Case report: A rare case of coexisting Waldenstrom Macroglobulinemia and B-cell acute lymphoblastic leukemia with KMT2D and MECOM mutations
BackgroundWaldenstrom Macroglobulinemia (WM) is a rare and indolent lymphoma of B-cell origin characterized by elevated monoclonal IgM, with MYD88L265P mutation and CXCR4 mutation as common molecular alterations. B-cell Acute Lymphoblastic Leukemia (B-ALL) is clinically heterogeneous, characterized...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-10-01
|
| Series: | Frontiers in Immunology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2022.1001482/full |
| _version_ | 1798031242964238336 |
|---|---|
| author | Lingling Wang Jiao Tang Jun Feng Yongfen Huang Yuexin Cheng Hao Xu Yuqing Miao |
| author_facet | Lingling Wang Jiao Tang Jun Feng Yongfen Huang Yuexin Cheng Hao Xu Yuqing Miao |
| author_sort | Lingling Wang |
| collection | DOAJ |
| description | BackgroundWaldenstrom Macroglobulinemia (WM) is a rare and indolent lymphoma of B-cell origin characterized by elevated monoclonal IgM, with MYD88L265P mutation and CXCR4 mutation as common molecular alterations. B-cell Acute Lymphoblastic Leukemia (B-ALL) is clinically heterogeneous, characterized by abnormal proliferation and aggregation of immature lymphocytes in the bone marrow and lymphoid tissue. WM and ALL are hematologic malignancies of B-cell origin with completely different clinical manifestations and biological features. KMT2D and MECOM mutations are very rare in ALL and usually indicate poor disease prognosis. The coexistence of WM and ALL with KMT2D and MECOM mutations have not been reported.Case presentationA 74-year-old female patient was diagnosed with WM in July 2018 and received four cycles of chemotherapy of bortezomib and dexamethasone. In November 2018, she received immunomodulator thalidomide as maintenance therapy. In November 2020, Bruton’s Tyrosine Kinase inhibitors (BTKi) has been introduced into the Chinese market and she took zanubrutinib orally at a dose of 80 mg per day. The disease remained in remission. In December 2021, she presented with multiple enlarged lymph nodes throughout the body. Bone marrow and next-generation sequencing (NGS) suggested the coexistence of WM and B-ALL with KMT2D and MECOM mutations. The patient was treated with zanubrutinib in combination with vincristine and dexamethasone, after which she developed severe myelosuppression and septicemia. The patient finally got remission. Due to the patient’s age and poor status, she refused intravenous chemotherapy and is currently treated with zanubrutinib.ConclusionsThe coexistence of WM and B-ALL is very rare and has not been reported. The presence of both KMT2D and MECOM mutations predicts a poor prognosis and the possibility of insensitivity to conventional treatment options. BTKi achieves its anti-tumor effects by inhibiting BTK activation and blocking a series of malignant transformations in B-cell tumors. In addition, it also acts on T-cell immunity and tumor microenvironment. Combination therapy based on BTKi may improve the prognosis of this patient. |
| first_indexed | 2024-04-11T19:53:11Z |
| format | Article |
| id | doaj.art-fb1fb7f5c6304783b8162f82a6627bba |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-04-11T19:53:11Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-fb1fb7f5c6304783b8162f82a6627bba2022-12-22T04:06:14ZengFrontiers Media S.A.Frontiers in Immunology1664-32242022-10-011310.3389/fimmu.2022.10014821001482Case report: A rare case of coexisting Waldenstrom Macroglobulinemia and B-cell acute lymphoblastic leukemia with KMT2D and MECOM mutationsLingling Wang0Jiao Tang1Jun Feng2Yongfen Huang3Yuexin Cheng4Hao Xu5Yuqing Miao6Department of Hematology, The First People’s Hospital of Yancheng, The Yancheng Clinical College of Xuzhou Medical University, Yancheng, ChinaDepartment of Neurology, The First People’s Hospital of Yancheng, The Yancheng Clinical College of Xuzhou Medical University, Yancheng, ChinaDepartment of Hematology, The First People’s Hospital of Yancheng, The Yancheng Clinical College of Xuzhou Medical University, Yancheng, ChinaDepartment of Hematology, The First People’s Hospital of Yancheng, The Yancheng Clinical College of Xuzhou Medical University, Yancheng, ChinaDepartment of Hematology, The First People’s Hospital of Yancheng, The Yancheng Clinical College of Xuzhou Medical University, Yancheng, ChinaDepartment of Hematology, The First People’s Hospital of Yancheng, The Yancheng Clinical College of Xuzhou Medical University, Yancheng, ChinaDepartment of Hematology, The First People’s Hospital of Yancheng, The Yancheng Clinical College of Xuzhou Medical University, Yancheng, ChinaBackgroundWaldenstrom Macroglobulinemia (WM) is a rare and indolent lymphoma of B-cell origin characterized by elevated monoclonal IgM, with MYD88L265P mutation and CXCR4 mutation as common molecular alterations. B-cell Acute Lymphoblastic Leukemia (B-ALL) is clinically heterogeneous, characterized by abnormal proliferation and aggregation of immature lymphocytes in the bone marrow and lymphoid tissue. WM and ALL are hematologic malignancies of B-cell origin with completely different clinical manifestations and biological features. KMT2D and MECOM mutations are very rare in ALL and usually indicate poor disease prognosis. The coexistence of WM and ALL with KMT2D and MECOM mutations have not been reported.Case presentationA 74-year-old female patient was diagnosed with WM in July 2018 and received four cycles of chemotherapy of bortezomib and dexamethasone. In November 2018, she received immunomodulator thalidomide as maintenance therapy. In November 2020, Bruton’s Tyrosine Kinase inhibitors (BTKi) has been introduced into the Chinese market and she took zanubrutinib orally at a dose of 80 mg per day. The disease remained in remission. In December 2021, she presented with multiple enlarged lymph nodes throughout the body. Bone marrow and next-generation sequencing (NGS) suggested the coexistence of WM and B-ALL with KMT2D and MECOM mutations. The patient was treated with zanubrutinib in combination with vincristine and dexamethasone, after which she developed severe myelosuppression and septicemia. The patient finally got remission. Due to the patient’s age and poor status, she refused intravenous chemotherapy and is currently treated with zanubrutinib.ConclusionsThe coexistence of WM and B-ALL is very rare and has not been reported. The presence of both KMT2D and MECOM mutations predicts a poor prognosis and the possibility of insensitivity to conventional treatment options. BTKi achieves its anti-tumor effects by inhibiting BTK activation and blocking a series of malignant transformations in B-cell tumors. In addition, it also acts on T-cell immunity and tumor microenvironment. Combination therapy based on BTKi may improve the prognosis of this patient.https://www.frontiersin.org/articles/10.3389/fimmu.2022.1001482/fullWaldenstrom Macroglobulinemiaacute lymphoblastic leukemiaB cellplasma cellsIgMMYD88 |
| spellingShingle | Lingling Wang Jiao Tang Jun Feng Yongfen Huang Yuexin Cheng Hao Xu Yuqing Miao Case report: A rare case of coexisting Waldenstrom Macroglobulinemia and B-cell acute lymphoblastic leukemia with KMT2D and MECOM mutations Frontiers in Immunology Waldenstrom Macroglobulinemia acute lymphoblastic leukemia B cell plasma cells IgM MYD88 |
| title | Case report: A rare case of coexisting Waldenstrom Macroglobulinemia and B-cell acute lymphoblastic leukemia with KMT2D and MECOM mutations |
| title_full | Case report: A rare case of coexisting Waldenstrom Macroglobulinemia and B-cell acute lymphoblastic leukemia with KMT2D and MECOM mutations |
| title_fullStr | Case report: A rare case of coexisting Waldenstrom Macroglobulinemia and B-cell acute lymphoblastic leukemia with KMT2D and MECOM mutations |
| title_full_unstemmed | Case report: A rare case of coexisting Waldenstrom Macroglobulinemia and B-cell acute lymphoblastic leukemia with KMT2D and MECOM mutations |
| title_short | Case report: A rare case of coexisting Waldenstrom Macroglobulinemia and B-cell acute lymphoblastic leukemia with KMT2D and MECOM mutations |
| title_sort | case report a rare case of coexisting waldenstrom macroglobulinemia and b cell acute lymphoblastic leukemia with kmt2d and mecom mutations |
| topic | Waldenstrom Macroglobulinemia acute lymphoblastic leukemia B cell plasma cells IgM MYD88 |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2022.1001482/full |
| work_keys_str_mv | AT linglingwang casereportararecaseofcoexistingwaldenstrommacroglobulinemiaandbcellacutelymphoblasticleukemiawithkmt2dandmecommutations AT jiaotang casereportararecaseofcoexistingwaldenstrommacroglobulinemiaandbcellacutelymphoblasticleukemiawithkmt2dandmecommutations AT junfeng casereportararecaseofcoexistingwaldenstrommacroglobulinemiaandbcellacutelymphoblasticleukemiawithkmt2dandmecommutations AT yongfenhuang casereportararecaseofcoexistingwaldenstrommacroglobulinemiaandbcellacutelymphoblasticleukemiawithkmt2dandmecommutations AT yuexincheng casereportararecaseofcoexistingwaldenstrommacroglobulinemiaandbcellacutelymphoblasticleukemiawithkmt2dandmecommutations AT haoxu casereportararecaseofcoexistingwaldenstrommacroglobulinemiaandbcellacutelymphoblasticleukemiawithkmt2dandmecommutations AT yuqingmiao casereportararecaseofcoexistingwaldenstrommacroglobulinemiaandbcellacutelymphoblasticleukemiawithkmt2dandmecommutations |