Ann Lab Med.  2012 Jan;32(1):95-98. 10.3343/alm.2012.32.1.95.

CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/IGH and MYC Aberrations

Affiliations
  • 1Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea. kal1119@hanmail.net
  • 2Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.

Abstract

The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis. In this study, a patient with blastoid variant (MCL) is reported. The disease was clinically aggressive and refractory to chemotherapy, and the patient only survived for 1 month following diagnosis. Conventional cytogenetic study, FISH, and multicolor FISH (mFISH) demonstrated the involvement of the BCL1/CCND1 locus in a complex translocation, t(3;11)(q25;p15)t(11;14)(q13;q32). In addition, subclonal abnormalities in the 8q24 region, manifested as a t(8;14)(q24;q32)/MYC rearrangement, were identified. To the best of our knowledge, this is the first MCL case in Korea bearing these complex genomic aberrations.

Keyword

Mantle cell lymphoma; CCND1; MYC

MeSH Terms

Aged, 80 and over
Antigens, CD5/*metabolism
Bone Marrow/immunology/metabolism
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 3
Gene Rearrangement
Humans
Immunophenotyping
In Situ Hybridization, Fluorescence
Lymphoma, Mantle-Cell/*diagnosis/genetics/immunology
Male
Oncogene Proteins, Fusion/*genetics
Proto-Oncogene Proteins c-myc/*genetics
Translocation, Genetic

Figure

  • Fig. 1 The peripheral blood smear shows an increased number of medium- to large-sized blastoid cells with polymorphous nuclei and basophilic cytoplasm (Wright-Giemsa stain, ×1,000).

  • Fig. 2 (A) Giemsa-banding karyogram of bone marrow cells: 45-47,XY,-9,-11,der(14)t(11;14)(q13;q32),-22,+2~3mar. M1 and M2 indicate marker chromosome 1 and 2, respectively. (B) Single color galleries of mFISH analysis showing der(14)t(11;14)(q13;q32), der(11) t(3;11)(q25;p15)t(11;14)(q13;q32), der(14)t(8;14)(q24.1;q32), and der(17)t(8;17)(q?;q?) respectively. (C) Diagrammatic representation of der(11)t(3;11)(q25;p15)t(11;14)(q13;q32). The arrows indicate breakpoints in chromosomes 3, 11, and 14. (D) FISH analysis using a dual-color dual-fusion BCL1(green)/IGH(orange) probe, a subclone harboring 2 fusion (F), 1 BCL1(G) and 2 IGH (R) signals. The corresponding chromosomes are marked as F, G, and R on the karyogram (A).


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