Page 1144 - Williams Hematology ( PDFDrive )
P. 1144
1118 Part VIII: Monocytes and Macrophages Chapter 71: Inflammatory and Malignant Histiocytosis 1119
180. Myra C, Sloper L, Tighe PJ, et al: Treatment of Erdheim-Chester disease with cladrib- 212. Farquhar JW, MacGregor AR, Richmond J: Familial haemophagocytic reticulosis. Br
ine: A rational approach. Br J Ophthalmol 88:844–847, 2004. Med J 2:1561–1564, 1958.
181. Aouba A, Georgin-Lavialle S, Pagnoux C, et al: Rationale and efficacy of interleukin-1 213. Henter JI, Elinder G, Soder O, Ost A: Incidence in Sweden and clinical features of famil-
targeting in Erdheim-Chester disease. Blood 116:4070–4076, 2010. ial hemophagocytic lymphohistiocytosis. Acta Paediatr Scand 80:428–435, 1991.
182. Aubert O, Aouba A, Deshayes S, et al: Favorable radiological outcome of skeletal Erd- 214. Henter JI, Samuelsson-Horne A, Arico M, et al: Treatment of hemophagocytic lympho-
heim-Chester disease involvement with anakinra. Joint Bone Spine 80:206–207, 2013. histiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation.
183. Tran TA, Pariente D, Lecron JC, et al: Treatment of pediatric Erdheim-Chester disease Blood 100:2367–2373, 2002.
with interleukin-1-targeting drugs. Arthritis Rheum 63:4031–4032, 2011. 215. Zhang K, Biroschak J, Glass DN, et al: Macrophage activation syndrome in patients
184. Dehner LP: Juvenile xanthogranulomas in the first two decades of life: A clinicopatho- with systemic juvenile idiopathic arthritis is associated with MUNC13–4 polymor-
logic study of 174 cases with cutaneous and extracutaneous manifestations. Am J Surg phisms. Arthritis Rheum 58:2892–2896, 2008.
Pathol 27:579–593, 2003. 216. Zhang K, Chandrakasan S, Chapman H, et al: Synergistic defects of different molecules
185. Iyengar V, Golumb CA, Schachner L: Neurilemmomatosis, NF2, and juvenile xantho- in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.
granuloma. J Am Acad Dermatol 5 pt 2:831–834, 1998. Blood 124:1331–1334, 2014.
186. Tan HH, Tay YK: Juvenile xanthogranuloma and neurofibromatosis 1. Dermatology 217. Allen CE, Yu X, Kozinetz CA, McClain KL: Highly elevated ferritin levels and the diagno-
197:43–44, 1998. sis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 50:1227–1235, 2008.
187. van Leeuwen RL, Berretty PJ, Knots E, Tan-Go I. Triad of juvenile xanthogranuloma, 218. Parikh SA, Kapoor P, Letendre L, et al: Prognostic factors and outcomes of adults with
von Recklinghausen’s neurofibromatosis and trisomy 21 in a young girl. Clin Exp Der- hemophagocytic lymphohistiocytosis. Mayo Clin Proc 89:484–492, 2014.
matol 21:248–249, 1996. 219. Li F, Li P, Zhang R, et al: Identification of clinical features of lymphoma-associated
188. Gutmann DH, Gurney JG, Shannon KM: Juvenile xanthogranuloma, neurofibromato- hemophagocytic syndrome (LAHS): An analysis of 69 patients with hemophagocytic
sis 1, and juvenile chronic myeloid leukemia. Arch Dermatol 132:1390–1391, 1996. syndrome from a single-center in central region of China. Med Oncol 31:902, 2014.
189. Zvulunov A, Barak Y, Metzker A: Juvenile xanthogranuloma, neurofibromatosis, and 220. Henter JI, Elinder G, Soder O, et al: Hypercytokinemia in familial hemophagocytic
juvenile chronic myelogenous leukemia. World statistical analysis. Arch Dermatol lymphohistiocytosis. Blood 78:2918–2922, 1991.
131:904–908, 1995. 221. Imashuku S, Hibi S, Sako M, et al: Heterogeneity of immune markers in hemophago-
190. Janssen D, Harms D: Juvenile xanthogranuloma in childhood and adolescence: A clini- cytic lymphohistiocytosis: Comparative study of 9 familial and 14 familial inheri-
copathologic study of 129 patients from the kiel pediatric tumor registry. Am J Surg tance-unproved cases. J Pediatr Hematol Oncol 20:207–214, 1998.
Pathol 29:21–28, 2005. 222. Terrell CE, Jordan MB: Perforin deficiency impairs a critical immunoregulatory loop
191. Freyer DR, Kennedy R, Bostrom BC, et al: Juvenile xanthogranuloma: Forms of sys- involving murine CD8(+) T cells and dendritic cells. Blood 121:5184–5191, 2013.
temic disease and their clinical implications. J Pediatr 129:227–237, 1996. 223. Feldmann J, Le DF, Ouachee-Chardin M, et al: Functional consequences of perforin
192. Stover DG, Alapati S, Regueira O, et al: Treatment of juvenile xanthogranuloma. Pediatr gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J
Blood Cancer 51:130–133, 2008. Haematol 117:965–972, 2002.
193. Vijapura CA, Fulbright JM: Use of radiation in treatment of central nervous system 224. Kogawa K, Lee SM, Villanueva J, et al: Perforin expression in cytotoxic lymphocytes
juvenile xanthogranulomatosis. Pediatr Hematol Oncol 29:440–445, 2012. from patients with hemophagocytic lymphohistiocytosis and their family members.
194. Rajendra B, Duncan A, Parslew R, Pizer BL: Successful treatment of central nervous Blood 99:61–66, 2002.
system juvenile xanthogranulomatosis with cladribine. Pediatr Blood Cancer 52:413– 225. Jordan MB, Hildeman D, Kappler J, Marrack P: An animal model of hemophagocytic
415, 2009. lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the
195. Rosai J, Dorfman RF: Sinus histiocytosis with massive lymphadenopathy. A newly rec- disorder. Blood 104:735–743, 2004.
ognized benign clinicopathological entity. Arch Pathol 87:63–70, 1969. 226. de Saint BG, Menasche G, Fischer A: Molecular mechanisms of biogenesis and exocy-
196. McClain KL, Natkunam Y, Swerdlow SH: Atypical cellular disorders. Hematology Am tosis of cytotoxic granules. Nat Rev Immunol 10:568–579, 2010.
Soc Hematol Educ Program 283–296, 2004. 227. zu Stadt U, Rohr J, Seifert W, et al: Familial hemophagocytic lymphohistiocytosis type 5
197. Lauwers GY, Perez-Atayde A, Dorfman RF, Rosai J: The digestive system manifestations (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am
of Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy): Review J Human Genetics 85:482–492, 2009.
of 11 cases. Hum Pathol 31:380–385, 2000. 228. zur Stadt U, Beutel K, Kolberg S, et al: Mutation spectrum in children with primary
198. Deodhare SS, Ang LC, Bilbao JM: Isolated intracranial involvement in Rosai-Dorf- hemophagocytic lymphohistiocytosis: Molecular and functional analyses of PRF1,
man disease: A report of two cases and review of the literature. Arch Pathol Lab Med UNC13D, STX11, and RAB27A. Hum Mutat 27:62–68, 2006.
122:161–165, 1998. 229. Chandrakasan S, Filipovich AH: Hemophagocytic lymphohistiocytosis: Advances in
199. Grabczynska SA, Toh CT, Francis N, et al: Rosai-Dorfman disease complicated by auto- pathophysiology, diagnosis, and treatment. J Pediatr 163:1253–1259, 2013.
immune haemolytic anaemia: Case report and review of a multisystem disease with 230. Marsh RA, Bleesing JJ, Filipovich AH: Using flow cytometry to screen patients for
cutaneous infiltrates. Br J Dermatol 145:323–326, 2001. X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency.
200. Morgan NV, Morris MR, Cangul H, et al: Mutations in SLC29A3, encoding an equili- J Immunol Methods 362:1–9, 2010.
brative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisal- 231. Jordan MB, Allen CE, Weitzman S, et al: How I treat hemophagocytic lymphohistiocy-
abad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet 6:e1000833, tosis. Blood 118:4041–4052, 2011.
2010. 232. Janka GE, Belohradsky BH, Daumling S, et al: Familial lymphohistiocytosis. Haematol
201. Jadus MR, Sekhon S, Barton BE, Wepsic HT: Macrophage colony stimulatory factor-ac- Blood Transfus 27:245–253, 1981.
tivated bone marrow macrophages suppress lymphocytic responses through phagocy- 233. Horne A, Trottestam H, Arico M, et al: Frequency and spectrum of central nervous
tosis: A tentative in vitro model of Rosai-Dorfman disease. J Leukoc Biol 57:936–942, system involvement in 193 children with haemophagocytic lymphohistiocytosis. Br
1995. J Haematol 140:327–335, 2008.
202. Paulli M, Bergamaschi G, Tonon L, et al: Evidence for a polyclonal nature of the cell 234. Henter JI, Horne A, Arico M, et al: HLH-2004: Diagnostic and therapeutic guidelines
infiltrate in sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman dis- for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48:124–131, 2007.
ease). Br J Haematol 91:415–418, 1995. 235. Marsh RA, Bleesing JJ, Filipovich AH: Using flow cytometry to screen patients for
203. Foucar E, Rosai J, Dorfman R: Sinus histiocytosis with massive lymphadenopathy X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency.
(Rosai-Dorfman disease): Review of the entity. Semin Diagn Pathol 7:19–73, 1990. J Immunol Methods 362:1–9, 2010.
204. Chow CP, Ho HK, Chan GC, et al: Congenital Rosai-Dorfman disease presenting with 236. Bryceson YT, Pende D, Maul-Pavicic A, et al: A prospective evaluation of degranula-
anemia, thrombocytopenia, and hepatomegaly. Pediatr Blood Cancer 52:415–417, tion assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 119:
2009. 2754–2763, 2012.
205. Price S, Shaw PA, Seitz A, et al: Natural history of autoimmune lymphoproliferative 237. Gupta A, Weitzman S, Abdelhaleem M: The role of hemophagocytosis in bone marrow
syndrome associated with FAS gene mutations. Blood 123:1989–1999, 2014. aspirates in the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Can-
206. Govender D, Chetty R: Inflammatory pseudotumour and Rosai-Dorfman disease of cer 50:192–194, 2008.
soft tissue: A histological continuum? J Clin Pathol 50:79–81, 1997. 238. Lehmberg K, McClain KL, Janka GE, Allen CE: Determination of an appropriate cut-
207. Pulsoni A, Anghel G, Falcucci P, et al: Treatment of sinus histiocytosis with massive off value for ferritin in the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr
lymphadenopathy (Rosai-Dorfman disease): Report of a case and literature review. Am Blood Cancer 61:2101–2103, 2014.
J Hematol 69:67–71, 2002. 239. Lin TF, Ferlic-Stark LL, Allen CE, et al: Rate of decline of ferritin in patients with hemo-
208. Horneff G, Jurgens H, Hort W, et al: Sinus histiocytosis with massive lymphadenopathy phagocytic lymphohistiocytosis as a prognostic variable for mortality. Pediatr Blood
(Rosai-Dorfman disease): Response to methotrexate and mercaptopurine. Med Pediatr Cancer 56:154–155, 2011.
Oncol 27:187–192, 1996. 240. Janka GE, Lehmberg K: Hemophagocytic lymphohistiocytosis: Pathogenesis and treat-
209. Perry R, Penk J, Kapoor N, Shah A: Vinorelbine and methotrexate for the treatment of ment. Hematology Am Soc Hematol Educ Program 2013:605–611, 2013.
Rosai-Dorfman Disease in children. Pediatr Blood Cancer 200584–85. 241. Ambruso DR, Hays T, Zwartjes WJ, et al: Successful treatment of lymphohistiocytic reticu-
210. Rodriguez-Galindo C, Helton KJ, Sanchez ND, et al: Extranodal Rosai-Dorfman dis- losis with phagocytosis with epipodophyllotoxin VP 16–213. Cancer 45:2516–2520, 1980.
ease in children. J Pediatr Hematol Oncol 26:19–24, 2004. 242. Fischer A, Virelizier JL, Arenzana-Seisdedos F, et al: Treatment of four patients with
211. Stine KC, Westfall C: Sinus histiocytosis with massive lymphadenopathy (SHML) pred- erythrophagocytic lymphohistiocytosis by a combination of epipodophyllotoxin, ste-
nisone resistant but dexamethasone sensitive. Pediatr Blood Cancer 44:92–94, 2005. roids, intrathecal methotrexate, and cranial irradiation. Pediatrics 76:263–268, 1985.
Kaushansky_chapter 71_p1101-1120.indd 1119 9/17/15 3:51 PM

