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Cytogenetics and FISH in Hematology

Karyotype and fluorescence in situ hybridization for diagnosis and prognosis

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Cytogenetics and FISH in Hematology?

Conventional cytogenetic karyotyping displays metaphase chromosomes after stimulated cell culture and Giemsa banding. It identifies translocations, deletions, monosomies, trisomies, and complex karyotypes that classify acute and chronic leukemia, myelodysplastic syndromes, and selected lymphomas.

Fluorescence in situ hybridization uses fluorescent probes to detect specific abnormalities on interphase cells, providing rapid results for prognostic markers such as deletion seventeen p in chronic lymphocytic leukemia, t fifteen seventeen in acute promyelocytic leukemia, and BCR ABL one in chronic myeloid leukemia. Sensitivity is higher than karyotype for known targets.

Findings drive therapy. Acute promyelocytic leukemia with PML RARA fusion responds to all trans retinoic acid and arsenic trioxide, BCR ABL one positive disease responds to tyrosine kinase inhibitors, and high risk cytogenetics in acute myeloid leukemia or myelodysplastic syndromes indicate transplant consideration.

Symptoms

Findings drawn from underlying hematologic disease
Cytopenias from acute leukemia
Lymphocytosis in chronic lymphocytic leukemia
Hyperviscosity from polycythemia
Constitutional symptoms in lymphoma

Risk Factors

Therapy related myeloid neoplasm after chemotherapy
Inherited bone marrow failure syndromes
Older age in myelodysplastic syndromes
Exposure to ionizing radiation or benzene
Family clustering of myeloid disease

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • When new acute leukemia is diagnosed
  • When myelodysplastic syndrome is suspected
  • When chronic myeloid leukemia is diagnosed
  • When chronic lymphocytic leukemia treatment is planned
  • When relapse occurs after initial therapy

Treatment Methods

01
Bone marrow aspirate culture for karyotype
02
Fluorescence in situ hybridization probes for specific targets
03
Integration with flow cytometry and molecular testing
04
Risk classification by cytogenetic group
05
Targeted therapy guided by detected abnormalities
06
Allogeneic transplant in adverse cytogenetic disease
07
Repeat testing at remission and relapse

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.