Pleural fluid MYD88 L265P mutation supporting diagnosis and decision to treat extramedullary Waldenstrom’s macroglobulinemia: a case report
| Autor: | Pritha Sharma, William LiPera, Alan Kaell, Vikas Kumar, Martin Barnes |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
Allele-specific polymerase chain reaction (AS-PCR) medicine.medical_specialty Pleural effusion Thoracentesis medicine.medical_treatment Population lcsh:Medicine Case Report 030204 cardiovascular system & hematology Lymphoplasmacytic Lymphoma 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Piperidines hemic and lymphatic diseases Pleural fluid medicine Humans Malignant pleural effusion Extramedullary education Aged education.field_of_study Dose-Response Relationship Drug business.industry Adenine Ibrutinib Remission Induction lcsh:R Macroglobulinemia Pulmonary General Medicine Lymphoplasmacytic medicine.disease Pleural Effusion Malignant Lymphoma Waldenstrom’s macroglobulinemia chemistry 030220 oncology & carcinogenesis Mutation Myeloid Differentiation Factor 88 MYD88 L265P Mutation Radiology Waldenstrom Macroglobulinemia Tomography X-Ray Computed business |
| Zdroj: | Journal of Medical Case Reports, Vol 14, Iss 1, Pp 1-6 (2020) Journal of Medical Case Reports |
| ISSN: | 1752-1947 |
| DOI: | 10.1186/s13256-020-02404-x |
| Popis: | Background Our case of a patient with untreated lymphoplasmacytic lymphoma/Waldenstrom’s macroglobulinemia with extramedullary pleural effusion is the first documented case of pleural fluid MYD88 L265P mutation status in a community hospital setting. Our patient was intolerant to 420 mg ibrutinib, but still achieved a lasting complete remission, as defined by National Comprehensive Cancer Network guidelines, with a dose reduction to 240 mg of ibrutinib. Case presentation A 72-year-old Caucasian (white) man diagnosed with monoclonal immunoglobin M kappa lymphoplasmacytic lymphoma/Waldenstrom’s macroglobulinemia monitored without treatment for 2 years, presented with dyspnea and a left pleural effusion. At presentation, computed tomography scans of his chest, abdomen, and pelvis showed layering left pleural effusion and para-aortic lymphadenopathy. Pleural fluid cytology demonstrated B-cell lymphoma of the lymphoplasmacytic subtype, with monoclonal kappa B-cell population on flow and a positive MYD88 L265P mutation. The pleural effusion recurred post-thoracentesis and he achieved a lasting complete remission as defined by National Comprehensive Cancer Network guideline with 240 mg ibrutinib. Conclusions Our discussion details a comprehensive literature review of extramedullary pulmonary involvement in Waldenstrom’s macroglobulinemia. Establishing a malignant etiology for pleural effusion in Waldenstrom’s macroglobulinemia can be challenging, as standard techniques may be insensitive. Allele-specific polymerase chain reaction for detecting MYD88 L265P mutations is more sensitive for confirming lymphoplasmacytic lymphoma/Waldenstrom’s macroglobulinemia in pleural fluid. Extramedullary pulmonary involvement usually presents post-diagnosis of Waldenstrom’s macroglobulinemia and responds well to Waldenstrom’s macroglobulinemia-directed treatment regimens. Allele-specific polymerase chain reaction is a sensitive assay for detecting MYD88 L265P mutations in pleural fluid to support the diagnosis of malignant pleural effusion in the setting of Waldenstrom’s macroglobulinemia and helps guide the treatment decision to use ibrutinib. Although intolerant of ibrutinib 420 mg, our patient achieved complete and sustained remission of pleural effusion with a dose of 240 mg with progression free survival of over 30 months. |
| Databáze: | OpenAIRE |
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