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HelpTest ID: P53CA Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies
Useful For
Evaluating chronic lymphocytic leukemia patients at diagnosis or during disease course for the presence of TP53 gene variants indicating high risk of disease progression and adverse outcomes
This test is not intended for the evaluation of patients suspected of having an inherited or germline TP53 cancer syndrome (eg, Li Fraumeni syndrome)
Testing Algorithm
Flow cytometry will be performed on peripheral blood samples to verify diagnosis of chronic lymphocytic leukemia (CLL) and to selectively enrich for B cells in samples with a clonal population.
For more information see TP53 Sequencing Testing Algorithm.
Reporting Name
TP53 gene somatic mutation analysisSpecimen Type
VariesOrdering Guidance
For the evaluation of patients suspected of having an inherited or germline TP53 cancer syndrome (eg, Li Fraumeni syndrome), order one of the following tests containing TP53:
-XCP/ Hereditary Expanded Cancer Panel, Varies
-COMCP / Hereditary Common Cancer Panel, Varies
-BRGYP / Hereditary Breast/Gynecologic Cancer Panel, Varies
-CRCGP / Hereditary Gastrointestinal Cancer Panel, Varies
-PANCP / Hereditary Pancreatic Cancer Panel, Varies
-ENDCP / Hereditary Endocrine Cancer Panel, Varies
-THYRP / Hereditary Thyroid Cancer Panel, Varies
-WILMP / Hereditary Wilms Tumor Panel, Varies
-RENCP / Hereditary Renal Cancer Panel, Varies
-PRS8P / Hereditary Prostate Cancer Panel, Varies
Shipping Instructions
Blood and bone marrow specimens must arrive within 10 days of collection.
Necessary Information
The following information is required:
1. Pertinent clinical history
2. Clinical or morphologic suspicion
3. Date of collection
4. Specimen source
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Blood (preferred)
Container/Tube: Lavender top (EDTA) or yellow top (ACD solution B)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Label specimen as blood.
Specimen Stability Information: Ambient/Refrigerate <10 days
Specimen Type: Bone marrow
Container/Tube: Lavender top (EDTA), yellow top (ACD solution B), or green top (heparin)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send bone marrow specimen in original tube. Do not aliquot.
3. Label specimen as bone marrow.
Specimen Stability Information: Ambient/Refrigerate <10 days
Specimen Type: Tissue
Container/Tube: Plastic container
Specimen Volume: 100 mg
Collection Instructions: Stabilize fresh tissue in tissue culture medium or freeze immediately after collection.
Specimen Stability Information: Refrigerate 24 hours/ Frozen
Specimen Minimum Volume
Blood, bone marrow: 1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | 10 days |
Clinical Information
Patients with chronic lymphocytic leukemia (CLL) have variable disease course influenced by a series of tumor biologic factors. The presence of chromosomal 17p- or a TP53 gene variant confers a very poor prognosis to a subset of CLL patients, both at time of initial diagnosis, as well as at disease progression, or in the setting of therapeutic resistance. TP53 gene variant status in CLL has emerged as the single most predictive tumor genetic abnormality associated with adverse outcome and poor response to standard immunochemotherapy; however, patients can be managed with alternative therapeutic options.
Although the prognostic relevance of an acquired TP53 gene variant is best studied for CLL, similar findings are also reported for other hematologic malignancies including low-grade B-cell lymphoma, diffuse large B-cell lymphoma, and some types of myelodysplastic syndromes and acute myeloid leukemia. Therefore, while this test has been developed to be primarily focused on high-risk CLL patients, TP53 gene sequencing analysis can also be performed in additional neoplasms, as clinically indicated.
Reference Values
Genetic variants present or absent as compared to a reference sequence of the normal TP53 gene
Interpretation
Results are reported in standard nomenclature according to the most recent Human Genome Variation Society recommendations and an interpretive comment regarding the nature of the sequence variant (eg, known deleterious, suspected deleterious, synonymous change) will be included to complete the clinical report.
Clinical Reference
1. Zenz T, Krober A, Scherer K, et al: Monoallelic TP53 inactivation is associated with poor prognosis in chronic lymphocytic leukemia: results from a detailed genetic characterization with long-term follow-up. Blood. 2008;112:3322-3329
2. Lehmann S, Oqawa S, Raynaud SD, et al: Molecular allelokaryotyping of early-stage, untreated chronic lymphocytic leukemia. Cancer. 2008;112:1296-1305
3. Rossi D, Cerri M, Deambrogi C, et al: The prognostic value of TP53 mutations in chronic lymphocytic leukemia is independent of Del17p13: implications for overall survival and chemorefractoriness. Clin Cancer Res. 2009;15(3):995-1004
4. Zent CS, Call TG, Hogan WJ, et al: Update on risk-stratified management for chronic lymphocytic leukemia. Leuk Lymphoma. 2006;47(9):1738-1746
5. Trbusek M, Smardova J, Malcikova J, et al: Missense mutations located in structural p53 DNA-binding motifs are associated with extremely poor survival in chronic lymphocytic leukemia. J Clin Oncol. 2011;29:2703-2708
6. Halldorsdottir AM, Lundin A, Murray F, et al: Impact of TP53 mutation and 17p deletion in mantle cell lymphoma. Leukemia. 2011;25:1904-1908
7. Young KH, Leroy K, Moller MB, et al: Structural profiles of TP53 gene mutations predict clinical outcome in diffuse large B-cell lymphoma: an international collaborative study. Blood. 2008;112:3088-3098
8. Malcikova J, Tausch E, Rossi D, et al: ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia - update on methodological approaches and results interpretation. Leukemia. 2018;32:1070-1080
Day(s) Performed
Monday through Friday
Report Available
8 to 14 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81352-TP53 (tumor protein 53) (eg, tumor samples), full gene sequence or targeted sequence analysis of >5 exons
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| P53CA | TP53 gene somatic mutation analysis | 21739-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| MP018 | Specimen Type: | 31208-2 |
| 607075 | Signing Pathologist | 19139-5 |
| 35759 | Final Diagnosis: | 34574-4 |
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CSP53 | TP53 Pre-Analysis Cell Sorting, V | No | No |
Special Instructions
Method Name
Polymerase Chain Reaction (PCR) and Sanger Sequencing
Forms
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
mml-lymphoid-disorders, mml-lymphoma