Abnormal chromosomal marker (D14 q+) in a patient with alpha heavy chain disease.
A patient with alpha heavy chain disease (alphaHCD), who showed an abnormal chromosomal marker (D14 q+) in 10% of the bone marrow cells, is described. The mesenteric lymph nodes, which showed reactive hyperplasia in the first biopsy, transformed later to a malignant lymphoma and finally to a plasma cell tumour. The small intestine revealed villous atrophy, diminished crypts, and intact surface epithelium. The ultrastructure of the goblet and epithelial cells appeared to be normal, and the microvilli were preserved except for circumscribed areas of destruction. The lamina propria was heavily infiltrated with mononuclear cells, mainly mature plasma cells. Alpha heavy chains (alphaHC) were found in the patient's saliva.
D000293:Adolescent; D001853:Bone Marrow / Q000648:ultrastructure; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D005819:Genetic Markers; D006362:Heavy Chain Disease / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007122:Immunoelectrophoresis; D007143:Immunoglobulin Heavy Chains; D007137:Immunoglobulin alpha-Chains; D007583:Jejunum / Q000648:ultrastructure; D008198:Lymph Nodes / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D010950:Plasma Cells / Q000648:ultrastructure
D005819:Genetic Markers; D007143:Immunoglobulin Heavy Chains; D007137:Immunoglobulin alpha-Chains