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FISH, Alveolar Rhabdomyosarcoma (ARMS), FKHR, 13q14 Rearrangement
Test Code19772
CPT Codes
88275, 88271 (x2)
Includes
Note: If results are not possible, the test order may be canceled and replaced with a Cytogenetics Communication.
Preferred Specimen
3 mL bone marrow submitted in a sterile container with culture medium and antibiotics or
Formalin-fixed, paraffin-embedded tissue or
5x5 mm tissue in a sterile leak-proof container with culture medium and antibiotics
Formalin-fixed, paraffin-embedded tissue or
5x5 mm tissue in a sterile leak-proof container with culture medium and antibiotics
Minimum Volume
1 mL bone marrow
Other Acceptable Specimens
Bone marrow collected in: sodium heparin (green-top), or sodium heparin, lead-free (tan-top), or sodium heparin (royal blue-top) tube • 5x5mm lymph node/tumor collected in a sterile container in Hanks' Ringer's solution or culture medium with antibiotics
Instructions
Clinical history and reason for referral are required with test order. Prior therapy and transplant history should be provided with test order.
Specimen viability decreases during transit. Send specimen to testing laboratory for viability determination. Do not freeze. Do not reject.
Specimen viability decreases during transit. Send specimen to testing laboratory for viability determination. Do not freeze. Do not reject.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: See instructions
Refrigerated: See instructions
Frozen: See instructions
Refrigerated: See instructions
Frozen: See instructions
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 the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Sun-Fri; Report available: 5 days
Reference Range
Interpretive Report
Clinical Significance
This fluorescence in situ hybridization (FISH) assay detects chromosome rearrangements of the FOXO1 (FKHR) gene located on chromosome 13q14.11. The results of this test may aid in the diagnosis and prognostic assessment of alveolar rhabdomyosarcoma (ARMS).
ARMS accounts for 25% of rhabdomyosarcoma and commonly occurs between 10 to 25 years of age [1]. The majority of the patients with ARMS have FOXO1 rearrangements that result in the PAX3/FOXO1 (70%-90%) or PAX7/FOXO1 (10%-30%) fusion genes [1]. These characteristic fusion genes help distinguish ARMS from poorly differentiated embryonal rhabdomyosarcoma (ERMS), which is the most common type of rhabdomyosarcoma in children [1]. Further testing may be needed to identify each specific gene fusion. Patients with FOXO1 rearrangement gerenally have inferior prognosis than those without; patients with the PAX3/FOXO1 fusion gene have a worse prognosis than patients with the PAX7/FOXO1 fusion gene [1].
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. Fletcher CDM, et al. Soft tissue tumours. In: WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours. 5th ed. IARC Press; 2020:chap 2. Accessed July 18, 2023. https://tumourclassification.iarc.who.int
2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Soft tissue sarcoma. Version 2.2023. Updated April 25, 2023. https://www.nccn.org
ARMS accounts for 25% of rhabdomyosarcoma and commonly occurs between 10 to 25 years of age [1]. The majority of the patients with ARMS have FOXO1 rearrangements that result in the PAX3/FOXO1 (70%-90%) or PAX7/FOXO1 (10%-30%) fusion genes [1]. These characteristic fusion genes help distinguish ARMS from poorly differentiated embryonal rhabdomyosarcoma (ERMS), which is the most common type of rhabdomyosarcoma in children [1]. Further testing may be needed to identify each specific gene fusion. Patients with FOXO1 rearrangement gerenally have inferior prognosis than those without; patients with the PAX3/FOXO1 fusion gene have a worse prognosis than patients with the PAX7/FOXO1 fusion gene [1].
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. Fletcher CDM, et al. Soft tissue tumours. In: WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours. 5th ed. IARC Press; 2020:chap 2. Accessed July 18, 2023. https://tumourclassification.iarc.who.int
2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Soft tissue sarcoma. Version 2.2023. Updated April 25, 2023. https://www.nccn.org
