Myelodysplastic Syndrome and Sweet’s Syndrome Are Associated with a Mutation in Isocitrate Dehydrogenase 1

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

doi:10.21873/anticanres.12462

Cited by 2 publications

(4 citation statements)

References 21 publications

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“…Mutations in isocitrate dehydrogenase 1 (IDH1) have been identified as a possible connection to SS pathogenesis in malignancy (583). IDH1 catalyzes reactions leading to alterations in histones and DNA, causing differential gene expression (584).…”

Section: Pathogenesismentioning

confidence: 99%

“…IDH1 catalyzes reactions leading to alterations in histones and DNA, causing differential gene expression (584). In myeloproliferative diseases mutations to IDH1 leads to epigenetic chaos as a result of DNA hypermethylation, which leads to abnormal transcription of numerous genes (583). Protein tyrosine phosphatase non-receptor type 6 (PTPN6) plays an essential role in the proliferation and signaling of cells within the immune system (585).…”

Section: Pathogenesismentioning

confidence: 99%

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Insights Into the Pathogenesis of Sweet's Syndrome

2019

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Sweet's syndrome, also known as Acute Febrile Neutrophilic Dermatosis, is a rare inflammatory condition. It is considered to be the prototype disease of neutrophilic dermatoses, and presents with acute onset dermal neutrophilic lesions, leukocytosis, and pyrexia. Several variants have been described both clinically and histopathologically. Classifications include classic Sweet's syndrome, malignancy associated, and drug induced. The cellular and molecular mechanisms involved in Sweet's syndrome have been difficult to elucidate due to the large variety of conditions leading to a common clinical presentation. The exact pathogenesis of Sweet's syndrome is unclear; however, new discoveries have shed light on the role of inflammatory signaling, disease induction, and relationship with malignancy. These findings include an improved understanding of inflammasome activation, malignant transformation into dermal infiltrating neutrophils, and genetic contributions. Continued investigations into effective treatments and targeted therapy will benefit patients and improve our molecular understanding of inflammatory diseases, including Sweet's syndrome.

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Section: Pathogenesismentioning

confidence: 99%

Section: Pathogenesismentioning

confidence: 99%

Insights Into the Pathogenesis of Sweet's Syndrome

2019

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“…Thus, it has been established that this unusual histopathologic variant of the syndrome should be addressed. Histiocytoid Sweet syndrome is histopathologically characterized by an inflammatory infiltrate of cells resembling histiocytes or M2 macrophages [ 61 ], when in fact immunohistochemical studies proved them to be immature neutrophils [ 62 ] or immature nonblast myeloid precursor and myelomonocytic cells [ 33 ].…”

Section: Resultsmentioning

confidence: 99%

“…The pathophysiology of MASS is still not established and there are no guidelines for the treatment of this condition. SS responds to treatment with systemic glucocorticoids and the underlying malignancy benefits from specific treatment [ 62 ]. It is important to rule out other conditions such as histoplasmosis and necrotizing skin infections due to the stark differences in treatment—corticosteroids for Sweet syndrome and surgical debridement for an acute necrotizing infection [ 10 ].…”

Section: Resultsmentioning

confidence: 99%

Sweet Syndrome Associated with Myelodysplastic Syndrome—A Review of a Multidisciplinary Approach

Ferea

Mihai

Bălan

et al. 2023

Life

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Sweet syndrome (SS) is a rare disease described as a febrile neutrophilic dermatosis with acute onset, the pathogenesis of which has not yet been elucidated. The syndrome is characterized by the sudden onset of erythematous infiltrated papules or plaques located on the upper body and is associated with fever, leukocytosis and neutrophilia. The lesions show a dense dermal infiltration with mature neutrophils. The condition is responsive to systemic steroids. The central nervous system, bones, muscles, eyes, ears, mouth, heart, lung, liver, kidneys, intestines, and spleen may be affected by SS as extracutaneous manifestations. More and more cases have been found to be associated with malignancies, particularly myelodysplastic syndrome, and, less frequently, other hematologic malignancies or solid tumors. Approximately 21% of patients with SS have an associated malignancy and up to 80% of MASS cases are associated with hematological diseases, predominantly myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Myelodysplastic syndrome is a clonal disease of the bone marrow characterized by inefficient hematopoiesis, dysplasia of the bone marrow and peripheral cytopenias. Affected patients have a high risk of leukemic transformation. After analyzing later studies and current practical aspects regarding MDS-related SS, we suggest an algorithm for evaluating these patients.

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Myelodysplastic Syndrome and Sweet’s Syndrome Are Associated with a Mutation in Isocitrate Dehydrogenase 1

Cited by 2 publications

References 21 publications

Insights Into the Pathogenesis of Sweet's Syndrome

Insights Into the Pathogenesis of Sweet's Syndrome

Sweet Syndrome Associated with Myelodysplastic Syndrome—A Review of a Multidisciplinary Approach

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