Test Directory

• IGH, 14q32.3
• CCND1 (BCL1), 11q13.3

This translocation has earlier been thought to be the hallmark of the mantle cell lymphoma. Actually, the frequency of t(11;14) is 50-70% in mantle cell lymphoma, 10-20% in B-prolymphocytic leukemia, plasma cell leukemia, and splenic lymphoma with villous lymphocytes, and in 2%-5% in chronic lymphocytic leukemia and multiple myeloma. This translocation juxtaposes cell-cycle regulator cyclin D1 (CCND1) to immunoglobulin heavy chain (IGH) on chromosome 14q32. Occasionally, immunoglobulin kappa locus (IGK) or immunoglobulin lambda locus (IGL) serve as the CCND1 translocation partner. Secondary genomic alterations are present in >90% of cases and play important roles in pathogenesis. These secondary copy-number changes include gains or amplifications of 3q, 7p, 8q (MYC), 15q, 18q (BCL2), and losses of 1p, 2q, 6q, 8p, 9p (CDKN2A or CDKB2B, in 10–36% of cases), 9q, 10p, 11q (ATM, in 11–57%), 13q (RB1, 25–55%), 17p (TP53, in 21–45%), and 19p. FISH for abnormalities of chromosome 11;14 can be performed on interphase or metaphase cells.

Specimen Types: Leukemic Blood or Bone Marrow

Preferred Collection Container: Green Top (Sodium Heparin)

Alternate Collection Container: Lavendar Top (EDTA)

Desired Specimen Volume: 3 - 5 mL

Minimum Acceptable Volume: 1 mL

• Lithium heparin is not acceptable.
• Specimens must be collected in a sterile collection container.

Each specimen must be accompanied by a requisition form, script, electronic order or physician note. Each order must indicate the reason for testing (diagnosis).

• Transport to the laboratory at room temperature.
• Store specimen as whole blood, in original tube, at room temperature and deliver to lab within 24 hours.
• If specimen cannot be delivered within 24 hours, store in refrigerator. Do not freeze specimen.
• Specimens collected on the weekends must be refrigerated upon arrival at HNL Lab Medicine.

• Specimen frozen
• Specimen arriving without any form of patient identification (unlabeled)
• Specimen with attached needles
• Specimen arriving with broken or leaking collection tube
• Unfixed specimen treated with fixative

In a normal cell, the expected signal pattern is two red signals and two green signals. In an abnormal cell containing a typical translocation, the expected signal pattern is one red signal, one green signal, and two fused signals.

• FISH Translocation IGH/CCND1
• t(11;14)
• IGH/BCL1
• IGH::CCND1
• IGH::BCL1