Abnormal chromosomal marker (D14 q+) in a patient with alpha heavy chain disease.

Abstract

SUMMARY A patient with alpha heavy chain disease (aHCD), 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 (xHC) were found in the patient's saliva.

Immunoproliferative small intestinal disease (IPSID): a model for mature B-cell neoplasms

“…Other clonal abnormalities demonstrated in ␣HCD were a case of t(5;9) and another case of 14qϩ chromosome. 52 In a patient with leukemic manifestation of ␣HCD, peripheral blood cytogenetics demonstrated an abnormal karyotype showing multiple reciprocal translocations including t(21;22) (q22;q11), which seems to be translocating the AML1 gene to the light chain locus. 27 It is interesting also to note that the AML1 gene may be involved in some cases of multiple myeloma.…”

Alpha heavy chain disease developing in an Asian resident in the United Kingdom and responding to antibiotics

“…In southern India for example, a large number of people with a high prevalence of intestinal infection have been monitored over a long period of time for tropical sprue studies, without a single case of a-CD ever being detected (Baker and Mathan, 1971; Ross and Mathan, 1981). Further evidence of a possible genetic susceptibility is an abnormal chromosomal marker (Gafter et al, 1980) and the occurrence of a Hodgkin's lymphoma some years after successful treatment of a-CD (Monges et al, 1981).…”

“…Alpha chain disease is thought to evolve from a benign plasma cell infiltrate, the premalignant phase, through to a lymphoma by dedifferentiation of mature plasma cells to immature cells rather than formation of an additional malignant clone of cells (Gafter et al, 1980). As malignancy is difficult to diagnose in the early stages, routine laparotomy is recommended before deciding treatment (Mougenot et al, 1981).…”

Primary lymphomas of the small intestine: East‐west contrast

“…A strong association between IPSID and HLA-Aw 19, HLA-B12 1601, and HLA-A9 1611 has been reported. Chromosomal abnormalities involving chromosome 14 (D14 + q) have been described [10,62] and may present a genetic marker for the disease. The occurrence of IPSID in relatives living far apart [60], and the elevated levels of intestinal isoenzyme of alkaline phosphatase in healthy family members of some patients with IPSID tumors (631 may indicate a familial predisposition for the disease.…”