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PubMed1965

HEAVY-CHAIN DISEASE.

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Academies and Institutes↗
PubMed1998

Frequent occurrence of deletions and duplications during somatic hypermutation: implications for oncogene translocations and heavy chain disease.

Human naive and germinal center (GC) B cells were sorted by flow cytometry and rearranged VH region genes were amplified and sequenced from single cells. Whereas no deletions or insertions were found in naive B cells, approximately 4% of in-frame and >40% of out-of-frame rearrangements of GC B cells harbored deletions and/or insertions of variable length. The pattern of deletions/insertions and their restriction to mutated V genes strongly suggests that they result from somatic hypermutation. Deletions and insertions account for approximately 6% of somatic mutations introduced into rearranged VH region genes of GC B cells. These deletions/insertions seem to be the main cause for the generation of heavy chain disease proteins. Furthermore, it appears that several types of oncogene translocations (like c-myc translocations in Burkitt's lymphoma) occur as a byproduct of somatic hypermutation within the GC-and not during V(D)J recombination in the bone marrow as previously thought.

B-Lymphocytes↗
PubMed1989

Gamma heavy chain disease associated with Hodgkin's disease. Clinical, pathologic, and immunologic features of one case.

This report describes the clinical, pathologic, and immunologic features of a patient with gamma heavy chain disease (gamma-HCD) associated with Hodgkin's disease (HD). The diagnosis of gamma-HCD was established by serum electrophoresis and immunoelectrophoresis and confirmed by biochemical analysis of patient's serum showing the presence of an incomplete gamma chain, with an approximate molecular weight of 40 kilodaltons. The diagnosis of HD rested upon the presence of systemic lymphadenopathy, the typical histologic pattern and reactivity of Reed-Sternberg cells with the LeuM1-CD15 monoclonal antibody. The two diseases developed independently, in the absence of any immunosuppressive treatment. Furthermore, there was some evidence suggesting that HD tissue was not responsible for the production of the incomplete gamma chain. This and similar cases may provide a model for a better understanding of the events leading to the simultaneous outgrowth of two lymphoid neoplasias in the same patient.

Antibodies, Monoclonal↗
PubMed1980

G1 heavy chain disease: clinicopathological, ultrastructural and immunochemical study of a new case.

Clinicopathological ultrastructural, and immunohistochemical findings of a new case of IgG1 heavy chain disease are reported in detail. The abnormal protein lacks the VH and CH1 region with sequence starting at 225 residue. The main pathologic feature was plasmacytic tumor of the lymph nodes with B-cell immunoblastic sarcoma patterns. Neoplastic diffusion to other organs was also present. Plasmacytic neoplastic cells have also been found in the bone marrow. The ultrastructure of the noeplastic cells was characterized by more or less abundant plasmacytic-like endoplasmic reticulum with very frequent peculiar whorled configurations. Immunohistochemical methods revealed the abnormal protein production by neoplastic cells in different stages of differentiation. From this case and from the data of the literature it is concluded that the gamma HCD is due to a neoplastic proliferation of lymphoplasmacytic cells whereas the reticulum cells are never involved.

Aged↗
PubMed1990

A new extra sequence at the amino terminal of a mu heavy chain disease protein (DAG).

The primary structure of a human mu heavy chain (DAG) protein is described. The native protein is a circular decamer with a molecular weight (Mr) of 500 kDa, each decamer being constituted of the constant domains C mu 2, C mu 3 and C mu4 and interlinked by 15 disulfide bridges. At its NH2-terminal each monomeric chain starts with an "extra sequence". The amino acid sequence of this segment is Arg-Gln-Ser-Asp-Asp-Pro-Val-Leu-Arg-Gly-Thr-Thr-Val-Pro-Val-Thr-Glu and its reinitiation point is located at Val223 (Gal numbering), at the beginning of C mu 2. This sequence has no homology with any other protein included in the present databases.

Amino Acid Sequence↗
PubMed1976

Mu heavy-chain disease--a defect in immunoglobulin assembly. Structural studies of the kappa chain.

Mu-chain protein GLI is a pentameric molecule with an amino-terminal deletion comprising 130 residues. The half-cysteine residue (position 140) which forms the H-L disulfide bridge in normal IgM is present. Instead of being joined to the L chain, it presumably exists as an additional inter-H-H disulfide bridge. The kappa Bence Jones protein is of normal size and present in two forms: as monomers and dimers. The carboxy-terminal half-cysteine of the monomer is bound to cysteine. Possible reasons for failure of assembly between mu and L chains are briefly discussed.

Amino Acid Sequence↗
PubMed1979

[Heavy chain disease: humoral and cellular findings in six patients with mu chain disease (author's transl)].

Clinical and chemical findings in 6 patients with mu-chain disease are reported. In all of these patients a lymphoproliferative disease was observed which by its symptoms resembled CLL. This similarity was underlined by the finding of an impaired response of PBL of the patients to mitogens as PHA, PWM, and Con A. A substantial result of our studies lies in the fact that the presence of mu-chains in the serum does not correlate with a clinically defined entity. Moreover, mu-chains have been observed in a case of benign lymphadenopathy. In one case a good remission of 4 years duration could be induced by the application of cytostatic agents.

Adult↗
PubMed1979

A case of gamma 3 heavy chain disease with vacuolated plasma cells: a clinical, immunological, and ultrastructural study.

A patient with lambda Bence-Jones proteinuria, Waldenström's macroglobulinaemia, and Franklin's disease (gamma HCD), but without clinical evidence of a lymphoproliferative disorder, is presented. The serum contained two distinct immunoglobulin abnormalities: a monoclonal immunoglobulin M (IgM) of lambda type, and a protein fragment which was immunologically related to immunoglobulin G (IgG) and devoid of light chain activity. This gamma HCD protein belongs to the gamma 3 subclass with a molecular weight of approximately 60,000 daltons. The urine contained a Bence-Jones lambda protein as well as the gamma HCD fragment. The two paraproteins were probably secreted by two different malignant clones. Ultrastructural study revealed pathological vacuolated plasma cells of a sort that has hitherto been principally described in association with micron HCD. The mechanism of the intracellular storage of pathological immunoglobulins is discussed in the light of the ultrastructural study.

Aged↗
PubMed1976

A case of gamma heavy chain disease associated with autoimmune haemolytic anaemia: clinical, haematological, immunological and pathological details.

A 76-year-old Japanese man, presented with a case of gamma heavy chain disease associated with autoimmune haemolytic anaemia. The clinical course progressed rapidly, accompanied by fever, lymphadenopathy, erythematous palate and hepatosplenomegaly. As the disease progressed, haemoglobin level gradually reduced, and jaundice occurred. A complication of autoimmune haemolytic anaemia was deduced from the laboratory data obtained at this time. The patient's serum and urine contained an M-component with electrophoretic and antigenic properties resembling those of the Fc-fragment of G1 globulin. Microscopic and electron microscopic findings on the tumor cells infiltrating in lymphnodes indicated all types of transitional forms from small lymphocytes to large lymphoplasmoblastic cells.

Aged↗
PubMed1983

Gamma heavy chain disease. Ultrastructural and immunohistochemical study.

Electron microscopic and immunohistochemical studies were carried out on materials obtained from three patients of gamma heavy chain disease (gamma-HCD). Electron microscopically, proliferating cells showed various stages of maturation from immunoblast to plasma cell, and the majority of proliferating cells were proplasmacytes and plasma cells. From the intracytoplasmic immunoglobulin studies by immunoperoxidase method (PAP method) and electron microscopical enzyme-labeled antibody technique, proliferating cells, such as the immunoblast, plasmablast, proplasmacyte, and plasma cell, showed positive reaction to anti-gamma-heavy chain serum and anti-Fc fragment (IgG) serum, and also in a third case with Bence Jones protein, proliferating cells showed positive reaction to anti-kappa light chain serum. We would conclude that proliferating cells in gamma-HCD might be a single clone proliferation of B-cell synthesizing gamma-HCD protein, and the predominant proliferation cells are proplasmacytes and plasma cells situated near mature plasma cells in the B-cell line.

Aged↗
PubMed1998

[Gamma-heavy chain disease associated with MALT lymphoma of the duodenum].

We report a case of a 63-year-old woman with gamma heavy chain disease (HCD) associated with mucosa-associated lymphoid tissue (MALT) lymphoma of the duodenum. She was suffering from drug-resistant tonsillitis with high fever. Examination on admission showed leukocytopenia and thrombocytopenia. Bone marrow aspirate revealed granulocytosis and a hypocellular marrow with no increase in plasma cells or atypical lymphocytes. Serum electrophoresis disclosed, in addition to hypogamma-globulinemia, an abnormal band due to the presence of gamma HCD protein. This abnormal protein was a molecular weight of approximately 40 kd as determined by Western blots technique, and belonged to the IgG1 subclass as determined by ELISA with monoclonal antibodies against IgG. An endoscopic examination of the patient's duodenum found a small tumorous lesion, which was confirmed pathologically to be MALT lymphoma. HCD is known to be associated with lymphoproliferative diseases. In this case, gamma HCD had developed as a secondary complication of MALT lymphoma. gamma HCD associated with MALT lymphoma of the duodenum is rare in the literature.

Biomarkers↗
PubMed1975

Abdominal lymphoma with alpha-heavy chain disease.

Clinical, immunochemical and pathological studies were performed in a 27-year-old male who presented with abdominal pain, the malabsorption syndrome, and marked weight loss. Immunoelectrophoretic studies revealed alpha-heavy chains in the patient's serum, urine and intestinal juice. Treatment with cyclophosphamide and corticosteroids produced an improvement in the patient's condition and he survived for 18 months after the onset of symptoms. Autopsy revealed a malignant lymphoma of mixed histiocytic-lymphocytic type involving mainly the mesenteric lymph nodes, but also affecting the jejunal mucosa, liver, spleen and extraabdominal lymph nodes. This is the first case of abdominal lymphoma with alpha-heavy chain disease to be reported from Yugoslavia.

Abdominal Neoplasms↗