Classical and <scp>non‐classical</scp> phenotypes of <scp>Erdheim–Chester</scp> disease: Correlating clinical, radiographic and genotypic findings

Hazim, Antonious; Acosta‐Medina, Aldo A.; Young, Jason R.; Ruan, Gordon; Abeykoon, Jithma A.; Ravindran, Aishwarya; Vassallo, Robert; Ryu, Jay H.; Tobin, W. Oliver; Koster, Matthew J.; Bennani, N. Nora; Rech, Karen L.; Shah, Mithun Vinod; Witzig, Thomas E.; Goyal, Gaurav; Go, Ronald S.

doi:10.1111/bjh.18422

Cited by 6 publications

(8 citation statements)

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“…A recent study of 101 ECD focusing on clinical features and somatic mutations driving ECD in classical ECD (typical osseous involvement) and non-classical ECD (absence of typical osseous involvement) showed that 14% of patients had non-classical ECD. 9 Among these patients, 35% did not have alterations in MAPK-ERK pathway, more than 30% presented hairy kidney, and 14% presented cardiac or cutaneous involvement. 9 Considering these genotypic and phenotypic common points with our cases, we can hypothesize that a part of non-classical ECD could be driven by SLC29A3 mutations or alterations in mTOR pathway.…”

Section: Casementioning

confidence: 93%

“… 9 Among these patients, 35% did not have alterations in MAPK-ERK pathway, more than 30% presented hairy kidney, and 14% presented cardiac or cutaneous involvement. 9 Considering these genotypic and phenotypic common points with our cases, we can hypothesize that a part of non-classical ECD could be driven by SLC29A3 mutations or alterations in mTOR pathway. One patient presented an epidural mass inducing spinal cord compression, which is a rare complication of ECD.…”

Section: Casementioning

confidence: 93%

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H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives

et al. 2023

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Section: Casementioning

confidence: 93%

Section: Casementioning

confidence: 93%

H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives

et al. 2023

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“…However, ECD remains a disease that is difficult to diagnose owing to its diverse manifestations mimicking a multitude of diseases and non‐specific biopsy findings 2–4 . In the last few years, many manifestations have been recognized as classic for ECD, such as bilateral osteosclerosis of knee bones (distal femur, proximal tibia/fibula), perinephric infiltration (hairy kidney), sheathing of aorta (coated aorta), central diabetes insipidus, right atrial pseudotumor and periorbital xanthelasma 5 . Per existing guidelines, these findings in combination with biopsy evidence of foamy histiocytes with or without detectable MAPK/ERK pathway mutations can lead to a diagnosis of ECD 2 .…”

Section: Figurementioning

confidence: 99%

“…5 Per existing guidelines, these findings in combination with biopsy evidence of foamy histiocytes with or without detectable MAPK/ERK pathway mutations can lead to a diagnosis of ECD. 2 Several studies have examined the prevalence of sinus involvement in ECD based on imaging (~50%), 5,6 but a comprehensive description of the characteristic radiographic or clinical features in such instances was largely lacking.…”

mentioning

confidence: 99%

“…[2][3][4] In the last few years, many manifestations have been recognized as classic for ECD, such as bilateral osteosclerosis of knee bones (distal femur, proximal tibia/fibula), perinephric infiltration (hairy kidney), sheathing of aorta (coated aorta), central diabetes insipidus, right atrial pseudotumor and periorbital xanthelasma. 5 Per existing guidelines, these findings in combination with biopsy evidence of foamy histiocytes with or without detectable MAPK/ERK pathway mutations can lead to a diagnosis of ECD. 2 Several studies have examined the prevalence of sinus involvement in ECD based on imaging (~50%), 5,6 but a comprehensive description of the characteristic radiographic or clinical features in such instances was largely lacking.…”

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confidence: 99%

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Paging all ENT specialists: Sinus manifestations of Erdheim–Chester disease

Goyal

2023

Br J Haematol

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The Role of Belantamab Mafodotin, Selinexor, and Melflufen in Multiple Myeloma

McCurdy

Visram

2022

Curr Hematol Malig Rep

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Purpose of Review Multiple myeloma (MM) is a hematologic malignancy of plasma cells that remains incurable with currently available therapies including proteosome inhibitors, immunomodulators, monoclonal antibodies, corticosteroids, and alkylators, in addition to autologous stem cell transplantation in patients who are eligible. Novel therapeutics are therefore required to improve patient outcomes. The goal of this paper is to review the role of three new agents in the MM treatment landscape: belantamab mafodotin, selinexor, and melflufen. Recent Findings All three agents have demonstrated clinical activity in patients with MM. Belamaf is the first FDA-approved anti-BCMA targeted agent, showing single-agent response rates of 60% and higher response rates of 48–100% in combinations. The majority of patients treated with belamaf experience corneal toxicity which remains the main challenge with its use; however, fortunately, the vast majority of patients recover. Selinexor is also FDA approved for the treatment of relapsed MM, with single-agent response rates of 26% and combination rates of 48–65%. Gastrointestinal side effects are common with selinexor use, with roughly 65% of patients experiencing nausea, 50% anorexia, 35% vomiting, and 42% diarrhea, the majority of which are grades 1–2. Both agents have a plethora of ongoing clinical trials with data forthcoming on various combinations with standard backbone agents as well as additional novel treatments. While melflufen showed promising initial data showing single-agent response rates of about 30%, inferior survival outcomes in patients previously treated with ASCT in the phase 3 OCEAN study lead to early termination of the trial and subsequent removal from the US market. Summary Belamaf, selinexor, and melflufen are active agents to treat myeloma. Belamaf and selinexor are current options for the treatment of relapsed multiple myeloma with improved response rates and durability when used in triplet combinations. The optimal timing of use and treatment combinations of both agents in the context of additional immunotherapeutics entering the MM landscape requires further study. Many prospective studies are in development and promise to afford further clarity in the near future.

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Classical and non‐classical phenotypes of Erdheim–Chester disease: Correlating clinical, radiographic and genotypic findings

Cited by 6 publications

References 6 publications

H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives

H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives

Paging all ENT specialists: Sinus manifestations of Erdheim–Chester disease

The Role of Belantamab Mafodotin, Selinexor, and Melflufen in Multiple Myeloma

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