Elsevier Pathology

Clinical Pathology: Genetic Testing

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1011) A peripheral blood sample from a 72-year-old female patient with lymphocytosis was submitted for cytogenetics work-up for a suspected lymphoma. G-banding karyotype analysis was performed (see figure), which showed a balanced translocation between chromosomes 11q13 and 14q32, an isochromosome of the long arm of chromosome 17, and loss of chromosome 21. The presence of t(11;14) is a characteristic feature of which one of the following types of lymphoma?

• Mantle cell lymphoma consists of monomorphic small to medium-sized lymphoid cells resembling centrocytes.

• Mantle cell lymphoma has a strong male predominance and is considered to be a low-grade B-cell non-Hodgkin lymphoma (HL) with a progressive clinical course.

• The t(11;14)(q13;q32) translocation is the cytogenetic hallmark of mantle cell lymphoma and is considered as a primary genetic event in its genesis. At the molecular level, this translocation juxtaposes the cyclin D1 gene at 11q23 next to the IHC locus at 14q32, resulting in overexpression of the cyclin D1 gene.

• Other secondary chromosome abnormalities, such as monosomy 13/deletion 13q, trisomy 12, gain of chromosome 3q, and deletion of 9q can often be seen in the blastoid form of mantle cell lymphoma.

• Secondary chromosome abnormalities are associated with a poor prognosis in mantle cell lymphoma.

Swerdlow SH, Harris NL, Jaffe ES, et al: WHO Classification of Tumours of Haematopo ietic and Lymphoid Tissues. 4th ed. Chap. 6., Chap. 10. Lyon, France: International Agency for Research on Cancer, 2008.

Siebert R: Mature B- and T-cell neoplasms and Hodgkin lymphoma.In: Heim S, Mitelman F, eds. Cancer Cytogenetics. 3rd ed.). Chap. 10. Hoboken, NJ: John Wiley & Sons, 297–374, 2009.

Atlas of Genetics and Cytogenetics in Oncology and Hematology. URL: http://AtlasGeneticsOncology.org

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