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(a) Serum protein electrophoresis showing monoclonal spike in the beta-fraction (arrow). (b) Serum immunofixation showing presence of alpha paraprotein (arrow), without corresponding kappa or lambda light chains.
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Heavy chain diseases are rare variants of B-cell lymphomas that produce one of three classes of immunoglobulin heavy chains, without corresponding light chains. We describe two patients with asymptomatic heavy chain monoclonal gammopathy. The first patient is a 51-year-old woman with alpha paraprotein on serum immunofixation. The second case is a 4...
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The heavy chain diseases (HCDs) are rare B-cell malignancies characterized by the production of a monoclonal immunoglobulin heavy chain without an associated light chain. There are three types of HCD, defined by the class of immunoglobulin heavy chain produced: IgA (α-HCD), IgG (γ-HCD), and IgM (μ-HCD). Alpha-HCD is the most common and usually occu...
Citations
... 6 Of these forms, rare clinical courses of γ-HCD, exhibiting monoclonal gammopathy of undetermined significance (MGUS), have been observed in 4 patients. 6,[9][10][11] Regarding μ-heavy chain disease, a patient presenting the clinical features of benign monoclonal gammopathy, which is, in general, the same as MGUS, was previously reported. 12 Here, we report a case of γ-heavy chain MGUS. ...
... 6,13 Among the exceptional features of restricted and indolent γ-HCD, 3,6 a rare form of γ-HCD MGUS has been described in 4 patients. 6,[9][10][11] In these patients, a small number of tumor cells were restricted in the bone marrow with an indolent clinical course. They did not have autoimmune disease. ...
Gamma-heavy chain disease (γ-HCD) is a rare B-cell tumor producing truncated IgG lacking the light chain. The clinical features of γ-HCD are heterogeneous, similar to lymphoplasmacytic lymphoma, and most patients have generalized and progressive disease. In some γ-HCD patients, autoimmune diseases are associated. Thus, γ-HCD as a restricted or indolent disease is exceptional. A 66-year-old male was referred to our hospital because of subungual hemorrhage at the bilateral halluces. Physical and laboratory examination results were nonspecific, and the hemorrhage was revealed to be traumatic. However, serum electrophoresis demonstrated a small M-peak, which was monoclonal IgG-Fc without the corresponding light chain on immunofixation and immunoelectrophoresis. Bone marrow aspirate demonstrated a small number of lymphoplasmacytic cells that were positive for CD19, CD38, CD138, and cyIgG, but negative for cyκ- and -λ light chains on flow cytometry. A diagnosis of γ-HCD was made. Chest and abdominal CT demonstrated neither hepatosplenomegaly, lymphadenopathy, nor bone lytic lesions. The serum concentrations of IgG and M-peak configuration have remained relatively unchanged for nearly 3 years. Therefore, this γ-HCD may correspond to a rare form of monoclonal gammopathy with undetermined significance.
... Iijima et al. [9] report a case c-HCD and T-cell large granular lymphocytic leukemia. c-HCD can exist in the absence of clinical symptoms similar to other forms of monoclonal gammopathy of undefined significance (MGUS) [10]. ...
Gamma heavy chain disease (c-HCD) is a rare lymphoproliferative disorder characterised by the production of a truncated immunoglobulin heavy chain. Fewer than 200 cases have been reported in the literature. In some cases, c-HCD occurs with other lymphoid neoplasms. is study reports clinical, biochemical, haematological, and histological findings in two cases of c-HCD. We describe newer biochemical diagnostic tools (HevyLite measurement, capillary electrophoresis, and immunotyping) that can aid in the characterisation of c-HCD. e first case is an 88-year-old woman with c-HCD. e second case is an 81-year-old woman who developed c-HCD during treatment for Waldenstrom's macroglobulinemia. In the second patient, histopathology identified a separate clone responsible for the secretion of the gamma heavy chain. Studies on the clonal evolution of the disease may provide insight into therapeutic implications and the genomic complexity of the disease.
... Gamma-HCD (γ-HCD), also known as Franklin's disease, was reported for the first time in 1964. Since then, approximately 130 cases have been de-scribed in the literature (4). Although γ-HCD has been reported to occur equally in men and women, a slight predominance in women has recently been noted (5). ...
... Classic presentation of g-HCD includes generalized lymphadenopathies and splenomegaly also shown by our patient by CT, but not at physical examination (2). One of the most distinctive symptoms is palatal oedema resulting from enlargement of nodes in Waldeyer's ring (4,5). Our patient did not present this symptom. ...
Heavy chain diseases (HCD) are B-cell lymphoprolipherative disorders characterized by the production of monoclonal heavy chains without associated light chains. Some cases of gamma-HCD (γ-HCD) are concurrent with other lymphoid neoplasm. The monoclonal component is not always detectable by serum electrophoresis, and often an immunofixation procedure is necessary to detect this component. Prognosis is variable, and no established guidelines for follow-up are available. We describe a case of a challenging diagnosis of γ-HCD due to the absence of clinical signs frequently reported in the disease (anaemia and palatal oedema among others). Haematological malignancy was the first suspicion but bone marrow examination was negative. In addition, the presence of an autoimmune bicytopenia and a Klinefelter syndrome complicated the clinical context of the patient. A thoracoabdominal computed tomography reported many small adenopathies whose pathological and immunohystochemical study revealed a follicular lymphoma. Shortly after, serum inmunofixation secondary to an abnormal electrophoretic pattern revealed a gamma paraprotein without light chains. Eventually, γ-HCD in association with follicular lymphoma was the final diagnosis. This is the first case reporting this association.
Introduction . Heavy-chain diseases (HCDs) are rare B-cell lymphoproliferative diseases that do not have a classical clinical picture. A characteristic feature of this disease is the secretion of fragmented heavy chains of various immunoglobulin isotypes. Currently, there are four known variants of this disease: μ, γ, α, and δ.
Aim . To describe the clinical observation of μ-HCD, hidden under the mask of systemic amyloidosis, and the associated diffi culties of primary diagnosis.
Main Findings . A rare clinical case of μ-HCD in combination with systemic amyloidosis (light chain amyloidosis-AL), transthyretin amyloidosis (transthyretin amyloidosis-ATTR), and non-amyloid deposits in a 64-year-old patient is presented. The severity of the condition was due to the clinical picture of chronic heart failure, polyneuropathy. Upon examination, Waldenstrom’s macroglobulinemia was diagnosed while a diagnosis of amyloidosis was not established. Immuno-chemotherapy was performed under the RB program (rituximab and bendamustine). The effect of the therapy was minimal and short-term. The patient’s condition progressively worsened, and the patient died due to acute cardiovascular failure. The main diagnosis was revised in favor of μ-HCD. The autopsy revealed widespread amyloid and non-amyloid lesions of organs and tissues.
Conflict of interest: the authors declare no conflict of interest
Financial disclosure: the study had no sponsorship
