scholarly journals Sudden unexpected death caused by infantile acute lymphoblastic leukaemia

2021 ◽  
Vol 2021 (8) ◽  
Author(s):  
Kei Morota ◽  
Mariko Shimizu ◽  
Ryo Sugitate ◽  
Munenori Ide ◽  
Genki Yamato ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukaemia ◽  
Emergency Room ◽  
Lymphoblastic Leukaemia ◽  
Negative Impact ◽  
Severe Anaemia ◽  
Unexpected Death ◽  
Normal Birth ◽  
Skin Nodule ◽  
The Family ◽  
Detection And Diagnosis

ABSTRACT A 7-week-old girl with a normal birth history suddenly developed respiratory distress while feeding. Cardiopulmonary resuscitation was initiated at home after she had a cardiac arrest and was continued in the emergency room but all efforts at resuscitation proved unsuccessful and she died 2 h after presentation. Investigations performed in the emergency room revealed that she had a significantly high white blood cell count and severe anaemia. The cause of death was identified as KMT2A-rearranged infantile acute lymphoblastic leukaemia based on cytogenetic tests. She had no abnormalities at the 4-week check-up; however, she developed a skin nodule on her abdomen thereafter, and the family did not consult a doctor for fear of contracting COVID-19. Early detection and diagnosis could have changed the prognosis of the patient. The present case highlights the negative impact of the reduction of outpatient consultations during the COVID-19 pandemic.

Allelic Forms Of PRDM9 Associated With High Hyperdiploid Childhood Acute Lymphoblastic Leukaemia

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 1351-1351
Author(s):  
Eleanor L Woodward ◽  
Martin L. Olsson ◽  
Bertil Johansson ◽  
Kajsa Paulsson
Keyword(s):  
Acute Lymphoblastic Leukaemia ◽  
Meiotic Recombination ◽  
Lymphoblastic Leukaemia ◽  
Conflicts Of Interest ◽  
Control Cohort ◽  
Childhood All ◽  
Significant Difference ◽  
The Family ◽  
Rare Alleles ◽  
Independent Cohort

Abstract Whilst a great deal is known about acquired somatic aberrations associated with the diagnosis and prognosis of acute leukaemias, relatively little is known about the effects of germline variation. A recent study reported a link between germline variations in the zinc finger (ZnF) binding domain array of the PR domain-containing 9 (PRDM9) gene, regulator of meiotic recombination, with the development of acute lymphoblastic leukaemia (ALL) in children. An excess of rare PRDM9 alleles that affect meiotic recombination events were seen in parents of children affected with B-cell precursor ALL (pre-B-ALL), and in an independent cohort of children with pre-B-ALL; in particular in aneuploid and infant ALL. In the present study, we carried out Sanger sequencing to investigate variation of PRDM9 alleles in a cohort of parents (n=59) with children diagnosed with high hyperdiploid ALL (HeH; 51-67 chromosomes) (n=31) and a control cohort of individuals (n=66) from the south of Sweden. Whereas similar numbers of rare PRDM9 alleles were observed in both groups, a larger number of rare alleles that affect recombination events were observed in the parents from the family cohort with children diagnosed with HeH ALL compared to individuals of the population control cohort (15.3% vs. 4.5%, P=0.0414). Two-thirds of the parents transmitted the rare allele to their affected children. A previously unreported ZnF repeat was also detected in two individuals of the control cohort but it was not detected in the family cohort. A statistically significant difference in frequency of rare alleles affecting recombination events between the two groups indicates a true association between PRDM9 allelic forms and HeH ALL in an independent cohort. Thus, our results confirm the previous findings that PRDM9 may play a role in the development of childhood ALL. Disclosures: No relevant conflicts of interest to declare.

Screening for the P2RY8-CRLF2 fusion gene in childhood acute lymphoblastic leukaemia

2011 ◽  
Vol 223 (03) ◽  
Author(s):  
M Morak ◽  
R Joas ◽  
S Fischer ◽  
A Attarbaschi ◽  
G Mann ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukaemia ◽  
Lymphoblastic Leukaemia ◽  
Fusion Gene ◽  
Childhood Acute Lymphoblastic Leukaemia

Cerebral sinovenous thrombosis during asparaginase treatment

2003 ◽  
Vol 23 (03) ◽  
pp. 109-112
Author(s):  
A. Hirt ◽  
C. Zwicky ◽  
W.A. Wuillemin ◽  
K. Leibundgut
Keyword(s):  
Acute Lymphoblastic Leukaemia ◽  
Lymphoblastic Leukaemia ◽  
Induction Treatment ◽  
Pathogenic Mechanisms ◽  
Cerebral Sinovenous Thrombosis ◽  
Haemorrhagic Infarction ◽  
Sinovenous Thrombosis

SummaryA boy (age: 71/12 years) with acute lymphoblastic leukaemia developed thrombosis of the sinus sagitalis superior with secondary haemorrhagic infarction while on induction treatment with vincristine, prednisone, and asparaginase. Based on this report, the potential pathogenic mechanisms are discussed with respect to congenital prothrombotic defects as well as to the role of antileukaemic treatment. Current hypotheses on mechanisms for thromboembolism in children and proposed prophylactic strategies are briefly summarized.

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