogenetic abnormalities is an adverse risk factor in adult AML, its prognostic impact on childhood AML remains. (biomedcentral.com)
Myelodysplastic syndrome (MDS), a heterogeneous group of hematopoietic malignancy, has been shown to present different cytogenetic abnormalities, risk factors, and clinico-hematological features in different p. (biomedcentral.com)

Currently the majority of newly diagnosed patients with CML will achieve a complete cytogenetic remission (no evidence of Philadelphia chromosome-positive cells). (broomeoncology.com)

However, 30-40 percent of imatinib patients do not achieve confirmed cytogenic complete response (CCyR), or the absence of the defective chromosome that causes the disease, within a year. (mdanderson.org)
Secondary endpoints included rate of and times to CCyR and major molecular response (MMR), defined as a level of .1 percent or lower of the defective chromosome, as well as safety. (mdanderson.org)
Landmark trial IRIS showed that the first generation TKI Imatinib mesylate led to a complete cytogenetic response (CCyR) in 87% of the patients. (waocp.com)
Tasigna also showed a statistically significant improvement over Gleevec in every other measure of efficacy in the trial, including major molecular response (MMR) and complete cytogenetic response (CCyR) at 12 months(1). (salesandmarketingnetwork.com)
Complete Hematologic Response (CHR) is when clinical presentations return to normal meanwhile, Complete Cytogenetic Response (CCyR) is when Ph is not detected. (biomedcentral.com)

More importantly, in patients with a complete cytogenetic remission a test called polymerase chain reaction (PCR) can determine the completeness of a "molecular" remission by measuring the presence of the BCR-ABL gene. (broomeoncology.com)
FISH was a reliable tool for the detection of chromosome translocations in interphase nuclei as compared with conventional cytogenetic and polymerase chain reaction (PCR) techniques. (tau.ac.il)

It was only four years earlier that the precise number of human chromosomes had been fixed at 46 and chromosome studies were, by today's standards, quite primitive. (laskerfoundation.org)
Human autosomes , the non-sex human chromosomes, are integral components of the human genome . (biologyonline.com)

Compare clinical response, in terms of 1-year progression-free survival and rate of molecular complete remission, in patients with Philadelphia chromosome-positive chronic myelogenous leukemia (Ph+ CML) in chronic phase who have achieved a complete cytogenetic remission to single-agent tyrosine kinase inhibitor treated with interferon alfa and sargramostim (GM-CSF) vs tyrosine kinase inhibitor and GM-K562 cell vaccine. (knowcancer.com)

Over time, genes that were beneficial for males and harmful to (or had no effect on) females either developed on the Y chromosome or were acquired through the process of translocation. (wikipedia.org)
Rowley had identified the first "translocation" in cancer, providing clear evidence that the cause of CML could be related to the fact that by moving from one chromosome to another, the aberrant segment of chromosome 22 was no longer sitting next to genes that controlled its behavior. (laskerfoundation.org)
The characteristic molecular abnormality is the presence of Philadelphia chromosome or BCR-ABL fusion gene which is the result of 9:22 translocation. (waocp.com)
It is characterized by the translocation between chromosome 9 and 22 resulting in fusion gene BCR-ABL that forms the basis of pathogenecity of CML [2-3]. (waocp.com)
Major cytogenetic aberrations commonly encountered are variant Philadelphia translocation in 5 to 10 percent of patient. (waocp.com)
Chronic myeloid leukemia (CML) is a myeloproliferative disease caused due to translocation between chromosome 9 and 22 leading to a chimeric gene product known as Bcr-Abl. (eurekaselect.com)
Stone, M. Translocation of C-Abl oncogene correlates with the presence of a philadelphia chromosome in chronic myelocytic leukaemia. (eurekaselect.com)

CML is associated with a chromosomal abnormality in which genetic material from chromosome 9 is transferred to chromosome 22. (broomeoncology.com)
The presence of any cytogenetic abnormality in addition to a Philadelphia chromosome. (broomeoncology.com)
Almost all patients with CML have an abnormality known as the Philadelphia chromosome, which produces a protein called Bcr-Abl. (salesandmarketingnetwork.com)

We describe the use of the fluorescence in situ hybridization (FISH) technique to detect residual Philadelphia chromosome-positive (Ph+) cells in a patient with blastic phase chronic myelogenous leukemia (CML) after aggressive cytoreductive treatment. (tau.ac.il)

Bosutinib is indicated for the treatment of adult patients with chronic phase (CP), accelerated phase (AP), and blast phase (BP) Philadelphia chromosome positive chronic myelogenous leukaemia (Ph+ CML) previously treated with one or more tyrosine kinase inhibitor(s) and for whom imatinib, nilotinib and dasatinib are not considered appropriate treatment options. (cmlsupport.org.uk)
Bristol-Myers Squibb Co. reported positive results from an ongoing phase 2 trial evaluating Sprycel in patients aged 18 years or younger with newly diagnosed chronic myeloid leukemia or Philadelphia chromosome-positive leukemias resistant to or intolerant of imatinib. (spglobal.com)
Patients resistant to or intolerant of imatinib who received Sprycel demonstrated a cumulative major cytogenetic response rate of 55.2% three months into treatment, exceeding the defined threshold of clinical interest of more than 30% for the primary endpoint of the cohort and increasing over time to greater than 90% at 24 months. (spglobal.com)
Sprycel was approved by the U.S. Food and Drug Administration in 2006 for adult patients with Philadelphia chromosome-positive chronic myeloid leukemia in chronic phase who are resistant or intolerant to prior therapy including imatinib. (spglobal.com)
Prospective outcome data on 267 unselected adult patients with Philadelphia chromosome-positive acute lymphoblastic leukemia confirms superiority of allogeneic transplantation over chemotherapy in the pre-imatinib era: results from the International ALL Trial MRC UKALLXII/ECOG2993. (inter-publishing.com)
A phase 2 study of imatinib in patients with relapsed or refractory Philadelphia chromosome-positive acute lymphoid leukemias. (inter-publishing.com)
Imatinib induces hematologic and cytogenetic responses in patients with chronic myelogenous leukemia in myeloid blast crisis: results of a phase II study. (inter-publishing.com)
One hundred and ten patients with Philadelphia chromosome (Ph)-positive chronic phase chronic myelogenous leukemia (CML) post-interferon-α failure treated with imatinib mesylate therapy were analyzed for the prognostic significance of marrow reticulin stain-measured fibrosis. (elsevierpure.com)

Rowley and her colleagues subsequently identified several other signal chromosome translocations, including one characteristic of acute myeloblastic leukemia. (laskerfoundation.org)
Quickly picking up on her lead that translocations contribute to malignancy, scientists around the world joined the search for chromosomes that either switched genetic material or, in some cases, lost it altogether in a process known as "deletion. (laskerfoundation.org)

What made Nowell and Hungerford notice the Philadelphia chromosome, named after the city in which they worked, was its size. (laskerfoundation.org)
Philadelphia chromosome was first discovered by Nowell and Hungerford in 1960 and is the cytogenetic hallmark of CML [2- 4]. (waocp.com)

The exchange of genetic information that produces the Philadelphia chromosome brings together two genes: the BCR (breakpoint cluster region) gene on chromosome 22 and the ABL (Ableson leukemia virus) gene on chromosome 9. (broomeoncology.com)
Two principal breaks occur in the (breakpoint cluster region) gene locus on chromosome 22: the (major) M-BCR, between exons 12 and 16, and the (minor) m-BCR, in the first intron of and m-BCR to that of p185(Abelson tyrosin protein kinase 1) gene on chromosome 9 falls within the intron between the exons 1 and 2. (bios-mep.info)

A piece of chromosome 9 and a piece of chromosome 22 break off and trade places. (hartfordhealthcare.org)
The BCR-ABL gene is formed on chromosome 22 where the piece of chromosome 9 attaches. (hartfordhealthcare.org)
Moreover, a tiny piece of chromosome 9, which carried an oncogene, had moved to the breakpoint on chromosome 22. (laskerfoundation.org)

A 24-year-old man with Philadelphia-chromosome (Ph)-negative chronic myelocytic leukemia (CML) developed lymphoid blast crisis. (karger.com)

The Philadelphia chromosome creates the BCR-ABL1 protein (also known as a tyrosine kinase). (patientresource.com)
Tyrosine kinase inhibitors (TKIs) are used to block the action of the abnormal kinase created by the Philadelphia chromosome. (patientresource.com)
Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.org)
Failure to achieve a complete hematologic response at the time of a major cytogenetic response with second-generation tyrosine kinase inhibitors is associated with a poor prognosis among patients with chronic myeloid leukemia in accelerated or blast phase. (aboutscience.eu)

Cytogenetic analysis of Hematology-Oncology specimens for leukemia and solid tumors is available. (wakehealth.edu)
Nowell collaborated with the late David Hungerford who, he says, "knew more about chromosomes than I did," and together they made the startling observation that individuals suffering from chronic myelogenous leukemia (CML) had an abnormally small chromosome in the tumor cells. (laskerfoundation.org)
Tasigna 200 mg is intended for the treatment of adults suffering from chronic Philadelphia chromosome-positive chronic myeloid leukemia. (medexmd.com)
The hallmark of Philadelphia chromosome positive (Ph+) leukemia is the BCR/ABL kinase, which is successfully targeted by selective ATP competitors. (bios-mep.info)
It is also an FDA-approved treatment in adult patients with Philadelphia chromosome-positive lymphoblastic leukemia who are resistant or intolerant to prior therapy. (spglobal.com)
q11) results in the Philadelphia chromosome (Ph), which is an ideal marker of chronic myeloid leukemia (CML). (inter-publishing.com)
On September 26, 2023, bosutinib (Bosulif) was approved for pediatric patients aged 1 year and older with chronic-phase Philadelphia chromosome-positive chronic myeloid leukemia (CML) that is newly diagnosed or resistant or intolerant to prior therapy.1 New capsule dosage form strengths of 50 mg. (ascopost.com)
EAST HANOVER, N.J., Feb. 19 -- (Healthcare Sales & Marketing Network) -- Novartis announced today that Tasigna (nilotinib) 200 mg capsules has been granted priority review by the US Food and Drug Administration (FDA) for the treatment of adult patients with newly diagnosed Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase. (salesandmarketingnetwork.com)
Although, molecular genetic analyses became more and more important to guide therapy decisions in leukemia, banding cytogenetic analysis has retained its vital role in diagnosis and monitoring of chronic myelo. (biomedcentral.com)
The US Food and Drug Administration (FDA) has approved bosutinib (Bosulif, Pfizer) for pediatric patients aged 1 year or older with chronic phase Philadelphia chromosome positive (Ph+) chronic myelogenous leukemia (CML) that is either newly diagnosed or resistant/intolerant to prior therapy. (medscape.com)

A dose escalation of up to 600 mg is permitted if a complete haematological response has not occurred by week 8 or a complete cytogenetic response by week 12. (cmlsupport.org.uk)
The efficiency of this drug depends mostly on hematologic and cytogenetic response rates. (medexmd.com)
Newly diagnosed patients achieved a cumulative complete cytogenetic response rate, the primary endpoint in the cohort, of 64% as early as six months into treatment, exceeding the defined threshold of clinical interest more than 55% and increasing over time to 94% at 24 months. (spglobal.com)
The effectiveness of Tasigna for this indication is based on confirmed hematologic and unconfirmed cytogenetic response rates. (salesandmarketingnetwork.com)
Among the 21 children with newly diagnosed chronic phase, Ph+ CML treated with 300 mg/m 2 , the rate of major cytogenetic response was 76.2%, the rate of complete cytogenetic response was 71.4%, and the rate of major molecular response rate was 28.6% over a median duration of 14.2 months. (medscape.com)
Among the 28 children with relapsed/intolerant disease treated with up to 400 mg/m 2 , the rate of major cytogenetic response was 82.1%, the rate of complete cytogenetic response was 78.6%, and the rate of major molecular response was 50% over a median duration of 23.2 months. (medscape.com)

Chromosome analysis, or karyotype, refers to the ordered pairing of homologous chromosomes. (wakehealth.edu)
After photographing chromosomes under a microscope, researchers literally cut them up, like paper dolls, and arranged them according to size, thereby producing a karyotype. (laskerfoundation.org)

The tiny Philadelphia chromosome became a clear and consistent marker of CML, a cancer of the myeloid or bone marrow cells, with broad implications for diagnosis and prognosis of disease. (laskerfoundation.org)

The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing. (metasystems-probes.com)

Multicolor banding, chromosomal microarray analysis, chromosome microdissection with reverse painting, and single-copy sequencing of the rearranged chromosome were performed to determine the length and position of the inverted region as well as to rule out a genetic imbalance at the breakpoints. (metasystems-probes.com)

Using yet newer techniques for detecting abnormal chromosomes (called spectral karyotyping), Rowley found a chromosomal rearrangement that characterizes one of the childhood leukemias, and her work continues. (laskerfoundation.org)
The Philadelphia chromosome causes an overgrowth of this abnormal kinase. (patientresource.com)
The spleen may enlarge and/or new abnormal chromosomes can be detected in the bone marrow cells. (broomeoncology.com)

The X and Y chromosomes are thought to have evolved from a pair of identical chromosomes, termed autosomes, when an ancestral animal developed an allelic variation, a so-called "sex locus" - simply possessing this allele caused the organism to be male. (wikipedia.org)
[18] This re-estimation of the age of the therian XY system is based on the finding that sequences that are on the X chromosomes of marsupials and eutherian mammals are present on the autosomes of platypus and birds. (iiab.me)
Autosomes can be described as the non-sex chromosomes that play diverse roles in the human body like harboring genes for the body's metabolism, functioning, and growth. (biologyonline.com)
The human genome is composed of 23 pairs of chromosomes, with autosomes (22 pairs) comprising the majority. (biologyonline.com)

Conventional cytogenetic analysis performed for each patient at the time of diagnosis revealed that 11 (35.5%) of patients had variant Philadelphia chromosome followed by 7 patients (22.6%) with trisomy 8. (waocp.com)

A phase I study determined suitable dosing for children with Philadelphia chromosome-positive (Ph+) leukemias. (eur.nl)

Cytogenetic studies detect the presence or absence of the Philadelphia chromosome and help to differentiate myeloproliferative disorders from myelodysplastic syndrome. (medscape.com)

Cytogenetic testing in this area is used for diagnosis, classification of disease, determining treatment regimens, and to monitor disease status and recovery. (wakehealth.edu)

Bone marrow aspiration and biopsy with cytogenetic studies are required in most, but not all, patients. (medscape.com)
I came to realize that there were many questions about chromosome changes in patients that would be rewarding to study," noted Rowley, and for the next decade she labored over the microscope looking at chromosomes in leukemic cells. (laskerfoundation.org)
In fact, she showed that in patients with CML, a crucial segment of chromosome 22 broke off and moved to chromosome 9, where it did not belong. (laskerfoundation.org)
Nilotinib is intended for the treatment of adult patients with chronic (long-term) or quickly growing types of CML, which is called Philadelphia chromosome positive. (medexmd.com)
A total of 180 patients with leukocytosis, 150 of them had Philadelphia chromosome-positive with a mean age of 52.86 ± 13.9 (range: 29-80) years were collected. (inter-publishing.com)

In 1960, Peter Nowell discovered the "Philadelphia chromosome. (laskerfoundation.org)

Y is normally the sex-determining chromosome in many species, since it is the presence or absence of Y that determines the male or female sex of offspring produced in sexual reproduction. (wikipedia.org)
She realized that the previous idea of Clarence Erwin McClung, that the X chromosome determines sex, was wrong and that sex determination is, in fact, due to the presence or absence of the Y chromosome. (wikipedia.org)

In addition to routine chromosome analysis, we perform high-resolution and specialized banding techniques. (wakehealth.edu)

Genes of the Y chromosome is passed only from male parents to male offsprings over generations. (wikipedia.org)
The human Y chromosome carries 693 genes, with 107 of these being protein-coding, but some genes are repeated and that makes the number of exclusive protein-coding genes just 42, the numbers are given for telomere-to-telomere CHM13. (wikipedia.org)
All single-copy Y-linked genes are hemizygous (present on only one chromosome) except in cases of aneuploidy such as XYY syndrome or XXYY syndrome. (wikipedia.org)
The Y chromosomes of humans and other mammals also contain other genes needed for normal sperm production. (wikipedia.org)

The Y chromosome was identified as a sex-determining chromosome by Nettie Stevens at Bryn Mawr College in 1905 during a study of the mealworm Tenebrio molitor. (wikipedia.org)
Stevens proposed that chromosomes always existed in pairs and that the smaller chromosome (now labelled "Y") was the pair of the X chromosome discovered in 1890 by Hermann Henking. (wikipedia.org)
Stevens named the chromosome "Y" simply to follow on from Henking's "X" alphabetically. (iiab.me)

Little is known about the role of the fusion protein encoded by the reciprocal derivative chromosome 9, the ABL/BCR. (bios-mep.info)

At a time when the idea that cancer had a genetic basis was widely disbelieved, Nowell's results provided the first clear evidence that a particular genetic defect in a single chromosome can lead to a population or clone of identical cells that accumulate in numbers to form a deadly malignancy. (laskerfoundation.org)

Presence of Philadelphia chromosome/BCR-/4BL fusion gene. (pocketdrugguide.com)

With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome. (wikipedia.org)
In the early 1920s Theophilus Painter determined that X and Y chromosomes determined sex in humans (and other mammals). (wikipedia.org)

When we discuss the core concepts of Genetics , chromosomes are the first word that pops into our minds. (biologyonline.com)

The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. (wikipedia.org)
In mammals, the Y chromosome contains the gene SRY, which triggers development of male gonads. (wikipedia.org)
Most therian mammals have only one pair of sex chromosomes in each cell. (wikipedia.org)
In mammals, the Y chromosome contains a gene, SRY, which triggers embryonic development as a male. (wikipedia.org)

All chromosomes normally appear as an amorphous blob under the microscope and only take on a well-defined shape during mitosis. (wikipedia.org)
It is entirely coincidental that the Y chromosome, during mitosis, has two very short branches which can look merged under the microscope and appear as the descender of a Y-shape. (wikipedia.org)

fusion quantification is used for minimal residual disease (MRD) assessment of Philadelphia chromosome positive (Ph+) ALL. (arupconsult.com)
Possible approaches for cytogenomic assessment of couples with balanced chromosome rearrangements and problems like reproductive failures were considered and suggested as useful part of effective genetic counseling. (metasystems-probes.com)

to give a view of the clinical diagnostic importance of Philadelphia chromosome CML and role of Philadelphia in comparison to morphology. (inter-publishing.com)

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