Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Multiple Myeloma (Plasmacytoma, Kahler's disease) [C90.00]

OMIM number: 254500

Dipl.-Ing. (FH) Tanja Hinrichsen

Scientific Background

The multiple myeloma (MM) – a bone marrow neoplasm – belongs to the group of low grade malignant non-Hodgkin lymphomas and has been associated with the detection of paraproteins in the serum and/or in the urine. Approximately 10-15% of all hematologic neoplasms are MMs. Due to the low mitotic index, detection of cytogenetic aberrations with the classic chromosome analysis is possible only to a limited extent (in approx. 30% of all cases). FISH analysis on enriched CD138+ cell nuclei can detect chromosomal abnormalities in approx. 90% of all cases. Rearrangements in the band 14q32, the location of the immunoglobulin heavy chain gene, are the most frequently occurring abnormalities. For the majority of the aberrations in this area the clinical significance is yet unclear; however, the translocations t(4;14)(p16.3;q32) and t(14;16)(q32;q23) as well as the deletion 17p13 are associated with an unfavorable prognosis. As a single aberration, the deletion 13q14 is no longer considered to be associated with an unfavorable prognosis. T(4;11)(p16;q32), however, is characterized by a favorable prognosis. Gains of chromosomes, especially of chromosomes 3, 5, 7, 9, 11, 15, 19 and 21 are associated with a hyperdiploid subgroup and a favorable course.