scholarly journals Augmented Genetic Risk of Thrombophilia in Pediatric Acute Lymphoblastic Leukemia: Case report and Review of Literature

Author(s):  
laila sherief ◽  
marwa zakaria ◽  
basma soliman ◽  
naglaa kamal ◽  
Hekmat Khan ◽  
...  

Abstract Acute Lymphoblastic Leukemia (ALL) is the most common malignancy in children. Venous thromboembolism (VTE) is relatively common in children with acute ALL that usually appears after the diagnosis or during therapy secondary to many associated risk factors. Here in we report for the first time a child who developed cerebral venous sinus thrombosis (CVST) prior to the diagnosis of ALL.

Caryologia ◽  
2011 ◽  
Vol 64 (1) ◽  
pp. 33-41 ◽  
Author(s):  
Somanath Padhi ◽  
Rajlaxmi Sarangi ◽  
Pranati Mohanty ◽  
Rupa Das ◽  
Sukumar Chakravarty ◽  
...  

2021 ◽  
Vol 49 (1) ◽  
pp. 030006052098629
Author(s):  
Jingwei Liu ◽  
Chunfeng Yang ◽  
Zhen Zhang ◽  
Yumei Li

Acute lymphoblastic leukemia (ALL) is a hematological malignancy. There are many risk factors for thrombus development in patients with ALL, and thrombi may develop in different parts of the body. Cerebral venous sinus thrombosis (CVST) is a rare complication of ALL that usually appears during treatment. We present a patient who developed CVST twice, once before diagnosis and once after treatment for ALL. We also reviewed the literature describing ALL and CVST.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Shumaila Sayyab ◽  
Anders Lundmark ◽  
Malin Larsson ◽  
Markus Ringnér ◽  
Sara Nystedt ◽  
...  

AbstractThe mechanisms driving clonal heterogeneity and evolution in relapsed pediatric acute lymphoblastic leukemia (ALL) are not fully understood. We performed whole genome sequencing of samples collected at diagnosis, relapse(s) and remission from 29 Nordic patients. Somatic point mutations and large-scale structural variants were called using individually matched remission samples as controls, and allelic expression of the mutations was assessed in ALL cells using RNA-sequencing. We observed an increased burden of somatic mutations at relapse, compared to diagnosis, and at second relapse compared to first relapse. In addition to 29 known ALL driver genes, of which nine genes carried recurrent protein-coding mutations in our sample set, we identified putative non-protein coding mutations in regulatory regions of seven additional genes that have not previously been described in ALL. Cluster analysis of hundreds of somatic mutations per sample revealed three distinct evolutionary trajectories during ALL progression from diagnosis to relapse. The evolutionary trajectories provide insight into the mutational mechanisms leading relapse in ALL and could offer biomarkers for improved risk prediction in individual patients.


2021 ◽  
Vol 10 (9) ◽  
pp. 1926
Author(s):  
Hiroto Inaba ◽  
Ching-Hon Pui

The outcomes of pediatric acute lymphoblastic leukemia (ALL) have improved remarkably during the last five decades. Such improvements were made possible by the incorporation of new diagnostic technologies, the effective administration of conventional chemotherapeutic agents, and the provision of better supportive care. With the 5-year survival rates now exceeding 90% in high-income countries, the goal for the next decade is to improve survival further toward 100% and to minimize treatment-related adverse effects. Based on genome-wide analyses, especially RNA-sequencing analyses, ALL can be classified into more than 20 B-lineage subtypes and more than 10 T-lineage subtypes with prognostic and therapeutic implications. Response to treatment is another critical prognostic factor, and detailed analysis of minimal residual disease can detect levels as low as one ALL cell among 1 million total cells. Such detailed analysis can facilitate the rational use of molecular targeted therapy and immunotherapy, which have emerged as new treatment strategies that can replace or reduce the use of conventional chemotherapy.


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