Publications by authors named "Fumiaki Matsumura"
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease caused by germline folliculin (FLCN) mutations and it is characterized by skin folliculomas, pulmonary cysts, and renal cell carcinomas (RCC). We herein report the first case of a female patient with BHDS who was diagnosed with multiple myeloma. Daratumumab-based treatment was effective, and the patient remained responsive for over three years.
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- Triple-negative essential thrombocythemia (ET) is characterized by the absence of mutations in key genes (JAK2, CALR, and MPL) and can transform into acute myeloid leukemia, with cases of B-acute lymphoblastic leukemia (B-ALL) being rare.
- A case study revealed a patient diagnosed with B-ALL while already dealing with triple-negative ET, indicating a possible link between the two conditions.
- Whole exome sequencing showed 17 mutations, with 9 shared by both ET and B-ALL samples, and 8 unique to B-ALL, suggesting these 8 specific mutations may have contributed to the transformation from ET to B-ALL.
Article Synopsis
- Angioimmunoblastic T-cell lymphoma (AITL) is a challenging type of T-cell lymphoma characterized by the specific p.Gly17Val RHOA mutation.
- A patient experienced worsening health due to cardiac issues after receiving autologous transplantation for AITL, leading to a diagnosis of cardiac tamponade related to AITL recurrence.
- The case highlights the potential for precision medicine, suggesting that monitoring the p.Gly17Val RHOA mutation can improve AITL management.