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. 2024 Jun 20;14(1):101.
doi: 10.1038/s41408-024-01083-x.

Clinical features and outcomes in primary nervous system histiocytic neoplasms

Nabeela Nathoo  1 , Joon H Uhm  1 , Alyx B Porter  2 , Julie Hammack  3 , Kurt A Jaeckle  3 , Maciej M Mrugala  2 , Brian A Crum  1 , Eoin P Flanagan  1   4   5 , Sean J Pittock  1   4   5 , Gaurav Goyal  6 , Jason R Young  7 , Matthew J Koster  8 , Robert Vassallo  9 , Jay H Ryu  9 , Caroline J Davidge-Pitts  10 , Corrie Bach  11 , Aishwarya Ravindran  12 , Julio C Sartori Valinotti  13 , N Nora Bennani  14 , Jithma P Abeykoon  14 , Mithun V Shah  14 , C Christopher Hook  14 , Karen L Rech  15 , Ronald S Go  14 , W Oliver Tobin  16   17 ; Mayo Clinic-University of Alabama at Birmingham Histiocytosis Working Group
Collaborators, Affiliations

Clinical features and outcomes in primary nervous system histiocytic neoplasms

Nabeela Nathoo et al. Blood Cancer J. .
No abstract available

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Conflict of interest statement

N. Nathoo, J. Uhm, A. Porter, J. Hammack, K. Jaeckle, M. Mrugala, B. Crum, J. Abeykoon, C.C. Hook, J.R. Young, J.H. Ryu, C.J. Davidge-Pitts, A. Ravindran, K.L. Rech, and R.S. Go declare that they have no financial interests. E.P. Flanagan has served on Alexion, Genentech, Horizon Therapeutics, and UCB advisory boards. He has received research support from UCB. He has received speaker honoraria from Pharmacy Times. He received royalties from UpToDate. Dr Flanagan was a site primary investigator in a randomized clinical trial on Inebilizumab in neuromyelitis optica spectrum disorder run by Medimmune/Viela-Bio/Horizon Therapeutics. Dr Flanagan has received funding from the NIH (R01NS113828). Dr Flanagan is a member of the medical advisory board of the MOG project. Dr Flanagan is an editorial board member of the Journal of the Neurological Sciences and Neuroimmunology Reports. A patent has been submitted on DACH1-IgG as a biomarker of paraneoplastic autoimmunity. S.J. Pittock reports grants, personal fees, and non-financial support from Alexion Pharmaceuticals; grants, personal fees, and non-financial support from MedImmune /Viela Bio; and personal fees for consulting from Genentech, Roche, UCB, and Astellas. He has two patents issued (8889102; application 12-678350; Neuromyelitis Optica Autoantibodies as a Marker for Neoplasia; and 9891219B2; application 12-573942; Methods for Treating Neuromyelitis Optica [NMO] by Administration of Eculizumab to an individual that is Aquaporin-4 [AQP4]-IgG Autoantibody positive). Sean J. Pittock also has patents pending for IgGs to the following proteins as biomarkers of autoimmune neurological disorders: septin-5, kelch-like protein 11, GFAP, PDE10A, and MAP1B. J.C. Sartori Valinotti had received consulting fees from Novartis Pharmaceuticals Corporation. G. Goyal is on the advisory board of Opna Bio LLC and has received royalties from UpToDate; he has also received research funding from Seagen, Sutro Biopharma, and Viracta Therapeutics. M.J. Koster has received institutional grant funding from Genentech. R. Vassallo has received research grants from Pfizer, Bristol Myers Squibb, and Sun Pharma. N.N. Bennani serves as an unpaid Advisory Board member of Daichii Sankyo, Inc.; Kyowa Kirin; Vividion Therapeutics, Kymera, Secura Bio; Affimed, GmbH; Astellas Pharma, and Acrotech Biopharma, LLC. M.V. Shah receives research support from AbbVie, MRKR Therapeutics, Celgene, and Astellas. W.O. Tobin has received grants from the National Institutes of Health, Mallinckrodt Inc., speaking fees from NeurologyLive, DKBMed, and book royalties from the publication of Mayo Clinic Cases in Neuroimmunology (Mayo Clinic Scientific Press) 2022.

Figures

Fig. 1
Fig. 1. Genetic mutations and MRI findings in different types of primary histiocytic neoplasms.
i Genetic mutations in patients with primary nervous system histiocytic neoplasms. The flow chart illustrates the number of patients in the series tested for genetic mutations and the associated pathways activated by these mutations. ii MRI findings in Langerhans cell histiocytosis (LCH). a Coronal brain MRIs of a man in his 20s with LCH presenting with diabetes insipidus. T2-weighted MRI (left image) and T1-weighted post-gadolinium MRI (right image), showing enhancement of infundibulum (yellow arrow). b Sagittal brain MRIs of a man in his 20s with LCH presenting with fatigue, weight gain, hypogonadism, and diabetes insipidus. T1-weighted pre-gadolinium MRI (left image) and T1-weighted post-gadolinium MRI (right image) demonstrate an ovoid heterogeneously enhancing lesion involving the hypothalamus (red arrow). iii MRI findings in Erdheim-Chester disease (ECD). a Axial brain MRIs of a woman in her 50s with ECD (BRAF N486_P490del). T2-weighted MRI (left image) and T1-weighted post-gadolinium MRI (right image) showing diffuse heterogenous enhancement of an enlarged pons. This was initially diagnosed as diffuse intrinsic pontine glioma. b Axial brain MRIs of a woman in her 30s with ECD (BRAF V600E+). T2-weighted MRI (left image) and T1-weighted post-gadolinium MRI (right image) shows an enhancing mass involving the left middle cerebellar peduncle and left cerebellar hemisphere with mass effect onto the 4th ventricle. c Sagittal spinal cord MRIs of a woman in her 30s with ECD (BRAF V600E+). T2-weighted MRI (left image) and T1-weighted post-gadolinium MRI (right image) show an enhancing intramedullary expansile mass at T12-L1 involving the conus (yellow arrows). iv MRI findings in Rosai-Dorfman disease (RDD). A woman in her 40s presented with progressive right leg weakness and imbalance and focal onset seizure with impaired awareness. Axial brain FLAIR MRI (left image) and T1-weighted post-gadolinium MRI (right image) demonstrate an extra-axial homogeneously enhancing mass with mass effect in the left frontal lobe. v MRI findings in ECD associated with CSF1R mutation. a Lumbar spine MRIs of a woman in her 20s presenting with progressive left leg weakness found to have ECD associated with CSF1R mutation. Sagittal lumbar spine T1-weighted post-gadolinium MRI (top left image) shows multiple enhancing nodules involving the cauda equina nerve roots (red arrows) with leptomeningeal enhancement of the lower thoracic cord and conus (yellow box). Axial lumbar spine T1-weighted post-gadolinium MRI (bottom left image) shows enhancing nodules (red arrows). b Lumbar spine MRIs of a woman in her 20s presenting with bilateral lower extremity numbness, gait imbalance, and neurogenic bladder and bowel, found to have ECD associated with CSF1R mutation. Sagittal lumbar spine T1-weighted post-gadolinium MRI (top right image) shows leptomeningeal enhancement of the lower thoracic cord and conus (yellow box). Axial lumbar spine T1-weighted post-gadolinium MRI (bottom right image) shows an enhancing cauda equina nerve root (red arrow).
See this image and copyright information in PMC

References

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