Myelodysplastic syndrome and sweet’s syndrome are associated with a mutation in isocitrate dehydrogenase 1

Rose Snyder; Tiffany Libby; Patricia Raciti; Bijal Amin; Mark Jacobson; Dinesh Rakheja; Kirsten Fleming; Matthias Bartenstein; Changcheng Zhu; Swati Goel; Amit K. Verma; Aditi Shastri

doi:10.21873/anticanres.12462

Myelodysplastic syndrome and sweet’s syndrome are associated with a mutation in isocitrate dehydrogenase 1

Rose Snyder, Tiffany Libby, Patricia Raciti, Bijal Amin, Mark Jacobson, Dinesh Rakheja, Kirsten Fleming, Matthias Bartenstein, Changcheng Zhu, Swati Goel, Amit K. Verma, Aditi Shastri

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Background: Sweet’s syndrome (SS) is a febrile neutrophilic dermatosis that has been clinically linked to hematological malignancies, particularly myelodysplastic syndrome (MDS), in a number of case series. Many epigenetic changes underlying MDS have been identified, such as a mutation in the isocitrate dehydrogenase 1 (IDH1) gene, which causes DNA hypermethylation and alteration of a number of genes that lead to leukemogenesis. However, the pathogenesis of malignancy-associated SS is unknown. Case Report: We present two patients who were diagnosed with SS and concomitant IDH1-mutated MDS. Immunohistochemical staining of their skin lesions showed neutrophils diffusely positive for the IDH1 mutation. Conclusion: These cases demonstrate that IDH1 mutation may be implicated in the pathogenesis of malignancy-associated SS. Future investigation to elucidate this pathway is warranted. Establishing this molecular link can provide an earlier identification of patients with SS who are also at increased risk for developing MDS.

Original language	English (US)
Pages (from-to)	2201-2205
Number of pages	5
Journal	Anticancer Research
Volume	38
Issue number	4
DOIs	https://doi.org/10.21873/anticanres.12462
State	Published - Apr 2018

Keywords

IDH1 mutation.
Myelodysplastic syndrome
Sweet’s syndrome

ASJC Scopus subject areas

Oncology
Cancer Research

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Myelodysplastic syndrome and sweet’s syndrome are associated with a mutation in isocitrate dehydrogenase 1. / Snyder, Rose; Libby, Tiffany; Raciti, Patricia; Amin, Bijal; Jacobson, Mark; Rakheja, Dinesh; Fleming, Kirsten; Bartenstein, Matthias; Zhu, Changcheng ; Goel, Swati ; Verma, Amit K.; Shastri, Aditi.

In: Anticancer Research, Vol. 38, No. 4, 04.2018, p. 2201-2205.

Research output: Contribution to journal › Article › peer-review

Snyder, Rose ; Libby, Tiffany ; Raciti, Patricia ; Amin, Bijal ; Jacobson, Mark ; Rakheja, Dinesh ; Fleming, Kirsten ; Bartenstein, Matthias ; Zhu, Changcheng ; Goel, Swati ; Verma, Amit K. ; Shastri, Aditi. / Myelodysplastic syndrome and sweet’s syndrome are associated with a mutation in isocitrate dehydrogenase 1. In: Anticancer Research. 2018 ; Vol. 38, No. 4. pp. 2201-2205.

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abstract = "Background: Sweet{\textquoteright}s syndrome (SS) is a febrile neutrophilic dermatosis that has been clinically linked to hematological malignancies, particularly myelodysplastic syndrome (MDS), in a number of case series. Many epigenetic changes underlying MDS have been identified, such as a mutation in the isocitrate dehydrogenase 1 (IDH1) gene, which causes DNA hypermethylation and alteration of a number of genes that lead to leukemogenesis. However, the pathogenesis of malignancy-associated SS is unknown. Case Report: We present two patients who were diagnosed with SS and concomitant IDH1-mutated MDS. Immunohistochemical staining of their skin lesions showed neutrophils diffusely positive for the IDH1 mutation. Conclusion: These cases demonstrate that IDH1 mutation may be implicated in the pathogenesis of malignancy-associated SS. Future investigation to elucidate this pathway is warranted. Establishing this molecular link can provide an earlier identification of patients with SS who are also at increased risk for developing MDS.",

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author = "Rose Snyder and Tiffany Libby and Patricia Raciti and Bijal Amin and Mark Jacobson and Dinesh Rakheja and Kirsten Fleming and Matthias Bartenstein and Changcheng Zhu and Swati Goel and Verma, {Amit K.} and Aditi Shastri",

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AB - Background: Sweet’s syndrome (SS) is a febrile neutrophilic dermatosis that has been clinically linked to hematological malignancies, particularly myelodysplastic syndrome (MDS), in a number of case series. Many epigenetic changes underlying MDS have been identified, such as a mutation in the isocitrate dehydrogenase 1 (IDH1) gene, which causes DNA hypermethylation and alteration of a number of genes that lead to leukemogenesis. However, the pathogenesis of malignancy-associated SS is unknown. Case Report: We present two patients who were diagnosed with SS and concomitant IDH1-mutated MDS. Immunohistochemical staining of their skin lesions showed neutrophils diffusely positive for the IDH1 mutation. Conclusion: These cases demonstrate that IDH1 mutation may be implicated in the pathogenesis of malignancy-associated SS. Future investigation to elucidate this pathway is warranted. Establishing this molecular link can provide an earlier identification of patients with SS who are also at increased risk for developing MDS.

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Myelodysplastic syndrome and sweet’s syndrome are associated with a mutation in isocitrate dehydrogenase 1

Abstract

Keywords

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