There is increasing evidence that neoplastic plasma cells express various haemopoietic and non-haemopoietic antigens. Since this issue could raise problems in diagnostic histopathology, we have investigated 51 cases of multiple myeloma (plasmacytoma) systematically with a broad panel of antibodies applicable on paraffin-embedded and mildly decalcified tissue. In approximately 90% of the cases the neoplastic plasma cells reacted with at least one antibody detecting haemopoietic antigens: MB2 (75%), DF-T1/CD 43 (59%), UCHL1/CD 45RO (47%), Ki-B3 (41%), anti-LCA/CD 45 (40%), L26/CD 20 (26%), 4KB5/CD 45RA (18%), Ber H2/CD 30 (10%), anti-neutrophil elastase (4%), anti-Leu-7/CD 57 (8%), Dako-M1/CD 15 (2%), KP1/CD 68 (2%) and anti-glycoprotein IIIa (2%). In approximately 70% of the cases the cells reacted with antibodies against non-haemopoietic antigens: anti-epithelial membrane antigen (65%), BMA120 (53%), anti-vimentin (44%), anti-pan-cytokeratin/KL1 (8%), anti-carcino-embryonic antigen (6%) and HMB45 (6%). Lack of awareness of the frequent expression of both haemopoietic and non-haemopoietic antigens by neoplastic plasma cells could lead to mis-diagnosis of plasmacytomas as malignant lymphomas or even as carcinomas or sarcomas.

At the age of 3 weeks, a girl presenting with acute dehydration was admitted to our hospital. Clinical and laboratory findings revealed malformations of the genitourinary tract, an acute urinary infection and electrolyte disturbances (severe hyponatremia at 115 mmol/l and mild hyperkalemia at 5.6 mmol/l). According to anamnestic data, the child was born to healthy, nonconsanguineous parents. Vaccum extraction was done in the 38th gestational week due to pathological cardiotocography (CTG) findings. Auxological parameters were within the normal range for gestational age. Normal values for 17-OH progesterone and ACTH ruled out congenital adrenal hyperplasia (CAH). Pathologically high aldosterone and plasma renin activity (PRA) confirmed the diagnosis of pseudohypoaldosteronism with salt-wasting crisis which proved to be transient.

We present a family with a Robertsonian translocation (RT) 15;21 and an inv(21)(q21.1q22.1) which was ascertained after the birth of a child with Down syndrome. Karyotyping revealed a translocation trisomy 21 in the patient. The mother was a carrier of a paternally inherited RT 15;21. Additionally, she and her mother showed a rare paracentric inversion of chromosome 21 which could not be observed in the Down syndrome patient. Thus, we concluded that the two free chromosomes 21 in the patient were of paternal origin. Remarkably, short tandem repeat (STR) typing revealed that the proband showed one paternal allele but two maternal alleles, indicating a maternal origin of the supernumerary chromosome 21. Due to the fact that chromosome analysis showed structurally normal chromosomes 21, a re-inversion of the free maternally inherited chromosome 21 must have occurred. Re-inversion and meiotic segregation error may have been co-incidental but unrelated events. Alternatively, the inversion or RT could have predisposed to maternal non-disjunction.