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Hematologic complications with age in Shwachman-Diamond syndrome
Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome with leukemia predisposition. An understanding of the hematologic complications of SDS with age could guide clinical management, but data are limited for this rare disease. We conducted a cohort study of 153 subjects from...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society of Hematology
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753194/ https://www.ncbi.nlm.nih.gov/pubmed/34758064 http://dx.doi.org/10.1182/bloodadvances.2021005539 |
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author | Furutani, Elissa Liu, Shanshan Galvin, Ashley Steltz, Sarah Malsch, Maggie M. Loveless, Sara K. Mount, Leann Larson, Jordan H. Queenan, Kelan Bertuch, Alison A. Fleming, Mark D. Gansner, John M. Geddis, Amy E. Hanna, Rabi Keel, Sioban B. Lau, Bonnie W. Lipton, Jeffrey M. Lorsbach, Robert Nakano, Taizo A. Vlachos, Adrianna Wang, Winfred C. Davies, Stella M. Weller, Edie Myers, Kasiani C. Shimamura, Akiko |
author_facet | Furutani, Elissa Liu, Shanshan Galvin, Ashley Steltz, Sarah Malsch, Maggie M. Loveless, Sara K. Mount, Leann Larson, Jordan H. Queenan, Kelan Bertuch, Alison A. Fleming, Mark D. Gansner, John M. Geddis, Amy E. Hanna, Rabi Keel, Sioban B. Lau, Bonnie W. Lipton, Jeffrey M. Lorsbach, Robert Nakano, Taizo A. Vlachos, Adrianna Wang, Winfred C. Davies, Stella M. Weller, Edie Myers, Kasiani C. Shimamura, Akiko |
author_sort | Furutani, Elissa |
collection | PubMed |
description | Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome with leukemia predisposition. An understanding of the hematologic complications of SDS with age could guide clinical management, but data are limited for this rare disease. We conducted a cohort study of 153 subjects from 143 families with confirmed biallelic SBDS mutations enrolled on the North American Shwachman Diamond Registry or Bone Marrow Failure Registry. The SBDS c.258 + 2T>C variant was present in all but 1 patient. To evaluate the association between blood counts and age, 2146 blood counts were analyzed for 119 subjects. Absolute neutrophil counts were positively associated with age (P < .0001). Hemoglobin was also positively associated with age up to 18 years (P < .0001), but the association was negative thereafter (P = .0079). Platelet counts and marrow cellularity were negatively associated with age (P < .0001). Marrow cellularity did not correlate with blood counts. Severe marrow failure necessitating transplant developed in 8 subjects at a median age of 1.7 years (range, 0.4-39.5), with 7 of 8 requiring transplant prior to age 8 years. Twenty-six subjects (17%) developed a myeloid malignancy (16 myelodysplasia and 10 acute myeloid leukemia) at a median age of 12.3 years (range, 0.5-45.0) and 28.4 years (range, 14.4-47.3), respectively. A lymphoid malignancy developed in 1 patient at the age of 16.9 years. Hematologic complications were the major cause of mortality (17/20 deaths; 85%). These data inform surveillance of hematologic complications in SDS. |
format | Online Article Text |
id | pubmed-8753194 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | American Society of Hematology |
record_format | MEDLINE/PubMed |
spelling | pubmed-87531942022-01-12 Hematologic complications with age in Shwachman-Diamond syndrome Furutani, Elissa Liu, Shanshan Galvin, Ashley Steltz, Sarah Malsch, Maggie M. Loveless, Sara K. Mount, Leann Larson, Jordan H. Queenan, Kelan Bertuch, Alison A. Fleming, Mark D. Gansner, John M. Geddis, Amy E. Hanna, Rabi Keel, Sioban B. Lau, Bonnie W. Lipton, Jeffrey M. Lorsbach, Robert Nakano, Taizo A. Vlachos, Adrianna Wang, Winfred C. Davies, Stella M. Weller, Edie Myers, Kasiani C. Shimamura, Akiko Blood Adv Clinical Trials and Observations Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome with leukemia predisposition. An understanding of the hematologic complications of SDS with age could guide clinical management, but data are limited for this rare disease. We conducted a cohort study of 153 subjects from 143 families with confirmed biallelic SBDS mutations enrolled on the North American Shwachman Diamond Registry or Bone Marrow Failure Registry. The SBDS c.258 + 2T>C variant was present in all but 1 patient. To evaluate the association between blood counts and age, 2146 blood counts were analyzed for 119 subjects. Absolute neutrophil counts were positively associated with age (P < .0001). Hemoglobin was also positively associated with age up to 18 years (P < .0001), but the association was negative thereafter (P = .0079). Platelet counts and marrow cellularity were negatively associated with age (P < .0001). Marrow cellularity did not correlate with blood counts. Severe marrow failure necessitating transplant developed in 8 subjects at a median age of 1.7 years (range, 0.4-39.5), with 7 of 8 requiring transplant prior to age 8 years. Twenty-six subjects (17%) developed a myeloid malignancy (16 myelodysplasia and 10 acute myeloid leukemia) at a median age of 12.3 years (range, 0.5-45.0) and 28.4 years (range, 14.4-47.3), respectively. A lymphoid malignancy developed in 1 patient at the age of 16.9 years. Hematologic complications were the major cause of mortality (17/20 deaths; 85%). These data inform surveillance of hematologic complications in SDS. American Society of Hematology 2022-01-11 /pmc/articles/PMC8753194/ /pubmed/34758064 http://dx.doi.org/10.1182/bloodadvances.2021005539 Text en © 2022 by The American Society of Hematology. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved. |
spellingShingle | Clinical Trials and Observations Furutani, Elissa Liu, Shanshan Galvin, Ashley Steltz, Sarah Malsch, Maggie M. Loveless, Sara K. Mount, Leann Larson, Jordan H. Queenan, Kelan Bertuch, Alison A. Fleming, Mark D. Gansner, John M. Geddis, Amy E. Hanna, Rabi Keel, Sioban B. Lau, Bonnie W. Lipton, Jeffrey M. Lorsbach, Robert Nakano, Taizo A. Vlachos, Adrianna Wang, Winfred C. Davies, Stella M. Weller, Edie Myers, Kasiani C. Shimamura, Akiko Hematologic complications with age in Shwachman-Diamond syndrome |
title | Hematologic complications with age in Shwachman-Diamond syndrome |
title_full | Hematologic complications with age in Shwachman-Diamond syndrome |
title_fullStr | Hematologic complications with age in Shwachman-Diamond syndrome |
title_full_unstemmed | Hematologic complications with age in Shwachman-Diamond syndrome |
title_short | Hematologic complications with age in Shwachman-Diamond syndrome |
title_sort | hematologic complications with age in shwachman-diamond syndrome |
topic | Clinical Trials and Observations |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753194/ https://www.ncbi.nlm.nih.gov/pubmed/34758064 http://dx.doi.org/10.1182/bloodadvances.2021005539 |
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