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PubMed1981

Two alpha heavy chain disease proteins with different genomic deletions demonstrate that nonexpressed alpha heavy chain genes contain methylated bases.

Two independently arising alpha heavy chain mutants have been found to synthesize heavy chains with CH1 deletions of approximately equal extent. Both were isolated from heavy chain-producing variants of the mouse myeloma W3129 and demonstrate that it is possible to arrive at the heavy chain disease phenotype by the pathway H + L leads to H leads to delta H. Analysis of genomic DNA by digestion with restriction endonucleases followed by molecular hybridization showed that one mutant (delta 37) had a deletion of approximately 0.2 kilobase and the second mutant (delta 15) had a deletion of approximately 0.5 kilobase. Mouse myeloma cells contain several alpha chain alleles but only one is expressed; the presence of the deletion in delta 37 and delta 15 made it possible to identify the restriction fragments from the expressed allele. Analysis of the fragments produced after cleavage with an isoschizomeric pair of restriction enzymes, Msp I and Hpa II, indicated that, in the W3129 cell line and its variants, the unexpressed alpha alleles contain methylated bases. The influence of methylation on gene expression remains to be elucidated.

Alleles↗
PubMed1976

The evolution of alpha heavy chain disease.

Two patients with alpha heavy chain disease are described. In the first patient, treatment with cyclophosphamide, prednisone and doxycycline was associated with a 28 month-long remission and the disappearance of the paraprotein and lymphoplasmocytic infiltration of the intestine. Shortly afterwards, a retroperitoneal immunoblastic lymphoma was found associated with an immunoglobulin G-kappa-paraproteinemia, and gamma heavy and kappa-light chains in the urine; the intestinal biopsy specimen was normal. In the other patient, the alpha chain only appeared two years after the malabsorption syndrome. The fact that in the first, apparently cured patient, a tumor of different anatomic site and secretory capacity appeared, suggests the existence of a B-cell neoplasia of different clone from that which gave rise tothe original disease. In the second patient, it is probable that only the increase in the mass of neoplastic cells led to the detection of the protein abnormality, or alternatively the antigenic-oncogenic stimulus led to the abnormal secretion only after two years.

Adult↗
PubMed1980

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.

Adolescent↗
PubMed1994

Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease.

With currently used microconcentrators, high-resolution electrophoresis, and immunofixation electrophoresis, relatively homogeneous free fragments of gamma chain (FFGC) unaccompanied by light chains, which cannot be found in the serum, may be discovered in the alpha-2 region during routine examination of the urine. The urinary alpha-migrating FFGC is of no apparent clinical significance and should not be confused with the antigenically related FFGCs of gamma heavy-chain disease. In gamma heavy-chain disease, the FFGCs are often demonstrable in the urine, but are always present in the serum and migrate in the beta-gamma region.

Diagnosis, Differential↗
PubMed1978

An unusual case of a plasma cell neoplasm with an IgG3lambda myeloma and a gamma3 heavy chain disease protein.

A unique case of gamma3 heavy chain disease with two related serum proteins is reported. One molecule appears to be an IgG3lambda myeloma protein. The second molecule is a dimer of a shortened gamma3 heavy chain that has an unblocked amino terminus and lacks the VH and CH1 domains. Its probable origin as a synthetic product is discussed. The clinical and pathologic features of this patient resemble those of other patients with gamma heavy chain disease more than those of patients with multiple myeloma. It seems likely that the heavy chain disease protein is the result of a mutational event in the malignant clone originally producing the myeloma protein.

Centrifugation, Density Gradient↗
PubMed1985

Gamma heavy-chain disease involving upper airway.

Gamma heavy-chain disease is a rare disorder. It is a plasma cell dyscrasia, with the patient's age at onset being 9 to 87 years. Identification of IgG heavy chains in the serum and urine is diagnostic. Histopathologic features are nonspecific. Although the clinical presentation is diverse, many signs and symptoms lead to early otorhinolaryngologic consultation. For this reason gamma-heavy-chain disease should be considered in the differential diagnosis of inflammatory lesions of the upper aerodigestive tract.

Heavy Chain Disease↗
PubMed1978

A new case of gamma-heavy chain disease.

The first case of gamma-heavy chain disease described in Spain is here reported. The patient, a 36-year-old woman, presented fever, enlarged regional lymph nodes, and hepatosplenomegaly, without bone marrow abnormalities but with lymphopenia. Serum electrophoresis did not disclose any M-component. The abnormal gamma-chain protein had a alpha2-globulin mobility and was immunochemically related to the Fc fragment. It belonged to the IgG 4 subclass, its molecular weight was about 60,000. Proteinuria was minimal but the electrophoresis of concentrated urine showed a homogeneous peak of alpha2-globulin mobility constituted by the gamma-chain fragment. Biopsy of an axillary lymph node disclosed features of immunoblastic sarcoma. The course was malignant, resulting in death in 8 months.

Adult↗
PubMed1998

Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link?

In 1991, gamma heavy chain disease was diagnosed in a 43-year-old female, who 3 years earlier had contracted an erosive seronegative chronic arthropathy. Her gamma heavy chain disease had a benign course, requiring no specific therapy for 5 years. In 1996, however, her lymphoproliferative disorder underwent a more malignant course, with renal and cardiac failure and increasing articular problems, requiring treatment with melphalan and prednisolone, following the protocol for myelomatosis. Laboratory studies revealed a monoclonal component in serum and urine. consistent with dimers of gamma-chains of the gamma3 subclass, but with a smaller molecular mass than normal gamma3-chains, suggesting molecular aberrations as consistently observed in this disorder. Massive localization of plasma cells and blasts with cytoplasmic or cell membrane staining for gamma3-chains, but no staining for kappa or lambda light chains, was observed by immunohistochemical studies of tissue specimens from bone marrow as well as affected synovial tissue. Large amounts of extracellular gamma3-chains were deposited in the synovial membrane. In addition, marked inflammatory changes with synovial cell hyperplasia were seen. Whether the present case represents primarily a gamma heavy chain deposition disease with reactive inflammatory changes in the joints, or another example of gamma heavy chain disease preceded by seronegative rheumatoid arthritis, remains elusive. Regardless, a possible pathogenic link between the two disease processes is an intriguing possibility.

Adult↗
PubMed2000

Is there a pathogenic link between gamma heavy chain disease and chronic arthritis?

In 1991, gamma heavy chain disease was diagnosed in a 43-year-old female, who 3 years earlier had contracted an erosive seronegative chronic arthropathy. In 1996, her lymphoproliferative disorder required treatment with melphalan and prednisolone. Laboratory studies revealed a gamma3 heavy chain monoclonal component in serum and urine. Massive localization of plasma cells and blasts with cytoplasmic or cell membrane staining for gamma3 chains, but no staining for light chains, was observed by immunohistochemical studies of bone marrow as well as affected synovial tissue. Large amounts of extracellular gamma3-chains were also deposited in the synovial membrane. This is the first documentation of gamma heavy chain deposition disease directly affecting articular structures. Whether it represents the primary pathogenic event followed by reactive inflammatory changes in the joints, or another example of gamma heavy chain disease preceded by chronic arthritis, remains elusive. Regardless, several common cellular and molecular mechanisms discussed here suggest a pathogenic link between the two disease processes.

Adult↗
PubMed1990

Immunoproliferative small intestinal disease: a study of 13 cases with alpha heavy-chain disease.

The pathology of 13 cases of immunoproliferative small intestinal disease (IPSID) associated with alpha-heavy-chain disease--one an apparent non-secretor and another with localized infiltration--is described. Four cases exhibited immunohistological light-chain monotypia. In one of these, evolution of a light-chain negative cell population was observed over a 7-year period. In the intestine, centrocyte-like cells produced lympho-epithelial lesions in 11 cases and enlarged lymphoid follicles in three. In lymph nodes, perifollicular infiltration was observed in 11 cases and abnormal follicles in six. Of three patients with high-grade lymphoma at presentation, one died untreated at 2 months, and two are alive at 34 and 91 months. Of 10 patients with low-grade disease at presentation, two died--one at 76 months, the other after transforming to high-grade lymphoma at 73 months. Eight patients with low-grade disease are alive, an average of 67 months after presentation. Four of five conservatively treated low-grade cases (including three in remission) showed evidence of monoclonality at presentation (light-chain monotypia in two and gene rearrangement in two), while two of the five exhibited DNA aneuploidy. It is concluded that IPSID with alpha-heavy-chain disease is neoplastic in all its stages and is a variant of mucosa-associated lymphoma. The role of centrocyte-like cells and the response to conservative therapy are discussed.

Adolescent↗
PubMed1977

The mutual clonal origin of the lymphoplasmocytic and lymphoma cell in alpha-heavy chain disease.

Biosynthetic studies in alpha-heavy chain disease were performed on the gut tumour which was composed mainly of lymphoplasmocytic cells and on the mesenteric lymph node tumour composed mainly of immunoblasts. The gut tumour cells synthesised alpha-heavy chains and secreted them during 2-5 hr culture, whereas the lymph node tumour cells synthesized alpha-heavy chains which were shed into the culture medium only after 20 hr. These chains were shown to be present on the surface of the immunoblastic tumour cells by enzymatic radioiodination. Both the surface and the secreted alpha-heavy chain of the lymph node and gut tumour were found to be smaller than the alpha-heavy chain of myeloma proteins. These results suggest that the lymphoblasmocytic and the immunoblastic tumour cells originate from the same defective clone.

Adult↗
PubMed1986

Alpha-heavy chain disease.

A review of alpha-heavy chain disease (AHCD) emphasizing its histopathology and associated lesions is presented. Unusual clinicopathologic presentations and modern concepts regarding histogenesis of AHCD in the light of recent immunohistochemical findings are discussed. Increasingly reported cases of Burkitt's (or Burkitt-type) lymphoma involving distal small intestine or the ileocecal region in children are noted.

Heavy Chain Disease↗
PubMed1977

Gamma heavy chain disease: clinical aspects and characterization of a deleted, noncovalently linked gamma1 heavy chain dimer (BAZ).

This report describes the clinical and immunoglobulin features of a patient with gamma heavy chain disease (HCD), who presented with a clinical picture suggestive of an underlying malignancy rather than the usual picture of lymphoma or granulomatous disease. A unique clinical feature was the nearly total replacement of the submaxillary glands by plasma cells. The patient's serum and urine contained a paraprotein, gammaHCD protein BAZ, which belongs to the gamma1 subclass and forms noncovalently linked dimers with a molecular weight of approximately 60,000 daltons. This mutant protein exhibited a deletion which encompassed most of the variable (V) region, the first constant domain (CH 1), and the hinge region. In addition, preliminary structural analyses demonstrated the replacement of alanine by glycine in position 431 of the carboxyterminal octadecapeptide. This substitution may possibly represent another allotypic marker on IgG1 proteins.

Aged↗
PubMed1994

Immunoproliferative small intestinal disease: Mediterranean lymphoma and alpha heavy chain disease.

Gastrointestinal lymphoma, uncommon in the West, is far more prevalent in developing countries where it falls into two groups: 'Western'-type lymphomas, similar to those seen in developed countries, and the so-called Mediterranean-type lymphoma. It is now accepted that Mediterranean lymphoma represents, in the majority if not in all cases, the late stage of alpha heavy chain disease (alpha-HCD). This disease is characterized by abnormal secretion of an immunoglobulin fragment; alpha-HCD and Mediterranean lymphoma constitute two ends of a spectrum of pathology now classified as immunoproliferative small intestinal disease (IPSID). IPSID is associated predominantly with poor socioeconomic conditions; patients present with progressive malabsorption in the second and third decades of life. Diagnosis is established by small bowel biopsy, with or without high serum levels of the alpha heavy chain protein. Treatment consists of an initial staging laparotomy, with debulking of lymphomatous deposits if appropriate, followed by chemotherapy or radiotherapy. Overall prognosis is poor but the recent use of doxorubicin-based chemotherapy offers some hope for the future.

Diagnosis, Differential↗
PubMed1980

Gamma heavy chain disease with an unusually benign course.

Gamma heavy chain disease (gamma HCD) has been found in approximately 60 patients (Franklin 1978) since its discovery in 1964 (Franklin et al. 1964). Clinical features include fever and local or generalized lymphadenopathy which may wax and wane. Patients suffer from an undue susceptibility to infection. Hepatosplenomegaly is common. Blood smears often reveal lymphocytosis with atypical lymphocytes and eosinophilia. The pathological diagnosis is lymphoma or reactive hyperplasia. The disease is often rapidly progressive and fatal. In some patients it runs a more prolonged course. The case we present is remarkable in that the patient has now been in remission for 24 months.

Female↗
PubMed1978

New presentation of alpha heavy chain disease: North American polypoid gastrointestinal lymphoma. Clinical and cellular studies.

Alpha Heavy Chain Disease has generally been described in the Mediterranean area in young people with a diffuse gastrointestinal lymphoma and malabsorption. We describe a patient from the United States with polypoid lymphoma of the gastrointestinal tract and a prolonged clinical course, who had the characteristic alpha heavy chain disease protein. He did not have malabsorption, and the gastrointestinal tract, though containing multiple discrete lymphomatous polyps had little plasmacytic reaction. Lymphosarcoma cell leukemia developed late in the course and the malignant cells had the characteristics of B lymphocytes but did not contain alpha heavy chains. The data support the contention that the lymphoma in this form of alpha heavy chain disease may involve B lymphocytes but that the abnormal protein may be produced by other cells. Polypoid varieties of gastrointestinal lymphoma in North America must now be considered part of the spectrum of alpha heavy chain disease and the diagnostic protein searched for diligently.

Adult↗