Isolated Intraocular Rosai-Dorfman Disease.

Ocul Oncol Pathol. 2019 Oct;5(6):418-423

Authors: Fogt F, Rüediger T, Augustin AJ, Frank DM, Rosenwald A, Wellmann A, Lee V

Abstract
Background/Aims: To report a case of Rosai-Dorfman disease (RDD) presenting as a solitary, choroidal mass, initially suspicious for uveal melanoma, in a 72-year-old woman.
Methods: Retrospective case report of a single patient.
Results: A 72-year-old woman presented with sudden vision loss in the right eye. A month prior, visual acuity was 20/40, but she was noted to have a choroidal mass confirmed with B-scan ultrasonography. Patient’s vision deteriorated significantly a month later and a shallow retinal detachment was newly noted. Magnetic resonance imaging was obtained, demonstrating a hyperintense intraocular tumor on TI imaging. Patient underwent enucleation of the right eye for suspicion of a uveal melanoma. Pathology revealed a mixed cellular infiltrate with histiocytes, some exhibiting emperipolesis. Macrophage immunohistochemical stains were positive, while melanocytic markers were negative. A diagnosis of RDD was made. Subsequently, the patient had a negative workup for systemic involvement. A final diagnosis of intraocular RDD without extraocular and systemic involvement was determined.
Conclusion: We describe a rare presentation of RDD as a solitary choroidal mass in an elderly patient with overlapping features of uveal melanoma. Definitive diagnosis could only be made on histology. RDD should be considered in the differential diagnosis of a choroidal lesion in the elderly.

PMID: 31768365 [PubMed]

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nat Med. 2019 Nov 25;:

Authors: Durham BH, Lopez Rodrigo E, Picarsic J, Abramson D, Rotemberg V, De Munck S, Pannecoucke E, Lu SX, Pastore A, Yoshimi A, Mandelker D, Ceyhan-Birsoy O, Ulaner GA, Walsh M, Yabe M, Petrova-Drus K, Arcila ME, Ladanyi M, Solit DB, Berger MF, Hyman DM, Lacouture ME, Erickson C, Saganty R, Ki M, Dunkel IJ, Santa-María López V, Mora J, Haroche J, Emile JF, Decaux O, Geissmann F, Savvides SN, Drilon A, Diamond EL, Abdel-Wahab O

Abstract
Histiocytoses are clonal hematopoietic disorders frequently driven by mutations mapping to the BRAF and MEK1 and MEK2 kinases. Currently, however, the developmental origins of histiocytoses in patients are not well understood, and clinically meaningful therapeutic targets outside of BRAF and MEK are undefined. In this study, we uncovered activating mutations in CSF1R and rearrangements in RET and ALK that conferred dramatic responses to selective inhibition of RET (selpercatinib) and crizotinib, respectively, in patients with histiocytosis.

PMID: 31768065 [PubMed – as supplied by publisher]

Rosai-Dorfman disease with cutaneous plaques and autoimmune haemolytic anemia.

BMJ Case Rep. 2019 Nov 24;12(11):

Authors: Subhadarshani S, Kumar T, Arava S, Gupta S

Abstract
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) is a non-Langerhan cell histiocytosis which primarily involves lymph nodes. Extranodal involvement in the form of cutaneous plaques can occur and can pose a diagnostic challenge because of pleomorphic presentation and histopathological mimics. Rarely, systemic autoimmune involvement may complicate the disease process. We present a 28-year-old woman with slowly evolving scaly erythematous cutaneous plaques and fluctuating lymphadenopathy, associated with autoimmune haemolytic anaemia. The patient responded favourably to oral corticosteroids and acitretin with significant flattening of cutaneous plaques, reduction in size of neck nodes and improvement of anaemia.

PMID: 31767610 [PubMed – in process]

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Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model.

Molecules. 2019 Mar 12;24(5):

Authors: Pergande MR, Cougnoux A, Rathnayake RAC, Porter FD, Cologna SM

Abstract
Niemann-Pick disease, type C1 (NPC1) is a rare, autosomal recessive, lipid storage disorder caused by mutations in NPC1. As a result, there is accumulation of unesterified cholesterol and sphingolipids in the late endosomal/lysosomal system. Clinically, patients can present with splenomegaly and hepatomegaly. In the current study, we analyzed the differential proteome of the spleen in symptomatic Npc1-/- mice to complement previous studies focused on the differential proteome of the liver, and then evaluated biomolecules that may serve as tissue biomarkers. The proteomic analysis revealed altered pathways in NPC1 representing different functional categories including heme synthesis, cellular regulation and phosphoinositide metabolism in both tissues. Differential proteins included several activators of the ubiquitous and critical protein, Akt, a major kinase involved in multiple cellular processes. Evaluation of Akt revealed decreased expression in both the liver and spleen tissues of symptomatic Npc1-/- mice. Upstream regulation analysis also suggested that miR-155 may modulate the differences of known downstream protein targets observed in our dataset. Upon evaluation of miR-155, we observed an increased expression in the liver and decreased expression in the spleen of symptomatic Npc1-/- mice. Here, we propose that miR-155 may be a novel indicator of spleen and liver pathology in NPC1.

PMID: 30870990 [PubMed – indexed for MEDLINE]