A Plasma Cell Myeloma Case with an Abnormal Clone with a t(8;22)(q24.1;q11.2) Within the Context of a Hyperdiploid...

We report here a 74-year-old male who was seen for recurrent respiratory infections, fatigue, and weight loss in November 2016. Bone marrow biopsy showed 90% involvement by plasma cell myeloma (PCM) [90% plasma cells, 40% cellular bone marrow]. Cytogenetic analysis of the bone marrow showed a complex karyotype described as: 53,Y,add(X)(p22.1),del(1)(p13p22),+3,add(3)(p13),add(4)(p12),+6,del(6)(q13q25),t(8;22)(q24.1;q11.2),+9,+11,+15,+15,+21[7]/46,XY[13]. This particular pattern with deletion 1p, deletion 6q, and a t(8;22)(q24;q11.2) within the context of a complex karyotype is seen in PCM. Fluorescence in situ hybridization analysis on the CDC138 sample was positive for additional copies of CEP7 (centromere 7), CEP9 (centromere 9), CEP11 (centromere 11), and CEP15 (centromere 15), suggesting polysomy. FISH using the MYC Vysis break apart probe showed evidence of MYC rearrangement similar to the breakpoint site seen in Burkitt lymphoma with t(8;22)(q24;q11). FISH using the IGL break apart probe (Cytocell, Cambridge, UK) showed evidence of a 22q11.2 rearrangement. The signal pattern showed a residual green signal (BCR), a green signal on the derivative 8, and a red signal on the derivative 22, suggesting that the breakpoint at 22q11.2 in this patient was located downstream of the BCR region of the IGL gene. The variant Burkitt-type translocation, t(8;22)(q24;q11), is a very rare abnormality in PCM, and this case is one of only several reported to date. In these patients, MYC abnormalities appear late in the course of the disease and have an immature phenotype. A review of several cases in the literature suggests that this translocation leads the MYC gene under direct regulation of the enhancer of the partner gene, and in our case, the IGL or a nearby gene, thereby causing high level transcription of MYC. This abnormality is usually present within a complex karyotype and is associated with tumor progression and a poor prognosis.