• Test Code:
    7520
  • Department:
    Cancer FISH
  • Test Synonyms:
    Multiple Myeloma FISHPlasma CellMyeloma FISHMM FISH
  • CPT Code(s):
    88271x1088275x1088368x1 (FFPE)88369x9 (FFPE)
Background:

Multiple Myeloma (MM) belongs to a family of neoplasms involving clonal expansion of immunoglobulin secreting B-cells, often with bone marrow involvement, resulting in anemia and leukopenia.  Additionally, bone lesions are often seen.  This FISH panel is designed to detect the most common, and/or prognostically-significant abnormalities in Multiple Myeloma and related plasma cell neoplasms (Swerdlow et al. 2008).  FISH studies are useful adjuncts to complete chromosome studies, particularly when following an abnormal clone, assessing relapse and progression, or when material is inadequate for chromosomal analysis. The bone marrow samples used for testing are sorted on CD138+ using magnetic beads.  Blood samples or tissue samples are not sorted before FISH testing.

The Multiple Myeloma FISH panel includes:
1) IGH/CCND1 dual-fusion probe, to detect t(11;14).
2) TP53 locus-specific probe, to detect deletion of TP53 (17p13.1).
3) MYC break-apart probe, to detect disruptions and amplification of the MYC locus (8q24).
4) IGH break-apart probe, to detect disruptions of the IGH locus (14q32).
5) CKS1B/CDKN2C probe, to detect chromosome 1q gain and/or 1p loss.
6 and 7) D5S23, D5S721 and CEP15 probes, to detect ploidy for chromosomes 5 and 15.
8) CEP3 to detect ploidy for chromosome 3.
9) and 10) D13S319(13q14.2), RB1(13q14.2), and LAMP1(13q34) to detect deletions of chromosome 13q

Note: Reflex testing may include IGH/MYC, IGH/FGFR3, IGH/MAF, IGH/CCND3, IGH/MAFB, IGK break-apart, and/or IGL break-apart when relevant.  Additional charges apply.

Note:  Interphase FISH analysis is not intended to stand alone, but rather to provide supplemental information to routine cytogenetic studies.

Methodology:

Slides are prepared per standard protocols and 100 interphase cells are scored per probe.

Specimen Requirements:

The MM FISH Panel can be performed on the following specimen types.  After collection, keep at room temperature until shipping.  Contact Client Services at (855) 535-1522 for shipping kits and instructions.

  • Bone Marrow:  Shortly before aspiration add 0.2 cc of Sodium Heparin (1,000 units/ml) to tube of transport medium (please contact Client Services for transport medium and instructions).  Add at least 1 cc of bone marrow aspirate to the tube and suspend well.  Allow no clots to form.
  • Peripheral blood: May be used if bone marrow is inspirable and blasts (.5%) are present.  Send in Sodium Heparin tube.
  • Bone core biopsy: May also provide cells in cases where marrow is severely packed.  Send in transport medium with Sodium Heparin.
  • Lymph node or tumor: Tumor specimens of at least 0.5 cm3 (up to 3 inches in diameter) are immediately collected with sterile methods into closable containers with sterile transport medium.* Needle biopsies will be accepted, but are often difficult to grow.  Deliver the specimen in transport medium to the laboratory within a day, if possible, with decreased success rates as specimens are delayed in transit.  Protect sample from temperature extremes during shipping.

*Sterile Ringer’s solution, either lactated or non-lactated and sterile isotonic saline are alternatives, if no complete RPMI is available.  Contact the lab for more information on media requirements.

It is preferable to collect the specimen before initiation of chemotherapy in the patient.  Tumor samples should be selected from viable areas, with as little normal or necrotic material as possible. 

Fluid samples (e.g., scetic or pleural fluid) do not require culture medium for collection, but should be collected and transported aseptically. 

Unacceptable specimens are acellular, necrotic specimens, septic specimens, specimens in fixative or frozen, or specimens collected more than one week previously.

  • Formalin-fixed paraffin-embedded tumor blocks or FFPE slides:  Store at room temperature. Preferred slice thickness is 5 micrometer on positively charged slides.  Please submit 16-20 slides.  Contact Client Services for more information.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please provide detailed clinical information.

Test Performed (Days):

Mon-Sat

Turn Around Time:

5-10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.

Shipment Sensitivity Requirements:

  • Keep specimen at room temperature during transit. 
  • Do not use the cold pack provided in the KDL shipping kit. 
  • Ship the specimen overnight express, using the FedEx priority overnight label provided. 
  • The specimen must arrive at the lab no more than 24 hours after collection.

References:

  1. Swerdlow et al. (Eds.): WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. IARC: Lyon 2008
  2. Understanding the role of hyperdiploidy in myeloma prognosis: which trisomies really matter?
  3. Multiple myeloma immunoglobulin lambda translocations portend poor prognosis
  4. High-Risk Myeloma Is Demarcated By Immunoglobulin Lambda Light Chain Translocations

Additional Info: