Choi, Goda

Snijder, S

Zeerleder, S.

English

Dissertations of the University of Groningen

   University of GroningenAcute Myeloid Leukemia in a Patient with Shwachman-Diamond SyndromeChoi, Goda; Snijder, S; Zeerleder, S.Published in:Annals of Hematology & OncologyIMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite fromit. Please check the document version below.Document VersionPublisher's PDF, also known as Version of recordPublication date:2015Link to publication in University of Groningen/UMCG research databaseCitation for published version (APA):Choi, G., Snijder, S., & Zeerleder, S. (2015). Acute Myeloid Leukemia in a Patient with Shwachman-Diamond Syndrome. Annals of Hematology & Oncology, 2(1), [1020].CopyrightOther than for strictly personal use, it is not permitted to download or to forward/distribute the text or part of it without the consent of theauthor(s) and/or copyright holder(s), unless the work is under an open content license (like Creative Commons).The publication may also be distributed here under the terms of Article 25fa of the Dutch Copyright Act, indicated by the “Taverne” license.More information can be found on the University of Groningen website: https://www.rug.nl/library/open-access/self-archiving-pure/taverne-amendment.Take-down policyIf you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediatelyand investigate your claim.Downloaded from the University of Groningen/UMCG research database (Pure): http://www.rug.nl/research/portal. For technical reasons thenumber of authors shown on this cover page is limited to 10 maximum.Download date: 14-02-2023Citation: Choi G, Snijder S and Zeerleder SS. Acute Myeloid Leukemia in a Patient with Shwachman-Diamond Syndrome: Complex Cytogenetics Redefined. Ann Hematol Oncol. 2015;2(1): 1020.Ann Hematol Oncol - Volume 2 Issue 1 - 2015ISSN : 2375-7965 | www.austinpublishinggroup.com Choi et al. © All rights are reservedAnnals of Hematology & OncologyOpen AccessShwachman-(Bodian)-Diamond Syndrome (SDS) is a rare autosomal recessive disorder (OMIM #260400): A homozygous or compound heterozygous mutation in the SBDS gene causes karyotypic instability, predisposing hematopoietic cells to malignant transformation. We here present a 21-year-old male patient with SDS who has had chronic leukopenia and thrombocytopenia since 4 years before presenting with pancytopenia. Bone marrow aspirate showed massive infiltration with myeloid blasts (Figure, left panel). Cytogenetic analysis showed highly complex chromosomal abnormalities: 97~101, XXYY,-3,-5,+6,+6,+7,-8,-9,-Special Article - HematologyAcute Myeloid Leukemia in a Patient with Shwachman-Diamond Syndrome: Complex Cytogenetics RedefinedG Choi1*, S Snijder2 and S S Zeerleder1,31Department of Hematology, Academic Medical Center, University of Amsterdam, Netherlands2Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands3Department of Immunopathology, Sanquin Research and Landsteiner Laboratory of the AMC, Amsterdam, Netherlands*Corresponding author: G Choi, Department of Hematology, University Medical Center GroningenHanzeplein 19713 GZ Groningen, The Netherlands, Tel: +31 50 361 2354; Fax: +31 50 361 5960; Email: c.w.choi@umcg.nlReceived: December 04, 2014; Accepted: January 05, 2015; Published: January 07, 2015 11,-18,+22,+7~13mar [cp6] / 46,XY [4] (Figure, right panel) with FISH revealing KMT2A (MLL) amplification (11q23) (Figure inset). The diagnosis of poor risk acute myeloid leukemia was made. The patient was treated with high-dose chemotherapy followed by a Stem Cell Transplantation (SCT) from an unrelated donor. There are ongoing discussions whether SCT should be recommended to young adults with SDS before malignant transformation. It remains to be established whether the benefits of SCT outweigh the risk of treatment-related complications.Figure: Giemsa stain, showing irregularly shaped myeloid blasts with monocytic morphology (left panel); karyogram showing multiple chromosomal abnormalities and hypertetraploidy (right panel); malignant cells had >20 signals for KMT2A vs 2 signals in the normal cell (inset).

Acute Myeloid Leukemia in a Patient with Shwachman-Diamond Syndrome

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Acute Myeloid Leukemia in a Patient with Shwachman-Diamond Syndrome

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