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Article

Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report.

European journal of haematology - 1 Nov 2003

Lesesve Jean-François, Dugué Franck, Grégoire Marie-Josée, Witz Francis, Dror Yigal

Abstract excerpt

We report on a male patient affected by Shwachman Diamond syndrome (SDS) who presented an unusual delayed neutropenia and then developed a poorly differentiated acute myeloid leukaemia (M0-AML) with trilineage myelodysplasia in adulthood. Conventional cytogenetics revealed complex karyotypic changes (monosomies 20, 21, 22, additional 15p). The patient was treated with conventional chemotherapy but never reached...

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Source

Identifiers

PMID: 14667205
DOI: 10.1034/j.1600-0609.2003.00146.x

Genes

SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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