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Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation. A Case Report

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. About 25% of patients develop hematopoietic malignancies. We report on a case of acute myeloid leukemia (M2) in a 21-year-old...

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Autores principales: Park, So Young, Chae, Min Byoung, Kwack, Yee Gyung, Lee, Moon Hee, Kim, Inho, Kim, Young Soo, Kim, Chul Soo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Association of Internal Medicine 2002
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531678/
https://www.ncbi.nlm.nih.gov/pubmed/12298432
http://dx.doi.org/10.3904/kjim.2002.17.3.204
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author Park, So Young
Chae, Min Byoung
Kwack, Yee Gyung
Lee, Moon Hee
Kim, Inho
Kim, Young Soo
Kim, Chul Soo
author_facet Park, So Young
Chae, Min Byoung
Kwack, Yee Gyung
Lee, Moon Hee
Kim, Inho
Kim, Young Soo
Kim, Chul Soo
author_sort Park, So Young
collection PubMed
description Shwachman-Diamond syndrome (SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. About 25% of patients develop hematopoietic malignancies. We report on a case of acute myeloid leukemia (M2) in a 21-year-old woman affected by SDS. She was treated with conventional chemotherapy (idarubicin plus cytarabine) and reached complete remission of leukemia. After induction chemotherapy, she underwent allogeneic bone marrow transplantation (BMT). The BMT preparative regimen consisted of total body irradiation (TBI) followed by cyclophosphamide. Cyclosporin A and short term methotrexate were used for graft-versus-host disease prophylaxis. After a follow-up of 12 months, she is alive leukemia free off any immunosuppressive agent. Although experience in this field is scarce, we speculate that bone marrow failure in SDS is an indication for BMT which is the only curative treatment option.
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spelling pubmed-45316782015-10-02 Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation. A Case Report Park, So Young Chae, Min Byoung Kwack, Yee Gyung Lee, Moon Hee Kim, Inho Kim, Young Soo Kim, Chul Soo Korean J Intern Med Case Report Shwachman-Diamond syndrome (SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. About 25% of patients develop hematopoietic malignancies. We report on a case of acute myeloid leukemia (M2) in a 21-year-old woman affected by SDS. She was treated with conventional chemotherapy (idarubicin plus cytarabine) and reached complete remission of leukemia. After induction chemotherapy, she underwent allogeneic bone marrow transplantation (BMT). The BMT preparative regimen consisted of total body irradiation (TBI) followed by cyclophosphamide. Cyclosporin A and short term methotrexate were used for graft-versus-host disease prophylaxis. After a follow-up of 12 months, she is alive leukemia free off any immunosuppressive agent. Although experience in this field is scarce, we speculate that bone marrow failure in SDS is an indication for BMT which is the only curative treatment option. Korean Association of Internal Medicine 2002-09 /pmc/articles/PMC4531678/ /pubmed/12298432 http://dx.doi.org/10.3904/kjim.2002.17.3.204 Text en Copyright © 2002 The Korean Association of Internal Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Park, So Young
Chae, Min Byoung
Kwack, Yee Gyung
Lee, Moon Hee
Kim, Inho
Kim, Young Soo
Kim, Chul Soo
Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation. A Case Report
title Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation. A Case Report
title_full Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation. A Case Report
title_fullStr Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation. A Case Report
title_full_unstemmed Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation. A Case Report
title_short Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation. A Case Report
title_sort allogeneic bone marrow transplantation in shwachman-diamond syndrome with malignant myeloid transformation. a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531678/
https://www.ncbi.nlm.nih.gov/pubmed/12298432
http://dx.doi.org/10.3904/kjim.2002.17.3.204
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