| Title: | Aggressive variant of splenic marginal zone lymphoma characterized using a cancer panel test and treated with rituximab-containing chemotherapy A case report |
| Authors: | Ishiguro, Kazuya Browse this author |
| Sasaki, Yasushi Browse this author |
| Takagi, Yoshitake Browse this author |
| Niinuma, Takeshi Browse this author |
| Suzuki, Hiromu Browse this author |
| Tokino, Takashi Browse this author |
| Hayashi, Toshiaki Browse this author |
| Takahashi, Tohru Browse this author |
| Igarashi, Tetsuyuki Browse this author |
| Matsuno, Yoshihiro Browse this author →KAKEN DB |
| Keywords: | aggressive variant of splenic marginal zone lymphoma |
| cancer panel test |
| next generation sequencing |
| rituximab |
| Issue Date: | 28-Aug-2020 |
| Publisher: | Lippincott Williams & Wilkins (LWW) |
| Journal Title: | Medicine |
| Volume: | 99 |
| Issue: | 35 |
| Start Page: | e21938 |
| Publisher DOI: | 10.1097/MD.0000000000021938 |
| Abstract: | Rationale: Aggressive variant of splenic marginal zone lymphoma (AV-SMZL) is a very rare disease that is often associated withTP53mutations and has a poor prognosis. On the other hand, recent advances in genome sequencing techniques enable us to understand the molecular characteristics of rare cancers such as AV-SMZL. Here we present a case of AV-SMZL analyzed using a genetic test. Patient Concerns: A 66-year-old woman was admitted with splenomegaly and lymphocytosis. Computed tomography revealed marked splenomegaly without lymphadenopathy in any other areas. The serum soluble interleukin-2 receptor (sIL-2R) level was significantly elevated. Peripheral and bone marrow blood tests showed an increase in abnormal lymphocytes. Diagnosis: A splenectomy revealed an SMZL pattern with increased numbers of large cells and mitotic cells and a high Ki-67 positivity rate, which led to a diagnosis of AV-SMZL. AlthoughTP53mutation was not detected, mutations inNOTCH2,NCOA4,PTEN,EPHA3,andKMT2Dwere identified. Among these, the mutations inNCOA4,PTEN,andEPHA3were novel pathogenic mutations in SMZL, which suggests they may be related to the aggressiveness and persistence of the disease. Interventions: The patient was administered a rituximab-containing regimen and rituximab-maintenance therapy. Outcomes: The patient continues to exhibit a complete response. Lessons: This is a case of AV-SMZL in which a cancer panel test successfully detected genetic alterations that are potentially associated with its pathogenesis. These findings suggest that genetic analysis is useful for making diagnoses as well as for determining treatment strategies in AV-SMZL. |
| Rights: | https://creativecommons.org/licenses/by/4.0/ |
| Type: | article |
| URI: | http://hdl.handle.net/2115/79760 |
| Appears in Collections: | 北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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