Abstract
Multiple myeloma (MM) is a relatively rare haematological malignancy seen in older persons. It has an unknown aetiology and usually occurs incidentally within a family. However, several families have been reported with multiple cases of MM, so that the existence of hereditary MM has been postulated although no causative germline mutations have been detected so far. First-degree relatives of MM patients have been reported to have a relative risk between two and four times higher than normal of developing MM and we presume the risks are higher for relatives in the case of familial MM. Here we report on two families with MM who requested presymptomatic screening of healthy relatives. Although risk estimates for asymptomatic relatives in these types of families are not available, a clinically significant risk of developing MM cannot be excluded. We suggest that, in a research setting, screening for MM could be offered to individuals with more than one first-degree affected relative, or to those with one first-degree and at least one second-degree relative with MM. We propose a screening programme of annual protein electrophoresis of blood and urine, starting at age 40 (or earlier if a family member presented with MM at a younger age).
Highlights
Multiple myeloma (MM) is a haematological malignancy characterised by a malignant proliferation of monoclonal plasma cells in the bone marrow producing monoclonal immunoglobulins and by the formation of focal osteolytic lesions in the skeleton
The disorder might evolve from a common pre-malignant condition called monoclonal gammopathy of undetermined significance (MGUS)
We report on two families with familial clustering of MM, we review the literature on familial MM, and we discuss the options for screening healthy relatives for MM in these familial cases
Summary
Multiple myeloma (MM) is a haematological malignancy characterised by a malignant proliferation of monoclonal plasma cells in the bone marrow producing monoclonal immunoglobulins and by the formation of focal osteolytic lesions in the skeleton. The disorder might evolve from a common pre-malignant condition called monoclonal gammopathy of undetermined significance (MGUS). The disorder is not curable in most cases, the overall survival varies depending on the age of onset and other prognostic features. Several families have been described with multiple cases of MM, suggesting there may be a genetic predisposition [5,6,7,8,9,10,11]. Since no causative germline gene mutations have been identified, diagnostic DNA testing of families with an inherited type of MM and presymptomatic genetic screening for unaffected relatives are unavailable. We report on two families with familial clustering of MM, we review the literature on familial MM, and we discuss the options for screening healthy relatives for MM in these familial cases
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