The described clinical case presents 39-year-old patient with no clinically significant accompanying diseases. Since the beginning of October 2015, the patient has complained of fever, abdominal pain and generalized enlarged lymph nodes. Biopsy of axillary lymph node evidences Rosai-Dorfman-Destombes (RDD) disease. Treatment with corticosteroids has been started but with no clear influence on paraclinical activity and lymphadenomegaly. From the additionally made examinations, clinical laboratory data for malignant histiocytosis are found. According to literary data, in 27% of patients suffering from RDD, it transforms into malignant histiocytosis. The presented clinical case is interesting not only because of the registered clinical laboratory data of malignant histiocytosis but for the unclear diagnostic and prognostic importance of this phenomenon, as well

Gercheva, Liana

Spasova, Snejana

Varbanov, Hinko

Yuzeir, Sheniz

English

Varna Medical University Press: Journals

Scripta Scientifica Medica, 2018;50(2):37-41Medical University of Varna 37CASE REPORTSDIAGNOSTIC CHALLENGES IN ROSAI-DORFMAN-DESTOMBES DISEASE.CASE DESCRIPTION AND LITERATURE REVIEWSheniz Yuzeir1, Hinko Varbanov1, Snejana Spasova2, Liana Gercheva11Clinic of Hematology, St. Marina University Hospital, Varna 2Clinic of General and Clinical Pathology, St. Marina University Hospital,VarnaAddress for correspondence:  Sheniz YuzeirClinic of HematologySt. Marina University Hospital1 Hr. Smirnenski Blvd9000 Varnae-mail: shenizyuzeir@abv.bg Received: March 7, 2017Accepted: June 14, 2018ABSTRACTThe described clinical case presents 39-year-old patient with no clinically significant accompanying dis-eases. Since the beginning of October 2015, the patient has complained of fever, abdominal pain and gener-alized enlarged lymph nodes. Biopsy of axillary lymph node evidences Rosai-Dorfman-Destombes (RDD) disease. Treatment with corticosteroids has been started but with no clear influence on paraclinical activ-ity and lymphadenomegaly. From the additionally made examinations, clinical laboratory data for malig-nant histiocytosis are found. According to literary data, in 27% of patients suffering from RDD, it trans-forms into malignant histiocytosis. The presented clinical case is interesting not only because of the regis-tered clinical laboratory data of malignant histiocytosis but for the unclear diagnostic and prognostic im-portance of this phenomenon, as well.Keywords: Rosai-Dorfman-Destombes disease, sinus histiocytosis with massive lymphadenomegaly, ma-lignant histiocytosisINTRODUCTION Rosai-Dorfman–Destombes (RDD) disease, known as sinus histiocytosis with massive lymph-adenomegaly, was described for the first time by Destombes in 1969 (1). In the same year, Juan Rosai and Ronald Dorfman found another 4 cases of the disease, and later – in 1972, they analyzed another 30 reports and defined it as a nosological entity (2). RDD is a benign, systematic, histioproliferative dis-ease with unknown etiology. It most often presents with massive lymphadenomegaly, fever, and extra-nodal manifestations. The size of the affected lymph nodes varies – from massive and compressing to dis-creet lymphadenomegaly. In 87% of the cases, nod-al involvement was found, and in 20 to 40% – extra-nodal localization (skin, soft tissues, central nervous system, etc.) (3-9). Emperipolesis and positive immunohistochem-ical markers for histiocytes (S100 and CD68) in com-bination with negative CD1 are typical and sufficient for accurate diagnosis to be made (2,8,10).RDD occurs extremely rarely. The calculated frequency in USA is about 100 cases a year (11).The etiology of the disease is unknown and histiocytosis is still considered idiopathic. Some re-38 Scripta Scientifica Medica, 2018;50(2):37-41Medical University of VarnaDiagnostic Challenges in Rosai-Dorfman-Destombes Disease. Case Description and Literature ReviewHematological investigations showed mild-grade anemia (Hb 116 g/L),  leukocytosis (Leu-11.53x109/L) and normal platelet count. The chemis-try panel had no deviations. Tuberculin test and se-rological tests for viral infections including HbsAg /-/, Anti-HCV /-/, Anti-HIV/-/, Anti HSV IgM /-/, Anti HSV IgMG /-/, Anti HSV2 IgM /-/, Anti HSV2 /-/, Anti CMV IgG /-/, Anti CMV IgM /-/, Anti EBV IgM /-/ were negative.From the computed tomography of the tho-rax and abdomen, cervical, axillary, abdominal lymphadenopathy and hepatosplenomegaly were established.Biopsy performed on axillary lymph node with subsequent histological and immunohistochemical examination evidenced a morphological image of si-nus histiocytosis. Fig.1 presents a histological prep-aration from a lymph node with damaged architec-tonics, massive sinusoidal dilation with presence of histiocytes, lymphocytes and plasma cells (10).  Em-peripolesis in the cytoplasm of histiocytes is a classi-cal and pathognomonic finding (2,9,12).Immunohistochemical examination of his-tiocytes in sinus histiocytosis with massive lymph-adenomegaly /SHML/ shows positive marking for CD68, S100, CD163, Ki67 and usually negative for CD1a (Fig. 2).Approximately 2 weeks after diagnosis was made, with a treatment with corticosteroids per-formed, clinical laboratory examinations showed ex-searchers of the disease connect it to an infectious agent. However, the current results are contradicto-ry. Some publications show that viral infections such as Human Herpesvirus 6 (HHV-6), Parvovirus B19, Epstein-Barr virus can be a trigger factor in the etio-pathogenesis (9, 12-14). An expression of the HHV-6 antigen is identified in histiocytes in patients with RDD, while parvovirus B19 is found in lymphocytes, phagocytized by histiocytes (14,15). The disease is most often found in children and adolescents, with morbidity peak about the age of 20. There is no con-vincing evidence of racial, ethnic or socio-economic predisposition. In the literature, there is no consent with respect to the treatment protocol. With most patients, watch-and-wait approach is applied. Progressive disease or cases with symptoms are treated with high-dose ste-roids, surgically, radiotherapy treatment and/or che-motherapy in refractory cases (16). Data from apply-ing high-dose interferon alfa show achieving long-lasting remission (17). Disease development can be feeble, last for years and conclude with spontaneous regression (18).If there is progression, the prognosis is bad. A few cases of progressive development are described, including 17 cases with lethal outcome. Differential diagnosis in RDD is difficult and includes tuberculosis, sarcoidosis, Wegener’s gran-ulomatosis, Gaucher disease, hemophagocytic lym-phohistiocytosis, juvenile xanthogranuloma. From the group of malignant diseases, in terms of differ-ential diagnosis, the following should be taken into account:  acute lymphoblastic leukaemia, Hodgkin disease and Non-Hodgkin lymphoma, metastases from melanoma, carcinoma and histiocytic sarcoma (18-20). CLINICAL CASEWe present a 39-year-old male, with no clini-cally significant pre-existing conditions. At the be-ginning of October 2015 he presented with fever up to 39 °C, significant abdominal pain and general-ized enlarged unpainful lymph nodes. Long-term, outpatient, antibiotic treatment was performed with no significant effect. Physical examination of the pa-tient revealed fever and generalized enlarged lymph nodes (cervical, axillary and inguinal lymphadenop-athy) with size 3/3 cm, moderate hepatomegaly and splenomegaly. Fig. 1. Histological preparation from lymph node with damaged architectonics, massive sinusoidal dilation with presence of histiocytes, lymphocytes and plasma cells -lymphophagocytosis and emperipolesisScripta Scientifica Medica, 2018;50(2):37-41Medical University of Varna 39Sheniz Yuzeir, Hinko Varbanov, Snejana Spasova et al.acerbation: deepening of the anemic syndrome (Hb-78x109/l), increasing leukocytosis (Leu-46.52x109/l) and occurrence of thrombocytopenia (Plt-85x109/l). They persisted, with apparent tendency of exacer-bation of the febrile-intoxication syndrome, gener-alized lymphadenomegaly and hepatosplenomega-ly. Ascites, hypoalbuminemia and peripheral edema became present. The patient’s state was deteriorating progressively. An increased percentage of monocyte population was determined in the peripheral blood and bone marrow (Fig. 3 and Fig. 4). Based on clinical laboratory data, it was sug-gested the transformation of disease into malig-nant histiocytosis should be considered. Treatment was performed according to a protocol R-CHOP but there was no therapeutic response. A few days later, a fatal outcome was registered for the patient.DISCUSSION RDD is a benign disease of histiocytes, which represents real challenge in regard to clinical and pathological diagnosis. In the case described, unde-niable evidence is present for the presence of classi-cal, clinical, morphological and immunohistochem-ical image of sinus histiocytosis. Usually, histiocytes in RDD differ morphologically from those in Lang-erhans cell histiocytosis or in interdigitating dendrit-ic cells. Immunohistochemical examination is suf-ficient in order to differentiate morphologically dif-ficult cases. Unlike Langerhans cell histiocytosis, where mutation BRAFV600E can be found, in RDD – this mutation is not present (21, 22). This fact can be used for a differentiation of both diseases in extreme-ly rare cases where the morphological and immuno-histochemical examinations are uncertain.Fig. 2. Immunohistochemical markers – CD68/+/, S100/+/Fig. 3. Photomicrograph showing a high proportion of monocyte in peripheral blood smear (The monocyte has a pale, greyish-blue vacuolated cytoplasm)Fig. 4. Bone marrow examination (bone marrow aspira-tion). The bone marrow is hypercellular and shows my-eloid preponderance and left shift with increased number of immature monocytic precursors40 Scripta Scientifica Medica, 2018;50(2):37-41Medical University of VarnaDiagnostic Challenges in Rosai-Dorfman-Destombes Disease. Case Description and Literature ReviewIn the literature, there are single cases describ-ing the progressive development or transformation of RDD into a malignant process. Prognostic sig-nificance of this phenomenon is of particular im-portance and calls for adopting an individual ap-proach for therapeutic behavior with the patient. Ac-cording to literary data, the following forms of trans-formation can be discussed: 1) in about 27% of the cases, RDD can transform into a malignant process (Non-Hodgkin lymphoma, acute lymphoblastic leu-kemia); 2) histological changes such as SHML (sinus histiocytosis with massive lymphadenomegaly) are found in the lymph nodes of patients with autoim-mune lymphoproliferative syndrome (ALPS), most often connected with mutations in the gene, which codes the TNFRSF6 Fas antigen. This shows that 1/3 of the cases of SHML are connected with disruption of apoptosis (18, 23).The case reported by us confirms the data spec-ified above. This reminds us that the differential di-agnosis of hematological diseases, depending on clinical manifestation, can include many different possibilities irrespective of the patient‘s age. CONCLUSIONSinus histiocytosis with massive lymphadeno-megaly, also known as Rosai-Dorfman-Destombes disease, usually surprises clinicians. It is interesting due to its rare occurrence in clinical practice, absence of pathognomonic symptoms and unclear evolution.REFERENCES1. Destombes P. adenitis with lipid excess, in chil-dren or young adults, seen in the Antilles and in Mali(4 cases){in French}. Bull Soc Pathol Exot Filiales.1965;58(6):1169-75.2. Rosai J, Dorfman RF.Sinus histiocytosis with mas-sive lymphadenopathy. A newly recognized be-nign clinicopathological entity. Arch Pathol.1969; 87(1):63-70.3. Cooper SL, Jenrette JM. Rosai-Dorfman disease:management of CNS and systemic involve-ment. Clin Adv Hematol Oncol.2012;10(3):199-202.4. Frater JL, Maddox JS, Obadiah JM, Hurley MY. Cu-taneous RosaiDorfman disease: comprehensive re-view of cases reported in the medical literature since 1990 and presentation of an illustrative case. J Cutan Med Surg. 2006;10(6):281-90.5. Kong YY, Kong JC, Shi DR, Lu HF, Zhu XZ, Wang J, et al. Cutaneous Rosai-Dorfman disease: a clini-cal and histopathologic study of 25 cases in China. Am J Surg Pathol. 2007;31(3):341-50.6. McClellan SF, Ainbinder DJ. Orbit-al Rosai-Dorfman disease: a litera-ture review. Orbit. 2013;32(5):341-6. doi: 10.3109/01676830.2013.814689.7. Purav P, Ganapathy K, Mallikarjuna VS, Anna-purneswari S, Kalyanaraman S, Reginald J, et al. Rosai-Dorfman disease of the central nervous system. J Clin Neurosci. 2005;12(6):656-9. doi: 10.1016/j.jocn.2005.06.003.8. Sandoval-Sus JD, Sandoval-Leon AC, Chapman JR, et al. Rosai-Dorfmandisease of the central nervous system: report of 6 cases and review of the litera-ture. Medicine (Baltimore). 2014;93(3):165-75. doi: 10.1097/MD.0000000000000030.9. Zhao M, Li C, Zheng J, Yu J, Sha H, Yan M, et al. Extranodal Rosai-Dorfman disease involving ap-pendix and mesenteric nodes with a protracted course: report of a rare case lacking relationship to IgG4-related disease and review of the literature.Int J Clin Exp Pathol. 2013;6(11):2569-77. 10. Ioachim HL, Medeiros J, eds. Ioachim’s Lymph Node Pathology. 4th ed. Philadelphia: Wolters Klu-wer/Lippincott Williams & Wilkins; 2009.11. Warrier R, Chauhan A, Youlaena J, Bansal S, Crav-er R. Rosai Dorfman disease with central nervous system involvement. Clin Adv Hematol Oncol. 2012;10(3):196-8. 12. Foucar E, Rosai J, Dorfman R. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): review of the entity. Semin Diagn Pathol. 1990;7(1):19-73. 13. Noguchi S, Yatera K, Shimajiri S, Inoue N, Naga-ta S, Nishida C, et al. Intrathoracic Rosai-Dorfman disease with spontaneous remission: a clinical re-port and a review of the literature. Tohoku J Exp Med. 2012;227(3):231-325. 14. Mehraein Y, Wagner M, Remberger K, Füzesi L, Middel P, Kaptur S, et al. Parvovirus B19 detected in Rosai-Dorfman disease in nodal and extranodal manifestations. J Clin Pathol. 2006;59(12):1320-6. doi: 10.1136/jcp.2005.029850.15. Ortonne N, Fillet AM, Kosuge H, et al. Cutane-us Destombes- Rosai- Dorfman disease: absence of Scripta Scientifica Medica, 2018;50(2):37-41Medical University of Varna 41Sheniz Yuzeir, Hinko Varbanov, Snejana Spasova et al.detection of HHV-6 and HHV-8 in skin. J.Cutan Pathol.2002; 29(2): 113-816. Pulsoni A, Anghel G, Falcucci P, Matera R, Pescar-mona E, Ribersani M, et al. Treatment of sinus his-tiocytosis with massive lymphadenopathy (Rosai–Dorfman disease): Report of a case and literature review. Am J Hematol. 2002; 69(1):67-7117. Fong D. Sinus histiocytosis with massive lymph-adenopathy (Rosai–Dorfman disease). Clin Pathol Conf. 200518. Dalia S, Sagatys E, Sokol L, Kubal T.  Rosai–Dor-fman Disease: Tumor Biology, Clinical Fea-tures, Pathology, and Treatment. Cancer Control. 2014;21(4):322-7. doi: 10.1177/107327481402100408. 19. Wimmer DB, Ro JY, Lewis A, Schwartz MR, Ca-plan R, Schwarz P, et al. Extranodal Rosai-Dor-fman disease associated with increased num-bers of immunoglobulin g4 plasma cells involving the colon: case report with literature review. Arch Pathol Lab Med.2013;137(7):999-1004. doi: 10.5858/arpa.2011-0547-CR.20. Liu L, Perry AM, Cao W, Smith LM, Hsi ED, Liu X, et al. Relationship between RosaiDorfman disease and IgG4-related disease: study of 32 cases. Am J Clin Pathol. 2013;140(3):395-402. doi: 10.1309/AJCPFH0SJ6YILXJU21. Zhu F , Zhang JT, Xing XW, Wang DJ, Zhu RY, Zhang Q, et al. Rosai-Dorfman dis-ease :a retrospective analysis of 13 cases. Am J Med Sci. 2013;345(3):200-10. doi: 10.1097/MAJ.0b013e3182553e2d.22. Symss NP, Cugati G, Vasudevan MC, Ramamurthi R, Pande A. Intracranial Rosai Dorfman disease: report of three cases and literature review. Asian J Neurosurg. 2010;5(2):19-30.23. George TI, Ma L, Nagy PL, Natkunam Y, Warn-ke  RA, Dorfman RF, et al. TNFRSF6 (Fas Antigen) Mutations in Patients with Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Dis-ease). Blood. 2004; 104:2389.

Diagnostic challenges in Rosai-Dorfman-Destombes disease (case description and literature review)

https://journals.mu-varna.bg/index.php/ssm/article/download/4418/4817

Diagnostic challenges in Rosai-Dorfman-Destombes disease (case description and literature review)

Abstract

Similar works

Full text

Available Versions

Varna Medical University Press: Journals