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Annals of Hematology
Published in: Annals of Hematology 12/2020

01-12-2020 | Histiocytosis | Letter to the Editor

Pediatric recurrent Rosai-Dorfman disease with germline heterozygous SLC29A3 and somatic MAP2K1 mutations

Authors: Shruthi Suryaprakash, Amy George, Scott Langenburg, Süreyya Savaşan

Published in: Annals of Hematology | Issue 12/2020

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Excerpt

Dear Editor, …
Literature
1.
Garces S, Medeiros LJ, Patel KP, Li S, Pina-Oviedo S, Li J, Garces JC, Khoury JD, Yin CC (2017) Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai–Dorfman disease. Mod Pathol 30(10):1367–1377CrossRef
2.
Savaşan S, Al-Qanber B, Buck S, Wakeling E, Gadgeel M (2020) Clonal T-cell large granular lymphocyte proliferations in childhood and young adult immune dysregulation conditions. Pediatr Blood Cancer 67(5):e28231CrossRef
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Maric I, Pittaluga S, Dale JK, Niemela JE, Delsol G, Diment J, Rosai J, Raffeld M, Puck JM, Straus SE, Jaffe ES (2005) Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome. Am J Surg Pathol 29(7):903–911CrossRef
4.
Morgan NV, Morris MR, Cangul H et al (2010) Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genetics 6(2):e1000833
5.
Rossbach H-C, Dalence C, Wynn T, Tebbi C (2006) Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness. Pediatr Blood Cancer 47(5):629–632CrossRef
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Sloan J, Johnston J, Manoli I et al (2011) Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet 43(9):883–886CrossRef
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Haroche J, Charlotte F, Arnaud L, von Deimling A, Hélias-Rodzewicz Z, Hervier B, Cohen-Aubart F, Launay D, Lesot A, Mokhtari K, Canioni D, Galmiche L, Rose C, Schmalzing M, Croockewit S, Kambouchner M, Copin MC, Fraitag S, Sahm F, Brousse N, Amoura Z, Donadieu J, Emile JF (2012) High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 120(13):2700–2703CrossRef
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Zeng K, Ohshima K, Liu Y et al (2016) BRAFV600E and MAP2K1 mutations in Langerhans cell histiocytosis occur predominantly in children. Hematol Oncol 35(4):845–851CrossRef
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Melki I, Lambot K, Jonard L, Couloigner V, Quartier P, Neven B, Bader-Meunier B (2013) Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition. Pediatrics. 131(4):e1308–e1313CrossRef
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Chela James, Simon Eaton, Paul Brogan, Khalid Hussain (2011) Pigmented hypertrichosis and insulin dependent diabetes mellitus (PHID) syndrome is associated with chronic inflammation and involves the NF-kB response pathway of inflammation. Presented at Society for Endocrinology BES 2017, London, UK. Endocrine Abstracts 27 P56
Metadata
Title
Pediatric recurrent Rosai-Dorfman disease with germline heterozygous SLC29A3 and somatic MAP2K1 mutations
Authors
Shruthi Suryaprakash
Amy George
Scott Langenburg
Süreyya Savaşan
Publication date
01-12-2020
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 12/2020
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-020-04264-3

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