Cold Spring Harbor molecular case studies, volume 9, issue 2, pages a006256

A familialSAMD9variant present in pediatric myelodysplastic syndrome

Mahvish Rahim ^{1, 2}

April L. Rahrig ^{1, 2}

Kathleen Overholt ^{1, 2}

Erin Conboy ^{2, 3}

Magdalena Czader ⁴

Amanda J. Saraf ^{1, 2}

1Pediatric Hematology Oncology, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA |

2Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA |

3Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA |

⁴

4Department of Pathology and Laboratory Medicine/Indiana University Healthy Pathology Laboratory, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA

Publication type: Journal Article

Publication date: 2023-04-01

Cold Spring Harbor Laboratory

Journal: Cold Spring Harbor molecular case studies

scimago Q2

SJR: 0.801

CiteScore: 3.2

Impact factor: 1.8

ISSN: 23732873, 23732865

DOI: 10.1101/mcs.a006256

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PubMed ID: 37160314

Abstract

Myelodysplastic syndrome (MDS) is a rare pediatric diagnosis characterized by ineffective hematopoiesis with potential to evolve into acute myelogenous leukemia (AML). In this report, we describe a unique case of a 17-yr-old female with an aggressive course of MDS with excess blasts who was found to have monosomy 7 and aSAMD9germline variant, which has not previously been associated with a MDS phenotype. This case of MDS was extremely rapidly progressing, showing resistance to chemotherapy and stem cell transplant, unfortunately resulting in patient death. It is imperative to further investigate this rare variant to aid in the future care of patients with this variant.

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Publisher

Cold Spring Harbor Laboratory

Journal

Cold Spring Harbor molecular case studies

scimago Q2

SJR

0.801

CiteScore

3.2

Impact factor

1.8

ISSN

23732873 (Electronic)

23732865 (Print)

A familialSAMD9variant present in pediatric myelodysplastic syndrome

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