Multiple myeloma associated with amyloidosis and t(1;20)(q21;q11) translocation.

Abstract

A 59-year-old woman with nephrotic syndrome was diagnosed as having primary amyloidosis based on the detection of amyloid deposition (AL-protein) in the esophagus and kidneys. Bone marrow aspirate showed plasmocytic proliferation, leading to a diagnosis of multiple myeloma (IgG i,-type). In addition, a very rare translocation t(1; 20) (q21; qil) was seen by chromosomal analysis of both the bone marrow and peripheral blood, multiple myeloma ; amyloidosis ; chromosomal abnormality Then, an azoospermic man with t(1; 20)(q21 ; q13) was reported by Antonelli et al. in 1983. Madan andKleinhout (1987) subsequently showed that the women of a large family that suffered from first trimester abortions had t(1; 20)(p36 ; p11). Most recently, Weh et al. (1990) have reported two patients with multiple myeloma and t(1; 20)(q12.3 ; p13). We here report a woman with multiple myeloma, the nephrotic syndrome and systemic amyloidosis, who also had the chromosomal abnormalities t(1; 20) (q21; q11). CASE REPORTA 59-year-old house-wife was admitted for treatment of the nephrotic syndrome on 26 May, 1989. The hemogram was normal and the Westergren sedimentation rate was increased. Liver and kidney function was normal. Urinary protein excretion ranged between 10 and 15 g/day, with Bence-Jones protein being detected by immunoelectrophoresis. Her serum total protein level was low (4.9 g/100 ml), but there was an increase of y-globulin (16.9%). This M-protein was shown to be an IgG A-type paraprotein by immuno-electrophoresis. The serum IgG level was elevated (1,473 mg/100 ml), while both the IgA (47 mg/100 ml) and IgM (61 mg/100 ml) levels were low. Bone marrow aspiration microscopically showed the proliferation of plasmocytis (18.0%) with scattered plasmocytic packets, leading to a diagnosis of multiple myeloma. Needle biopsy of the kidney indicated amyloidosis ; with Congo Red staining AL-type amyloid deposition along the capillary walls thickened the basement membrane, resulting in the nephrotic syndrome. Chromosomal analysis by G-banding was performed after the culture of the bone marrow

Clinical Implications of Abnormalities of Chromosomes 1 and 13 in Multiple Myeloma

“…Regarding structural abnormalities, in addition to those described above, t(1;9)(p13–21;q34) [7]and t(1;20)(q21;q11) [8]have been reported. We have also detected t(1;10)(q42;q26), and t(1;19)(q11;p13.3) in our patients [9].…”