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Cytogenetic analysis and immunophenotyping provide essential information to the physician concerning the initial classification, treatment and prognosis of leukemias, lymphomas, and lymphoproliferative diseases. These techniques and additional molecular tests can also be instrumental in assessing the efficacy of treatment protocols and monitoring remission states.
CYTOGENETIC ANALYSIS
Many leukemias, lymphomas, myeloproliferative disorders and tumors are associated with specific cytogenetic abnormalities. Identifying these abnormalities by chromosome analysis can help to define the type of cancer and in some cases subsequently indicate treatment protocols and prognosis.
Some specific chromosomal abnormalities include:
- Chronic myelogenous leukemia (CML) -t(9;22) in >90% of CML cases
- Polycythemia vera (PV) - del (20q) in 27% of abnormal cases
- Myleoproliferative disorder (MPD), Trisomy 8, Monosomy 7 in myelofibrosis with agnogenic myeloid metaplasia
- Acute myelogenous leukemia (M2) - t(8;21) in 38% of cases
- Acute promyelocytic leukemia (M3) (APL) - t(15;17) in most cases
- AML with eosinophilia (M4eo) - inv(16) in 20% of cases
- Acute lymphocytic leukemia (ALL), t(4:11), t(9:22), t(8;14), t(12;21), t(1;19) and hyperdiploidy (>50 chromosomes)
- Chronic lymphocytic leukemia (CLL) - 13q-, 14q+, Trisomy 12
- NonHodgkins lymphoma - t(8;14), t(11;14), t(14;18)
- Myelodysplastic syndrome (MDS) - 5q-, Monsomy 5 or 7, 12p or 17p abnormalities
- Ewing’s Sarcoma - t(11;22)(q24;q12)
With the exception of CML and APL which often have a high percentage of individuals with a unique chromosomal abnormality, other cancers may have a patient specific clonal abnormality. A chromosomal analysis examines all of the chromosomes and can detect more abnormalities than a molecular probe specific for 1 or 2 chromosome regions.
MOLECULAR ANALYSIS
After a chromosome analysis has identified an abnormal clone, molecular analysis utilizing fluorescent in situ hybridization (FISH) with a specific DNA probe can identify low percentages of abnormal cells in the bone marrow or peripheral blood after treatment to monitor remission states. FISH testing often detects abnormal cells present before clinical symptoms reappear. Molecular analysis can provide a better assessment of the ratio of abnormal to normal cells present in a specimen which does not grow well in tissue culture. FISH testing can also assess graft acceptance / rejection in sex-mismatched bone marrow transplants.
FISH ANALYSES
- bcr/abl t(9;22) on metaphase chromosomes or interphase cells
- HER2 on metaphase chromosomes or interphase cells
- Trisomy 8
- Trisomy 12
- Monosomy 7
- 5q-
- 20q-
- inv(16)
- X & Y
Please call GeneCare at (800) 277-4363 for information on FISH tests.
IMMUNOPHENOTYPING
Immunophenotyping sorts leukemia and lymphoma cells by flow cytometry according to their cell surface, cytoplasmic and nuclear analysis. A profile of monoclonal antibodies is used to characterize the cancer cells. The presence or absence of certain antigens can have prognostic implications. For example, CD10/common acute lymphoblastic leukemia antigen (CALLA) is a favorable prognostic indicator in childhood ALL.
SPECIMEN TRANSPORT AND COLLECTION
PRIORITY OVERNIGHT including specimens for Saturday Deliveries by Federal Express (800) 238-9070
- Call GeneCare at (800) 277-4363 for consult and questions about testing or transport
- Complete test Request Form
- Label each specimen tube with patient name, birth date and collection date
- Transport by courier or
Please notify our Center of specimen collection and transport to insure successful delivery. Specimens are accepted 7 days a week. SPECIMEN
CHROMOSOME - BLOOD: Draw 1-10 ml peripheral vein, cord, or cardiac (less than 12 hours after fetal death) blood into a sodium heparinized (200 units) vacutainer or plastic BD syringe. Blood drawn in a syringe should be gently transferred to a green top (Na Heparin) vacutainer for transport. Patients should avoid fatty foods and alcohol 12 hours before blood draw.
CHROMOSOME - BONE MARROW OR LEUKEMIC BLOOD (See Blood): Obtain bone marrow specimens Monday through Thursday. Draw 200 units of Sodium Heparin into a 5 or 10 ml BD syringe. Using a non-heparinized syringe, draw the Hematology specimen. Then attach the heparinized syringe to the spinal needle and draw 2 ml of bone marrow for chromosome study. Immediately cap syringe and mix heparin with specimen by inverting syringe. Gently transfer bone marrow specimen to red top vacutainer with new large gauge needle ASAP. Peripheral blood can be substituted only if bone marrow cannot be obtained and patient has a WBC count of 25,000 or greater and documented 5% circulating blasts.
NOTE: Chromosome lab needs to know the WBC count, a provisional diagnosis and chemotherapy or X-ray treatments.
CHROMOSOME - SOLID TUMOR excise aseptically a viable, nonnecrotic 1cm3 piece of fresh tumor tissue. Place in a tube of tumor media supplied by our Center. If more than one tumor site is sampled, place each sample in a separate container.
TURNAROUND TIME
The turnaround time for bone marrow specimens average 4 days. STAT preliminary results are available upon request. Solid tumor analysis averages 7-8 days.
RESULT REPORTING
GeneCare promptly reports results in the manner chosen by the practices we serve. We report results by telephone, fax, e-mail and/or mail.
All abnormal results are promptly telephoned to the designated contact by one of our medical staff.