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Comparison of Diagnostic Yield Among M-FISH, FISH Probe Panel and Conventional Cytogenetic Analysis in AML

NCT03719183 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 120

Last updated 2022-03-09

No results posted yet for this study

Summary

Conventional cytogenetic studies have been the gold standard for more than five decades for detecting genetic alterations that are greater than 10 Mb (mega base pairs) in size. Conventional cytogenetic studies have paved the way in identifying specific chromosomal aberrations associated with clinically and morphologically definitive subsets of hematological neoplasms.

Fluorescence in situ hybridization (FISH) has become a reliable and rapid complementary test in targeting critical genetic events associated with diagnostics and prognosis in hematological neoplasms.

In the current health care environment, which increasingly focuses on value and efficiency, it is critical for pathologists and clinicians to effectively navigate this environment and judiciously incorporate these high-complexity and expensive techniques into routine patient care. While conventional karyotyping provides a comprehensive view of the genome, FISH can detect cryptic or submicroscopic genetic abnormalities and identify recurrent genetic abnormalities in nondividing cells. As a consequence, it is commonly extrapolated that FISH will improve the sensitivity of detecting all genetic abnormalities compared with conventional karyotyping analysis. This assumption has then been translated in clinical practice to having clinicians and pathologists routinely ordering both conventional karyotyping and FISH studies in patients with hematological neoplasms. Depending on how comprehensive the FISH panel is, the cost for this testing may be quite expensive, and its additive value remains questionable.

It is common practice for laboratories to use FISH panels in conjunction with karyotyping both in diagnostic specimens and during follow-up to monitor response to therapy.

Multiplex FISH (M-FISH) represents one of the most significant developments in molecular cytogenetics of the past decade. In tumor and leukemia cytogenetics, two groups have been targeted by M-FISH to identify cryptic chromosome rearrangements not detectable by conventional cytogenetic studies: those with an apparently normal karyotype (suspected of harboring small rearrangements not detectable by conventional cytogenetics) and those with a complex aberrant karyotype (which are difficult to karyotype accurately due to the sheer number of aberrations).

Conditions

Interventions

DIAGNOSTIC_TEST

Conventional Cytogenetics Studies

Metaphase cytogenetic studies will be performed in all cases according to standard methods. Chromosome preparations will be G-banded using trypsin and Giemsa, and karyotypes will be described according to the International System for Human Cytogenetic Nomenclature (ISCN) 2016.

DIAGNOSTIC_TEST

Fluorescent in Situ Hybridization (FISH) Panels

AML Panel includes: * t(8;21) (RUNX1-RUNX1T1). * inv(16), t(16;16) (CBFB-MYH11). * t(9;22) (BCR-ABL). * 11q23 KMT2A rearrangements. * inv(3) MECOM rearrangements. * DEK-NUP214 rearrangements. * Del(5q) Deletion * Del(7q) Deletion Acute Promyelocytic Leukemia panel includes: * t(15;17) (PML-RARA). * 17q RARA rearrangements

DIAGNOSTIC_TEST

Multiplex FISH (M-FISH)

24-color karyotyping

Sponsors & Collaborators

  • South Egypt Cancer Institute

    collaborator OTHER

  • Assiut University

    lead OTHER

Principal Investigators

  • Eman Mosaad, MD · South Egypt Cancer Institute

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-01-01
Primary Completion
2021-12-31
Completion
2021-12-31

Countries

  • Egypt

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03719183 on ClinicalTrials.gov