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Research Article
Sara Aslam
University of the Punjab
Corresponding Author
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This work is licensed under a CC BY 4.0 License. Read Full License
Background: Hereditary cancer susceptibility syndrome (HCSS) has been reported to impact cancer predisposition at an early age, therefore, identification of HCSS has found to be crucial for surveillance, managing therapeutic interventions and referring the patients and their families for genetic counselling. The aims of this study are to assess the prevalence of HCSS as hereditary leukemia and hematologic malignancy syndrome by using ACMG guidelines and to assess parental consanguinity as the criterion for referring patients for the genetic counselling.
Methods: A total of 300 acute lymphoblastic leukemia subjects were recruited from the Children’s Hospital, Lahore, Pakistan during the period of December 2018 to September 2019. Structured self-reporting questionnaire based on family and medical history of the disease was utilized for the data collection.
Results: In our cohort, 60.40% of ALL patients were identified to have HCSS and among them 40.65% patients solely fulfil the criteria due to the presence of parental consanguinity. Parental consanguinity was shown to have protective impact on the onset at early age of disease [OD=0.44 (0.25-0.77), p-value= 0.00] while family history of cancer increase the risk of cardiotoxicity [OD= 2.46 (1.15-5.24), p-value=0.02]. Parental consanguinity in the population shows no significant impact on the family history of cancer and the number of relatives with cancer.
Conclusions: The higher prevalence of HCSS in Pakistani population is attributed to the presence of parental consanguinity in more than 50% of the patients when assessed through ACMG guidelines. Our study suggests revisiting ACMG guidelines for the criterion of parental consanguinity in the highly consanguineous population and formulating the score based criteria for the identification of inherited ALL for genetic counselling.
Keywords
Consanguinity, Hereditary cancer susceptibility syndrome (HCSS), Risk assessment, ACMG guidelines, acute lymphoblastic leukemia (ALL)
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CURRENT STATUS: Under Review
Version 1
Posted 04 Jan, 2021
No community comments so far
Editorial decision: Major revision
On 03 Mar, 2021
Reviews received
Received 17 Feb, 2021
Reviewers agreed
On 05 Feb, 2021
Reviews received
Received 01 Feb, 2021
Reviewers agreed
On 30 Jan, 2021
Reviewers agreed
On 20 Jan, 2021
Reviewers invited
Invitations sent on 03 Jan, 2021
Editor assigned
On 29 Dec, 2020
Editor invited
On 29 Dec, 2020
Submission checks complete
On 29 Dec, 2020
First submitted
On 21 Dec, 2020
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Subject Areas
Pediatrics
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A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
This preprint is under consideration at BMC Pediatrics. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research Article
Sara Aslam
University of the Punjab
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 04 Jan, 2021
No community comments so far
Editorial decision: Major revision
On 03 Mar, 2021
Reviews received
Received 17 Feb, 2021
Reviewers agreed
On 05 Feb, 2021
Reviews received
Received 01 Feb, 2021
Reviewers agreed
On 30 Jan, 2021
Reviewers agreed
On 20 Jan, 2021
Reviewers invited
Invitations sent on 03 Jan, 2021
Editor assigned
On 29 Dec, 2020
Editor invited
On 29 Dec, 2020
Submission checks complete
On 29 Dec, 2020
First submitted
On 21 Dec, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Pediatrics
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background: Hereditary cancer susceptibility syndrome (HCSS) has been reported to impact cancer predisposition at an early age, therefore, identification of HCSS has found to be crucial for surveillance, managing therapeutic interventions and referring the patients and their families for genetic counselling. The aims of this study are to assess the prevalence of HCSS as hereditary leukemia and hematologic malignancy syndrome by using ACMG guidelines and to assess parental consanguinity as the criterion for referring patients for the genetic counselling.
Methods: A total of 300 acute lymphoblastic leukemia subjects were recruited from the Children’s Hospital, Lahore, Pakistan during the period of December 2018 to September 2019. Structured self-reporting questionnaire based on family and medical history of the disease was utilized for the data collection.
Results: In our cohort, 60.40% of ALL patients were identified to have HCSS and among them 40.65% patients solely fulfil the criteria due to the presence of parental consanguinity. Parental consanguinity was shown to have protective impact on the onset at early age of disease [OD=0.44 (0.25-0.77), p-value= 0.00] while family history of cancer increase the risk of cardiotoxicity [OD= 2.46 (1.15-5.24), p-value=0.02]. Parental consanguinity in the population shows no significant impact on the family history of cancer and the number of relatives with cancer.
Conclusions: The higher prevalence of HCSS in Pakistani population is attributed to the presence of parental consanguinity in more than 50% of the patients when assessed through ACMG guidelines. Our study suggests revisiting ACMG guidelines for the criterion of parental consanguinity in the highly consanguineous population and formulating the score based criteria for the identification of inherited ALL for genetic counselling.
Figure 1
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