Abstract
BackgroundMultiple Myeloma is a cancer of plasma cells associated with significantly reduced survival. Long term survivorship from myeloma is very rare and despite advances in its treatment the disease is generally considered incurable. We report a patient diagnosed with myeloma carrying a germline mutation of a tumour suppressor gene who has effectively been cured.Case presentationA 36-year-old woman was diagnosed with IgG lambda myeloma in 1985. She was treated with melphalan chemotherapy followed by high-dose melphalan and autologous stem cell rescue and since remained in complete remission despite not having received any additional therapy. After eliciting a prior history of multiple primary melanomas and breast cancer, she was tested for and shown to be a carrier for a germline mutation in CDKN2A.ConclusionsThis is the second case report of germline mutation of CDKN2A being associated with myeloma. CDKN2A is a stabiliser of p53. Long term survivorship after high dose DNA damaging chemotherapy with melphalan in this patient is compatible with an increased chemo-sensitivity due to impairment of the DNA repair pathway.
Highlights
Multiple Myeloma is a cancer of plasma cells associated with significantly reduced survival
While there was at that juncture no family history of melanomas or early onset pancreatic cancer, a diagnosis of hereditary melanoma syndrome which can be caused by germline mutations in the cyclin-dependent kinase Inhibitor 2A (CDKN2A) gene was considered in view of the history of multiple melanomas
The pathogenic nature of the specific c.213C > A mutation in CDKN2A noted in this patient is suggested by the fact that it has been described previously in several hereditary melanoma families [8,9,10] as well as a supraglottic squamous cell carcinoma [11]
Summary
Multiple Myeloma is a cancer of plasma cells associated with significantly reduced survival. We report on an MM patient who has been in complete remission for over 30 years after only receiving first-line standard of care possibly being a consequence of having hereditary Melanoma Syndrome. While there was at that juncture no family history of melanomas or early onset pancreatic cancer, a diagnosis of hereditary melanoma syndrome which can be caused by germline mutations in the cyclin-dependent kinase Inhibitor 2A (CDKN2A) gene was considered in view of the history of multiple melanomas.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
