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HelpTest ID: NGHIS MayoComplete Histiocytic Neoplasms, Next-Generation Sequencing, Varies
Shipping Instructions
Whole blood, bone marrow aspirate, and body fluid specimens must arrive within 14 days of collection.
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Bone marrow aspirate
Container/Tube:
Preferred: Lavender or pink top (EDTA) or yellow top (ACD)
Acceptable: Green top (sodium heparin)
Specimen Volume: 2 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 (preferred) 14 days/Refrigerate 14 days
Additional Information: To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender or pink top (EDTA) or yellow top (ACD)
Acceptable: Green top (sodium heparin)
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 (preferred) 14 days/Refrigerate 14 days
Additional Information: To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Paraffin-embedded tissue
Container/Tube: Paraffin block
Collection Instructions:
1. If available, send 1 representative hematoxylin and eosin-stained slide.
2. Minimum amount of tumor nuclei is 20%.
3. Required amount of tissue area is at least 25 mm(2).
4. Tissue should be fixed in 10% neutral-buffered formalin. Other fixatives are not acceptable.
5. Decalcified specimens (eg, bone marrow core biopsies) are not acceptable.
Specimen Stability Information: Ambient
Additional Information: If the quality of the biopsy specimen is poor or the target tumor cell population is below 20%, testing should not be ordered. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Tissue slide
Slides: 10 unstained slides
Container/Tube: Transport in plastic slide holders.
Collection Instructions:
1. Send 10 unstained, nonbaked slides with 5-micron thick sections of tissue.
2. If available, also send 1 representative hematoxylin and eosin-stained slide.
2. Minimum amount of tumor nuclei is 20%.
3. Required amount of tissue area is at least 25mm(2).
4. Tissue should be fixed in 10% neutral-buffered formalin. Other fixatives are not acceptable.
5. Decalcified specimens (eg, bone marrow core biopsies) are not acceptable.
Specimen Stability Information: Ambient
Additional Information: Testing may be canceled if resultant extracted DNA does not meet concentration requirements.
Specimen Type: Frozen tissue
Container/Tube: Plastic container
Specimen Volume: 100 mg
Collection Instructions: Freeze tissue within 1 hour of collection
Specimen Stability Information: Frozen
Additional Information: Testing may be canceled if resultant extracted DNA does not meet concentration requirements.
Specimen Type: Body fluid
Container/Tube: Sterile container
Specimen Volume: 5 mL
Collection Instructions: Specify the type of fluid being submitted.
Specimen Stability Information: Refrigerated 14 days/Frozen 14 days
Additional Information: Testing may be canceled if resultant extracted DNA does not meet concentration requirements.
Specimen Type: Extracted DNA
Container/Tube: 1.5- to 2-mL tube
Specimen Volume: Entire specimen
Collection Instructions:
1. Label specimen as extracted DNA and source of specimen
2. Indicate volume and concentration of DNA on label
Specimen Stability Information: Frozen (preferred)/Refrigerated/Ambient
Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). We cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied.
Forms
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Useful For
Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with histiocytic neoplasms
Special Instructions
Method Name
Next-Generation Sequencing (NGS)
Reporting Name
Histiocytic Neoplasms, NGS, VSpecimen Type
VariesSpecimen Minimum Volume
Whole blood, bone marrow aspirate, body fluid: 1 mL; Frozen tissue: 50 mg; Extracted DNA: 100 microliters (mcL) at 20 ng/mcL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | 14 days |
Clinical Information
Histiocytic neoplasms are a diverse group of disorders characterized by the infiltration of neoplastic histiocytes within various tissues. Traditionally classification has been based on histopathology and limited immunohistochemical markers, as well as specific clinical presentations. Distinction between entities can be diagnostically difficult. Recently, genomic profiling by next-generation sequencing has revealed recurrent mutations in several genes that can be used to better subclassify entities in this challenging group of neoplasms. Furthermore, mutations involving the mitogen-activated protein kinase (MAPK) pathway (eg, BRAF, MAP2K1) have potential therapeutic implications for the use of targeted BRAF and MEK inhibitors.
Reference Values
An interpretive report will be provided.
Interpretation
Genomic variants detected by this test will be documented in a detailed laboratory-issued report. This report will contain information regarding the detected alterations and their associations with prognosis or possible therapeutic implications in histiocytic neoplasms. The information in the clinical report may be used by the patient's healthcare professional to help guide decisions concerning management. Final interpretation of next-generation sequencing results requires correlation with all relevant clinical, pathologic, and laboratory findings and is the responsibility of the managing healthcare professional.
Clinical Reference
1. Swerdlow S, Campo E, Harris NL, et al, eds. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017. WHO Classification of Tumours, Vol 2
2. Badalian-Very G, Vergilio JA, Degar BA, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116(11):1919-1923. doi:10.1182/blood-2010-04-279083
3. Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120(13):2700-2703. doi:10.1182/blood-2012-05-430140
4. Diamond EL, Durham BH, Haroche J, et al. Diverse and targetable kinase alterations drive histiocytic neoplasms. Cancer Discov. 2016;6(2):154-165. doi:10.1158/2159-8290.CD-15-0913
5. Durham BH, Lopez Rodrigo E, Picarsic J, et al. Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms. Nat Med. 2019;25(12):1839-1842. doi:10.1038/s41591-019-0653-6
Day(s) Performed
Monday through Friday
Report Available
16 to 21 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
81450
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| NGHIS | Histiocytic Neoplasms, NGS, V | 104240-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| MP077 | Specimen Type | 31208-2 |
| MP078 | Indication for Test | 42349-1 |
| 618525 | NGHIS Result | No LOINC Needed |
| 618526 | Pathogenic Mutations Detected | 82939-0 |
| 618527 | Interpretation | 69047-9 |
| 618529 | Variants of Unknown Significance | 93367-1 |
| 618530 | Additional Information | 48767-8 |
| 618528 | Clinical Trials | 82786-5 |
| 618531 | Method Summary | 85069-3 |
| 618532 | Disclaimer | 62364-5 |
| 618533 | Panel Gene List | 36908-2 |
| 618534 | Reviewed By | 18771-6 |