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Erschienen in: Virchows Archiv 2/2008

01.02.2008 | Case Report

Systemic Erdheim–Chester disease

verfasst von: Brendan Craig Dickson, Vaijayanti Pethe, Catherine Tse-Shing Chung, David John Charles Howarth, Juan Manuel Bilbao, Victor Lodovico Fornasier, Catherine Joanne Streutker, Linda Marilyn Sugar, Bharati Bapat

Erschienen in: Virchows Archiv | Ausgabe 2/2008

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Abstract

Erdheim–Chester disease is a rare xanthomatosis that may present with characteristic radiologic and histologic features. There have been conflicting reports regarding the nature of this process, including whether it represents a reactive or neoplastic lesion. We present the clinical histories, pathologic findings, and an analysis of clonality using the HUMARA assay in two patients diagnosed with Erdheim–Chester disease. One case has previously been documented in the literature. Histologically, both cases demonstrated sheets of foamy xanthomatous histiocytes with widespread infiltration of the viscera. These regions were punctuated by variable amounts of inflammation, including lymphocytes, plasma cells, and occasional Touton-type giant cells. The histiocytes were immunoreactive for CD68 and CD163; they did not stain with S100 or CD1a. One case was found to be monoclonal; however, the second case had extensive DNA degradation; thus, clonality could not be assessed. In addition to contributing an additional report of this rare disease to the literature, we demonstrate the histiocytes to express CD163, thereby further supporting a monocyte/macrophage basis. Moreover, in confirming clonality, our observations lend additional evidence to the view that Erdheim–Chester disease represents a neoplastic process.
Literatur
1.
Zurück zum Zitat Alexander AS, Turner R, Uniate L, Pearcy RG (2005) Xanthoma disseminatum: a case report and literature review. Br J Radiol 78:153–157CrossRefPubMed Alexander AS, Turner R, Uniate L, Pearcy RG (2005) Xanthoma disseminatum: a case report and literature review. Br J Radiol 78:153–157CrossRefPubMed
2.
Zurück zum Zitat Al-Quran S, Reith J, Bradley J, Rimsza L (2002) Erdheim–Chester disease: case report, PCR-based analysis of clonality, and review of literature. Mod Pathol 15:666–672CrossRefPubMed Al-Quran S, Reith J, Bradley J, Rimsza L (2002) Erdheim–Chester disease: case report, PCR-based analysis of clonality, and review of literature. Mod Pathol 15:666–672CrossRefPubMed
3.
Zurück zum Zitat Barnes PJ, Foyle A, Hache KA, Langley RG, Burrell S, Juskevicius R (2005) Erdheim–Chester disease of the breast: a case report and review of the literature. Breast J 11:462–467CrossRefPubMed Barnes PJ, Foyle A, Hache KA, Langley RG, Burrell S, Juskevicius R (2005) Erdheim–Chester disease of the breast: a case report and review of the literature. Breast J 11:462–467CrossRefPubMed
4.
Zurück zum Zitat Boudewijns M, van Dongen JJ, Langerak AW (2007) The human androgen receptor X-chromosome inactivation assay for clonality diagnostics of natural killer cell proliferations. J Mol Diagn 9:337–344CrossRefPubMed Boudewijns M, van Dongen JJ, Langerak AW (2007) The human androgen receptor X-chromosome inactivation assay for clonality diagnostics of natural killer cell proliferations. J Mol Diagn 9:337–344CrossRefPubMed
5.
Zurück zum Zitat Caputo R, Veraldi S, Grimalt R, Gianotti R, Tosti A, Varotti C, de Kaminsky AR (1995) The various clinical patterns of xanthoma disseminatum. Considerations on seven cases and review of the literature. Dermatology 190:19–24PubMedCrossRef Caputo R, Veraldi S, Grimalt R, Gianotti R, Tosti A, Varotti C, de Kaminsky AR (1995) The various clinical patterns of xanthoma disseminatum. Considerations on seven cases and review of the literature. Dermatology 190:19–24PubMedCrossRef
6.
Zurück zum Zitat Chester W (1930) Über lipoidgranulomatose. Virchows Arch Pathol Anat 279:561–602CrossRef Chester W (1930) Über lipoidgranulomatose. Virchows Arch Pathol Anat 279:561–602CrossRef
7.
Zurück zum Zitat Chetritt J, Paradis V, Dargere D, Adle-Biassette H, Maurage CA, Mussini JM, Vital A, Wechsler J, Bedossa P (1999) Chester–Erdheim disease: a neoplastic disorder. Hum Pathol 30:1093–1096CrossRefPubMed Chetritt J, Paradis V, Dargere D, Adle-Biassette H, Maurage CA, Mussini JM, Vital A, Wechsler J, Bedossa P (1999) Chester–Erdheim disease: a neoplastic disorder. Hum Pathol 30:1093–1096CrossRefPubMed
8.
Zurück zum Zitat Cruz AA, de Alencar VM, Falcao MF, Elias J Jr., Chahud F (2006) Association between Erdheim–Chester disease, Hashimoto thyroiditis, and familial thrombocytopenia. Ophthal Plast Reconstr Surg 22:60–62CrossRefPubMed Cruz AA, de Alencar VM, Falcao MF, Elias J Jr., Chahud F (2006) Association between Erdheim–Chester disease, Hashimoto thyroiditis, and familial thrombocytopenia. Ophthal Plast Reconstr Surg 22:60–62CrossRefPubMed
9.
Zurück zum Zitat Curgunlu A, Karter Y, Ozturk A (2003) Erdheim–Chester disease: a rare cause of paraplegia. Eur J Intern Med 14:53–55CrossRefPubMed Curgunlu A, Karter Y, Ozturk A (2003) Erdheim–Chester disease: a rare cause of paraplegia. Eur J Intern Med 14:53–55CrossRefPubMed
10.
Zurück zum Zitat Eble JN, Rosenberg AE, Young RH (1994) Retroperitoneal xanthogranuloma in a patient with Erdheim–Chester disease. Am J Surg Pathol 18:843–848PubMedCrossRef Eble JN, Rosenberg AE, Young RH (1994) Retroperitoneal xanthogranuloma in a patient with Erdheim–Chester disease. Am J Surg Pathol 18:843–848PubMedCrossRef
11.
Zurück zum Zitat Egan AJ, Boardman LA, Tazelaar HD, Swensen SJ, Jett JR, Yousem SA, Myers JL (1999) Erdheim–Chester disease: clinical, radiologic, and histopathologic findings in five patients with interstitial lung disease. Am J Surg Pathol 23:17–26CrossRefPubMed Egan AJ, Boardman LA, Tazelaar HD, Swensen SJ, Jett JR, Yousem SA, Myers JL (1999) Erdheim–Chester disease: clinical, radiologic, and histopathologic findings in five patients with interstitial lung disease. Am J Surg Pathol 23:17–26CrossRefPubMed
12.
Zurück zum Zitat Egeler RM, Pritchard J, Gadner H, D’Angio GJ (1995) An international histiocytic language. Blood 85:2281–2282PubMed Egeler RM, Pritchard J, Gadner H, D’Angio GJ (1995) An international histiocytic language. Blood 85:2281–2282PubMed
13.
Zurück zum Zitat Favara BE, Feller AC, Pauli M, Jaffe ES, Weiss LM, Arico M, Bucsky P, Egeler RM, Elinder G, Gadner H (1997) Contemporary classification of histiocytic disorders. The WHO committee on histiocytic/reticulum cell proliferations. Reclassification working group of the histiocyte society. Med Pediatr Oncol 29:157–166CrossRefPubMed Favara BE, Feller AC, Pauli M, Jaffe ES, Weiss LM, Arico M, Bucsky P, Egeler RM, Elinder G, Gadner H (1997) Contemporary classification of histiocytic disorders. The WHO committee on histiocytic/reticulum cell proliferations. Reclassification working group of the histiocyte society. Med Pediatr Oncol 29:157–166CrossRefPubMed
14.
Zurück zum Zitat Gauthier V, Cauchon R (1958) Retroperitoneal xanthogranuloma: 2 cases. Laval Med 26:316–337PubMed Gauthier V, Cauchon R (1958) Retroperitoneal xanthogranuloma: 2 cases. Laval Med 26:316–337PubMed
15.
Zurück zum Zitat Hisanaga Y, Akaike Y, Kuroda K (2004) Xanthoma disseminatum with large plaques confined to the back, pulmonary involvement and multiple intestinal xanthomas. Dermatology 208:164–166CrossRefPubMed Hisanaga Y, Akaike Y, Kuroda K (2004) Xanthoma disseminatum with large plaques confined to the back, pulmonary involvement and multiple intestinal xanthomas. Dermatology 208:164–166CrossRefPubMed
16.
Zurück zum Zitat Jaffe HL (1972) Lipid (cholesterol) granulomatosis. Metabolic, degenerative and inflammatory diseases of bones and joints. Lea & Fibiger, Philadelphia, pp 535 –541 Jaffe HL (1972) Lipid (cholesterol) granulomatosis. Metabolic, degenerative and inflammatory diseases of bones and joints. Lea & Fibiger, Philadelphia, pp 535 –541
17.
Zurück zum Zitat Jaffe R (2004) Dendritic histiocytoses: an update. Companion meeting: society for hematopathology (USCAP 2004). Vancouver, British Columbia Jaffe R (2004) Dendritic histiocytoses: an update. Companion meeting: society for hematopathology (USCAP 2004). Vancouver, British Columbia
18.
Zurück zum Zitat Khandpur S, Manchanda Y, Sharma VK, Singh MK, Tandon N (2003) Rare association of xanthoma disseminatum with skeletal involvement. Australas J Dermatol 44:190–193CrossRefPubMed Khandpur S, Manchanda Y, Sharma VK, Singh MK, Tandon N (2003) Rare association of xanthoma disseminatum with skeletal involvement. Australas J Dermatol 44:190–193CrossRefPubMed
19.
Zurück zum Zitat Kovacs K, Bilbao JM, Fornasier VL, Horvath E (2004) Pituitary pathology in Erdheim–Chester disease. Endocr Pathol 15:159–166CrossRefPubMed Kovacs K, Bilbao JM, Fornasier VL, Horvath E (2004) Pituitary pathology in Erdheim–Chester disease. Endocr Pathol 15:159–166CrossRefPubMed
20.
Zurück zum Zitat Majno G, Joris I (2004) Cells, tissues, and disease: principles of general pathology, 2nd edn. Oxford University Press, New York, p 1040 Majno G, Joris I (2004) Cells, tissues, and disease: principles of general pathology, 2nd edn. Oxford University Press, New York, p 1040
21.
Zurück zum Zitat Oberling C (1935) Retroperitoneal xanthogranuloma. Am J Cancer 23:477–489 Oberling C (1935) Retroperitoneal xanthogranuloma. Am J Cancer 23:477–489
22.
Zurück zum Zitat QIAGEN (2003) QIAamp DNA Mini Kit and QIAamp DNA Blood Mini Kit Handbook QIAGEN (2003) QIAamp DNA Mini Kit and QIAamp DNA Blood Mini Kit Handbook
23.
Zurück zum Zitat Rush WL, Andriko JA, Galateau-Salle F, Brambilla E, Brambilla C, Ziany-bey I, Rosado-de-Christenson ML, Travis WD (2000) Pulmonary pathology of Erdheim–Chester disease. Mod Pathol 13:747–754CrossRefPubMed Rush WL, Andriko JA, Galateau-Salle F, Brambilla E, Brambilla C, Ziany-bey I, Rosado-de-Christenson ML, Travis WD (2000) Pulmonary pathology of Erdheim–Chester disease. Mod Pathol 13:747–754CrossRefPubMed
24.
Zurück zum Zitat Simpson FG, Robinson PJ, Hardy GJ, Losowsky MS (1979) Erdheim–Chester disease associated with retroperitoneal xanthogranuloma. Br J Radiol 52:232–235PubMedCrossRef Simpson FG, Robinson PJ, Hardy GJ, Losowsky MS (1979) Erdheim–Chester disease associated with retroperitoneal xanthogranuloma. Br J Radiol 52:232–235PubMedCrossRef
25.
Zurück zum Zitat Sivak-Callcott JA, Lim WK, Seah LL, Oestreicher J, Rossman D, Nijhawan N, Rootman J, White V, Williams HJ, Chang WW, DiBartolomeo A, Howarth D (2005) Xanthogranulomatous disease in the lacrimal gland. Br J Ophthalmol 89:1375–1377CrossRefPubMed Sivak-Callcott JA, Lim WK, Seah LL, Oestreicher J, Rossman D, Nijhawan N, Rootman J, White V, Williams HJ, Chang WW, DiBartolomeo A, Howarth D (2005) Xanthogranulomatous disease in the lacrimal gland. Br J Ophthalmol 89:1375–1377CrossRefPubMed
26.
Zurück zum Zitat Sorensen EW (1964) Hyperlipidemia. A report of an unusual case complicated by bone-lesions, macrocytic anaemia and leukemoid bone marrow. Acta Med Scand 175:207–214PubMedCrossRef Sorensen EW (1964) Hyperlipidemia. A report of an unusual case complicated by bone-lesions, macrocytic anaemia and leukemoid bone marrow. Acta Med Scand 175:207–214PubMedCrossRef
27.
Zurück zum Zitat Vencio EF, Jenkins RB, Schiller JL, Huynh TV, Wenger DD, Inwards CY, Oliveira AM (2007) Clonal cytogenetic abnormalities in Erdheim–Chester disease. Am J Surg Pathol 31:319–321CrossRefPubMed Vencio EF, Jenkins RB, Schiller JL, Huynh TV, Wenger DD, Inwards CY, Oliveira AM (2007) Clonal cytogenetic abnormalities in Erdheim–Chester disease. Am J Surg Pathol 31:319–321CrossRefPubMed
28.
Zurück zum Zitat Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, Wechsler J, Brun B, Remy M, Wallaert B, Petit H, Grimaldi A, Wechsler B, Godeau P (1996) Erdheim–Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore) 75:157–169CrossRef Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, Wechsler J, Brun B, Remy M, Wallaert B, Petit H, Grimaldi A, Wechsler B, Godeau P (1996) Erdheim–Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore) 75:157–169CrossRef
29.
Zurück zum Zitat Vinh TN, Sweet DE (2002) Erdheim–Chester disease. In: Fletcher CDM, Unni KK, Mertens F (eds) Pathology and genetics of tumours of soft tissue and bone. IARC, Lyon, p 347 Vinh TN, Sweet DE (2002) Erdheim–Chester disease. In: Fletcher CDM, Unni KK, Mertens F (eds) Pathology and genetics of tumours of soft tissue and bone. IARC, Lyon, p 347
30.
Zurück zum Zitat Vos JA, Abbondanzo SL, Barekman CL, Andriko JW, Miettinen M, Aguilera NS (2005) Histiocytic sarcoma: a study of five cases including the histiocyte marker CD163. Mod Pathol 18:693–704CrossRefPubMed Vos JA, Abbondanzo SL, Barekman CL, Andriko JW, Miettinen M, Aguilera NS (2005) Histiocytic sarcoma: a study of five cases including the histiocyte marker CD163. Mod Pathol 18:693–704CrossRefPubMed
31.
Zurück zum Zitat Wang L, Zhu H (2006) Clonal analysis of palmar fibromatosis: a study whether palmar fibromatosis is a real tumor. J Transl Med 4:21CrossRefPubMed Wang L, Zhu H (2006) Clonal analysis of palmar fibromatosis: a study whether palmar fibromatosis is a real tumor. J Transl Med 4:21CrossRefPubMed
32.
Zurück zum Zitat West RB, Rubin BP, Miller MA, Subramanian S, Kaygusuz G, Montgomery K, Zhu S, Marinelli RJ, De Luca A, Downs-Kelly E, Goldblum JR, Corless CL, Brown PO, Gilks CB, Nielsen TO, Huntsman D, van de Rijn M (2006) A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells. Proc Natl Acad Sci U S A 103:690–695CrossRefPubMed West RB, Rubin BP, Miller MA, Subramanian S, Kaygusuz G, Montgomery K, Zhu S, Marinelli RJ, De Luca A, Downs-Kelly E, Goldblum JR, Corless CL, Brown PO, Gilks CB, Nielsen TO, Huntsman D, van de Rijn M (2006) A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells. Proc Natl Acad Sci U S A 103:690–695CrossRefPubMed
33.
Zurück zum Zitat Willman CL, Busque L, Griffith BB, Favara BE, McClain KL, Duncan MH, Gilliland DG (1994) Langerhans’-cell histiocytosis (histiocytosis X)—a clonal proliferative disease. N Engl J Med 331:154–160CrossRefPubMed Willman CL, Busque L, Griffith BB, Favara BE, McClain KL, Duncan MH, Gilliland DG (1994) Langerhans’-cell histiocytosis (histiocytosis X)—a clonal proliferative disease. N Engl J Med 331:154–160CrossRefPubMed
Metadaten
Titel
Systemic Erdheim–Chester disease
verfasst von
Brendan Craig Dickson
Vaijayanti Pethe
Catherine Tse-Shing Chung
David John Charles Howarth
Juan Manuel Bilbao
Victor Lodovico Fornasier
Catherine Joanne Streutker
Linda Marilyn Sugar
Bharati Bapat
Publikationsdatum
01.02.2008
Verlag
Springer-Verlag
Erschienen in
Virchows Archiv / Ausgabe 2/2008
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-007-0538-9

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