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EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis

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EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis. / Usemann, Jakob; Ernst, Thomas; Schäfer, Vivien; Lehmberg, Kai; Seeger, Karl.

in: AM J MED GENET A, Jahrgang 170, Nr. 5, 05.2016, S. 1274-7.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Usemann, J, Ernst, T, Schäfer, V, Lehmberg, K & Seeger, K 2016, 'EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis', AM J MED GENET A, Jg. 170, Nr. 5, S. 1274-7. https://doi.org/10.1002/ajmg.a.37562

APA

Usemann, J., Ernst, T., Schäfer, V., Lehmberg, K., & Seeger, K. (2016). EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis. AM J MED GENET A, 170(5), 1274-7. https://doi.org/10.1002/ajmg.a.37562

Vancouver

Usemann J, Ernst T, Schäfer V, Lehmberg K, Seeger K. EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis. AM J MED GENET A. 2016 Mai;170(5):1274-7. https://doi.org/10.1002/ajmg.a.37562

Bibtex

@article{edec64fd7bce448a9cb643c4497de0e2,
title = "EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis",
abstract = "Weaver syndrome is an overgrowth syndrome characterized by pre- and postnatal overgrowth with distinctive craniofacial appearance. Mutations in the enhancer of zeste homolog 2 (EZH2) gene were found to cause Weaver syndrome, and have been associated with hematologic malignancies, including acute myeloid leukemia (AML). We present the first report of a patient with Weaver syndrome, who developed AML and harbored an EZH2 mutation. The clinical course of the 16-year-old female adolescent patient was complicated by a secondary hemophagocytic lymphohistiocytosis. Genomic DNA was isolated from bone marrow cells at AML diagnosis. Polymerase chain reactions were performed with primers covering all exons of the EZH2 gene. We found a novel heterozygous EZH2 mutation within exon 5 that caused an amino acid change from proline to leucine at position 132 (p.Pro132Leu) within the catalytic D1 domain. Analysis of a remission sample also showed this mutation, indicating a germline mutation. It remains to be elucidated whether EZH2 mutations contribute to disease severity in specific AML cases. {\textcopyright} 2016 Wiley Periodicals, Inc.",
author = "Jakob Usemann and Thomas Ernst and Vivien Sch{\"a}fer and Kai Lehmberg and Karl Seeger",
note = "{\textcopyright} 2016 Wiley Periodicals, Inc.",
year = "2016",
month = may,
doi = "10.1002/ajmg.a.37562",
language = "English",
volume = "170",
pages = "1274--7",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis

AU - Usemann, Jakob

AU - Ernst, Thomas

AU - Schäfer, Vivien

AU - Lehmberg, Kai

AU - Seeger, Karl

N1 - © 2016 Wiley Periodicals, Inc.

PY - 2016/5

Y1 - 2016/5

N2 - Weaver syndrome is an overgrowth syndrome characterized by pre- and postnatal overgrowth with distinctive craniofacial appearance. Mutations in the enhancer of zeste homolog 2 (EZH2) gene were found to cause Weaver syndrome, and have been associated with hematologic malignancies, including acute myeloid leukemia (AML). We present the first report of a patient with Weaver syndrome, who developed AML and harbored an EZH2 mutation. The clinical course of the 16-year-old female adolescent patient was complicated by a secondary hemophagocytic lymphohistiocytosis. Genomic DNA was isolated from bone marrow cells at AML diagnosis. Polymerase chain reactions were performed with primers covering all exons of the EZH2 gene. We found a novel heterozygous EZH2 mutation within exon 5 that caused an amino acid change from proline to leucine at position 132 (p.Pro132Leu) within the catalytic D1 domain. Analysis of a remission sample also showed this mutation, indicating a germline mutation. It remains to be elucidated whether EZH2 mutations contribute to disease severity in specific AML cases. © 2016 Wiley Periodicals, Inc.

AB - Weaver syndrome is an overgrowth syndrome characterized by pre- and postnatal overgrowth with distinctive craniofacial appearance. Mutations in the enhancer of zeste homolog 2 (EZH2) gene were found to cause Weaver syndrome, and have been associated with hematologic malignancies, including acute myeloid leukemia (AML). We present the first report of a patient with Weaver syndrome, who developed AML and harbored an EZH2 mutation. The clinical course of the 16-year-old female adolescent patient was complicated by a secondary hemophagocytic lymphohistiocytosis. Genomic DNA was isolated from bone marrow cells at AML diagnosis. Polymerase chain reactions were performed with primers covering all exons of the EZH2 gene. We found a novel heterozygous EZH2 mutation within exon 5 that caused an amino acid change from proline to leucine at position 132 (p.Pro132Leu) within the catalytic D1 domain. Analysis of a remission sample also showed this mutation, indicating a germline mutation. It remains to be elucidated whether EZH2 mutations contribute to disease severity in specific AML cases. © 2016 Wiley Periodicals, Inc.

U2 - 10.1002/ajmg.a.37562

DO - 10.1002/ajmg.a.37562

M3 - SCORING: Journal article

C2 - 26762561

VL - 170

SP - 1274

EP - 1277

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 5

ER -