Case Report

Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature

Kanwaldeep Mallhi

Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

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David B. Dix,

David B. Dix

Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

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Karen Y. Niederhoffer,

Karen Y. Niederhoffer

Department of Medical Genetics, Provincial Medical Genetics Program, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

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Linlea Armstrong,

Linlea Armstrong

Department of Medical Genetics, Provincial Medical Genetics Program, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

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Jacob Rozmus,

Corresponding Author

Jacob Rozmus

[email protected]

Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

Correspondence

Jacob Rozmus, Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.

Email: [email protected]

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Kanwaldeep Mallhi,

Kanwaldeep Mallhi

Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

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David B. Dix,

David B. Dix

Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

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Karen Y. Niederhoffer,

Karen Y. Niederhoffer

Department of Medical Genetics, Provincial Medical Genetics Program, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

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Linlea Armstrong,

Linlea Armstrong

Department of Medical Genetics, Provincial Medical Genetics Program, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

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Jacob Rozmus,

Corresponding Author

Jacob Rozmus

[email protected]

Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

Correspondence

Jacob Rozmus, Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.

Email: [email protected]

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First published: 15 July 2016

https://doi.org/10.1111/petr.12764

Citations: 5

All authors have contributed to the manuscript in significant ways and have reviewed the manuscript content.

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Abstract

Germline GATA2 mutations have been associated with a vast array of clinical manifestations, as well as hematological deficiencies and a propensity to AML or MDS. We present two cases of pediatric AML/MDS with underlying GATA2 mutations who underwent a successful umbilical cord hematopoietic stem cell transplantation using two different conditioning regimens. These cases illustrate the importance of recognizing the clinical features associated with GATA2 mutations and performing the appropriate molecular testing. Diagnosis of heritable gene mutations associated with familial AML/MDS has significant clinical implication for the patients and affected families.

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Volume20, Issue7

November 2016

Pages 1004-1007

Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature

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Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature

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