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jian li
jian li

Public Documents 3
Innovative treatment model for malignant rhabdoid tumor
Xinrong Lin
jian li

Xinrong Lin

and 6 more

August 29, 2024
MRT is a highly malignant tumor that commonly occurs in children. Despite the current multidisciplinary treatment approach combining surgery, chemotherapy, and radiotherapy, the 3-year survival rate for affected children remains significantly low. This article presents three cases where a novel chemotherapy regimen and maintenance therapy were employed in conjunction with surgical and radiation treatments, resulting in favorable therapeutic outcomes. These findings demonstrate the feasibility and potential of the innovative personalized treatment approach utilized. Personalized treatment involves tailoring therapeutic strategies to the specific characteristics and biological behavior of individual patients. This approach holds promise in improving outcomes for children with MRT. Further research and clinical application will contribute to advancing the use of personalized treatment in the management of MRT.
A neonatal case of congenital Blastic plasmacytoid dendritic cell neoplasm with KMT2C...
jian li
Jun wang

jian li

and 6 more

June 30, 2022
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic neoplasm derived from plasmacytoid dendritic cell precursors. The malignancy was characterized by cutaneous and bone marrow involvement and leukemic spread,predominantly involving elderly patients. Pediatric cases of BPDCN are much fewer reported in the literature, making the management of pediatric BPDCN challenging. We report a congenital BPDCN patient who manifested with neutropenia and nodular skin lesions. Whole-exome sequencing suggests the presence of kmt2c gene duplication. She died four months after diagnosis. This case report reminds clinicians, especially neonatologists, to consider the possibility of BPCDN when finding neonates present with rash(such as purplish nodules, bruiselike macules) and a cytopenia. In addition, this study suggests that the KMTC2 gene may play a vital role in the pathogenesis of BPDCN.
Umbilical cord blood transplantation for MYH9-related disorders: a case report and sy...
jian li
Jun wang

jian li

and 3 more

March 31, 2022
MYH9-related disorders (MYH9-RD) are the leading cause of inherited thrombocytopenia(IPD). This autosomal-dominant macrothrombocytopenia syndrome consisted of the May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndromes. To date, hematopoietic stem cell transplantation (HSCT) is the only curative therapy for congenital thrombocytopenias, such as Wiskott-Aldrich syndrome(WAS) and Glanzmann thrombasthenia (GT). However, no relevant literature reported on the outcome of MYH9-related disorders. We first described a pediatric MYH9-RD patient who underwent a successful myeloablative allogeneic HSCT with umbilical cord blood stem cells resulting in complete resolution. Now one year passed after HSCT. The patient’s condition remained stable during the follow-up. This case highlights the implications of curative therapy of HSCT in MYH9-RD patients.

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