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| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
FISH, p53, Deletion 17p13.1
Message| Interfaced |
Test Code
FISH, p53 Deletion
Quest Code
17874
Preferred Specimen
3 mL bone marrow or 5 mL whole blood collected in a sodium heparin (green-top) tube
Minimum Volume
1 mL bone marrow • 3 mL whole blood
Other Acceptable Specimens
Bone marrow or whole blood collected in: Sodium heparin (royal blue-top) tube or sodium heparin lead-free (tan-top) tube • 5x5 fresh lymph node or fresh biopsy in sterile container with Hanks' or Ringer's solution (refrigerated - cold packs)
Instructions
Clincial history and reason for referral are required with test order. Prior therapy and transplant history should be provided with test order.
Please specify if this test is run for plasma cell neoplasms.
Please specify if this test is run for plasma cell neoplasms.
Transport Container
Sodium heparin (green-top) tube
Transport Temperature
Room temperature
Specimen Stability
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Methodology
Fluorescence in situ Hybridization (FISH)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Mon-Thurs
Reference Range
See Laboratory Report
Clinical Significance
This fluorescence in situ hybridization (FISH) assay detects deletion of the TP53 gene region in chromosome 17p13.1. The results of this test may aid in the prognostic assessment and treatment selection for chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).
The most common genetic abnormalities of CLL/SLL are del(13q), del(11q), trisomy 12, and del (17p). At least one of these 4 genetic abnormalities can be detected with FISH in >80% of patients with CLL/SLL [1]. Evaluation of these frequent genetic abnormalities is recommended for the investigation of prognosis [2] and may inform treatment decisions [3].
Del(17p) can be detected with FISH in 7% of patients with CLL/SLL and confers unfavorable prognosis [1]. Del(17p) results in the loss of the TP53 gene and can occur concurrently with mutations in the remaining TP53 allele. The abnormalities of the TP53 gene are the strongest genetic predictor of prognosis and treatment outcome and may be present before therapy or emerge after therapy [1,2]. Therefore, testing for both the deletion and mutation of the TP53 gene is recommended before initiation of the therapy to inform therapy selection and at progression in patients without previously identified TP53 abnormalities [1,2].
A combination of genetic techniques is often involved in identifying genetic abnormalities. FISH testing is complementary to conventional cytogenetic analysis (karyotyping) and can be used to detect common cytogenetic abnormalities. However, because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. Dohner H, et al. N Engl J Med. 2000;343(26):1910-1916.
2. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 16, 2023. https://tumourclassification.iarc.who.int
3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Chronic lymphocytic leukemia/small lymphocytic lymphoma. Version 3.2023. Updated June 12, 2023. https://www.nccn.org
The most common genetic abnormalities of CLL/SLL are del(13q), del(11q), trisomy 12, and del (17p). At least one of these 4 genetic abnormalities can be detected with FISH in >80% of patients with CLL/SLL [1]. Evaluation of these frequent genetic abnormalities is recommended for the investigation of prognosis [2] and may inform treatment decisions [3].
Del(17p) can be detected with FISH in 7% of patients with CLL/SLL and confers unfavorable prognosis [1]. Del(17p) results in the loss of the TP53 gene and can occur concurrently with mutations in the remaining TP53 allele. The abnormalities of the TP53 gene are the strongest genetic predictor of prognosis and treatment outcome and may be present before therapy or emerge after therapy [1,2]. Therefore, testing for both the deletion and mutation of the TP53 gene is recommended before initiation of the therapy to inform therapy selection and at progression in patients without previously identified TP53 abnormalities [1,2].
A combination of genetic techniques is often involved in identifying genetic abnormalities. FISH testing is complementary to conventional cytogenetic analysis (karyotyping) and can be used to detect common cytogenetic abnormalities. However, because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. Dohner H, et al. N Engl J Med. 2000;343(26):1910-1916.
2. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 16, 2023. https://tumourclassification.iarc.who.int
3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Chronic lymphocytic leukemia/small lymphocytic lymphoma. Version 3.2023. Updated June 12, 2023. https://www.nccn.org
Performing Laboratory
| Quest Diagnostics Nichols Institute-Chantilly VA |
| 14225 Newbrook Drive |
| Chantilly, VA 20151-2228 |
