已发表论文

病例报告:在患有 KRAS/NRAS 基因突变的男孩的B细胞淋巴母细胞淋巴瘤治疗期间,髓样肉瘤的发展

 

Authors Yuan X, Yu U, Chen S, Xu H, Yi M, Jiang X, Song J, Chen X, Chen S, Lin Z, Li C, Wen F, Liu S

Received 27 September 2020

Accepted for publication 29 December 2020

Published 13 January 2021 Volume 2021:14 Pages 347—353

DOI https://doi.org/10.2147/OTT.S276912

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Nicola Silvestris

Abstract: Here, we report a rare case of a 12-year-old boy who was initially diagnosed with B cell lymphoblastic lymphoma (BLBL) and developed myeloid sarcoma (MS) eight months after chemotherapy. Next-generation sequencing (NGS) showed mutations of KRAS and NRAS genes in both the bone marrow and lymph node. He presented an abnormal karyotype of 46, XY, − 9, der (16) t (9; 16) (q13; q12), +mar. He received chemotherapy according to the South China Children’s Leukemia Group 2016 protocol. Complete remission was achieved by the 15th day post-treatment. Eight months later and immediately prior to the start of maintenance therapy, the patient developed fever, skin nodules in both upper arms, and enlargement of bilateral testes. Pathological analysis of skin and testicular biopsies suggested the diagnosis of myeloid sarcoma (MS). Again, NGS examination showed mutations of KRAS and NRAS genes. The patient underwent haploidentical hematopoietic stem cell transplantation but unfortunately did not survive. The interval of eight-month interval between the initial disease onset and MS brings into question whether MS developed as part of the initial onset of disease or as a secondary tumor in association with chemotherapy. Thus, understanding the pathogenesis of MS involving abnormalities of lymphoid progenitors may assist in the prediction of prognosis and development of novel target therapies.
Keywords: B cell lymphoblastic lymphoma, myeloid sarcoma, KRAS, NRAS, case report