2024-03-14 08:19:33
Germline mutations of the checkpoint kinase 2 gene (CHEK2) may increase the risk of solid tumors, but have not yet been identified as a risk factor for lymphocytic leukemia (B-ALL). However, a recent case of a child with B lymphoblastic lymphoma in whom this mutation was detected was recently reported. He was treated with CD19 antigen-directed chimeric antigen receptor T-cell therapy (CAR-T), which is used to treat relapsed/refractory (R/R) B-ALL.
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CHEK2 is a tumor suppressor gene that plays a crucial role in the cell cycle and DNA repair. It is still unclear whether this is a true tumor disposition syndrome gene. However, there is evidence that this gene plays an important role in susceptibility to cancer, especially breast cancer, but also prostate, kidney, thyroid and colon cancer. However, lymphatic malignancies, particularly B-ALL, appear to occur very rarely in association with CHEK2 mutations. To the best of our knowledge, there has been no report on the use of CAR T-cell therapy for relapsed B-ALL in a patient with a CHEK2 mutation. Now the therapy has been successfully used to treat early relapsed pediatric B-ALL in a patient with a CHEK2 mutation and papillary thyroid carcinoma.
The 12-year-old patient with a history of hypothyroidism presented to the clinic with generalized petechiae and hematuria. Subsequent investigations led to the diagnosis of high-risk B-ALL without extramedullary involvement. Cytogenetic analysis revealed a normal karyotype, but fluorescence in situ hybridization (FISH) revealed 93% positivity for the CRLF2::P2RY8 rearrangement. The boy was treated with chemotherapy according to the Children’s Oncology Group (COG) AALL1131 therapeutic guidelines and achieved complete remission. Seven months after diagnosis, he was diagnosed with papillary thyroid carcinoma without evidence of metastatic disease.
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#Pediatric #BALL #CART #CHEK2 #mutation