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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
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 peripheral blood.
Specimen Stability Information: Ambient (preferred) 14 days/Refrigerate
Specimen Type: Paraffin-embedded tissue
Container/Tube: Paraffin block
Collection Instructions:
1. Send 1 representative slide stained with hematoxylin and eosin.
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
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 and 1 representative slide stained with hematoxylin and eosin.
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
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
Specimen Type: Body fluid
Container/Tube: Sterile container
Specimen Volume: 5 mL
Specimen Stability Information: Refrigerated 14 days/Frozen
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
Forms
Useful For
Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with histiocytic neoplasms
Genetics Test Information
This test includes next-generation sequencing to evaluate the following 8 genes and select intronic regions: ARAF, BRAF, CSF1R, KRAS, MAP2K1, NRAS, PIK3CA, and PTEN. For a list of genes and exons targeted by this test, see Targeted Genes Interrogated by MayoComplete Histiocytic Neoplasms Next-Generation Sequencing.
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 | Special Container |
|---|---|---|---|
| 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 clinician 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 clinician.
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 |