A familial SAMD9 variant present in pediatric myelodysplastic syndrome

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...

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Autores principales: Rahim, Mahvish Q., Rahrig, April, Overholt, Kathleen, Conboy, Erin, Czader, Magdalena, Saraf, Amanda June
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2023
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240840/
https://www.ncbi.nlm.nih.gov/pubmed/37160314
http://dx.doi.org/10.1101/mcs.a006256
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author Rahim, Mahvish Q.
Rahrig, April
Overholt, Kathleen
Conboy, Erin
Czader, Magdalena
Saraf, Amanda June
author_facet Rahim, Mahvish Q.
Rahrig, April
Overholt, Kathleen
Conboy, Erin
Czader, Magdalena
Saraf, Amanda June
author_sort Rahim, Mahvish Q.
collection PubMed
description 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 a SAMD9 germline 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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spelling pubmed-102408402023-06-06 A familial SAMD9 variant present in pediatric myelodysplastic syndrome Rahim, Mahvish Q. Rahrig, April Overholt, Kathleen Conboy, Erin Czader, Magdalena Saraf, Amanda June Cold Spring Harb Mol Case Stud Research Report 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 a SAMD9 germline 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. Cold Spring Harbor Laboratory Press 2023-04 /pmc/articles/PMC10240840/ /pubmed/37160314 http://dx.doi.org/10.1101/mcs.a006256 Text en © 2023 Rahim et al.; Published by Cold Spring Harbor Laboratory Press https://creativecommons.org/licenses/by/4.0/This article is distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted reuse and redistribution provided that the original author and source are credited.
spellingShingle Research Report
Rahim, Mahvish Q.
Rahrig, April
Overholt, Kathleen
Conboy, Erin
Czader, Magdalena
Saraf, Amanda June
A familial SAMD9 variant present in pediatric myelodysplastic syndrome
title A familial SAMD9 variant present in pediatric myelodysplastic syndrome
title_full A familial SAMD9 variant present in pediatric myelodysplastic syndrome
title_fullStr A familial SAMD9 variant present in pediatric myelodysplastic syndrome
title_full_unstemmed A familial SAMD9 variant present in pediatric myelodysplastic syndrome
title_short A familial SAMD9 variant present in pediatric myelodysplastic syndrome
title_sort familial samd9 variant present in pediatric myelodysplastic syndrome
topic Research Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240840/
https://www.ncbi.nlm.nih.gov/pubmed/37160314
http://dx.doi.org/10.1101/mcs.a006256
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