A rare case of Rosai-Dorfman disease presenting as solitary lesion of distal femur: A case report

Cases Series | Volume 8 | Issue 1 | JBST January – June 2022 | Page 07-10 |Ebin Rahman, Subin Sugath, Nita John.

DOI: 10.13107/jbst.2021.v08i01.67

Author: Ebin Rahman [1], Subin Sugath [1], Nita John [1]

[1] Department of Orthopaedic Oncology, Aster Medcity, Kochi, Kerala, India

Address of Correspondence
Dr. Ebin Rahman,
Senior Specialist, Department of Orthopaedic Oncology, Aster Medcity, Kochi, Kerala, India.
E-mail: rahmanebin@gmail.com


Abstract

Introduction: Rosai-dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare histiocytic proliferative disorder of unknown etiology first identified and characterized by Rosai and Dorfman in 1969. The disease is characterized by painless cervical lymphadenopathy, fever, leukocytosis, elevated erythrocyte sedimentation rate, and hypergammaglobulinemia. <500 patients have been reported worldwide. Osseous involvement without lymphadenopathy occurs in <10% of patients and is usually multifocal. Extranodal solitary osseous lesions are just 4% of this subpopulation, no more than 50 such cases have been described in the literature. Here, we report a rare case of RDD presenting as solitary lesion of the distal femur without any evidence of lymphadenopathy and normal laboratory work up.
Case Report: We report the case of a 29-year-old female who presented with pain and swelling of distal femur of 2-month duration without any evidence of lymphadenopathy, with a normal laboratory workup. Radiographical evaluation showed an epiphyseal, osteolytic, and well-defined lesion with cortical break over the medial femoral condyle and soft-tissue extension into the medial patellar recess abutting the medial patellar retinaculum. Whole body positron emission tomography did not show any other sites of abnormal increased uptake. Intralesional extended curettage, bone grafting, bone cementing, and pinning were done. Histologically, the biopsied lesion demonstrated the classic histiocyte proliferation which exhibited emperipolesis (engulfment of lymphocyte or plasma cells by large histiocyte) which are CD-68, S-100 positive, and CD-1a negative on immunohistochemistry. At 2-year follow-up, the patient is symptom free, without any new osseous/extranodal/nodal lesions.
Conclusion: RDD rarely affects bone as a primary or even secondary form of the disease. It has relatively non-specific radiological appearance causing diagnostic challenges and may lead to erroneous diagnosis of a malignancy. Biopsy and histological examination by an experienced pathologist is mandatory for the final diagnosis. The ideal treatment ranges from wait and see policy to surgery, chemotherapy, and radiotherapy.
Keywords: Rosai-Dorfman disease, Extranodal, Osseous, Histiocytosis, Emperipolesis


Reference:
1. Rosai J, Dorfman RF. Sinus histiocytosis with massive lymphadenopathy: A newly recognized benign clinicopathological entity. Arch Pathol 1969;87:63-70.
2. Pulsoni A, Anghel G, Falcucci P, Matera R, Pescarmona E, Ribersani M, et al. Treatment of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): Report of a case and literature review. Am J Hematol 2002;69:67-71.
3. Demicco EG, Rosenberg AE, Bjornsson J, Rybak LD, Unni KK, Nielsen GP. Primary Rosai-Dorfman disease of bone: A clinicopathologic study of 15 cases. Am J Surg Pathol 2010;34:1324-33.
4. Foucar E, Rosai J, Dorfman R. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): Review of the entity. Semin Diagn Pathol 1990;7:19-73.
5. Bhandari A, Patel PR, Patel MP. Extranodal Rosai-Dorfman disease with multiple spinal lesions: Arare presentation. Surg Neurol 2006;65:308-11.
6. George J, Stacy G, Peabody T, Montag A. Rosai-Dorfman disease manifesting as a solitary lesion of the radius in a 41-year-old woman. Skeletal Radiol 2003;32:236-9.
7. Bachmann KR, Dragoescu EA, Foster WC. Extranodal Rosai-Dorfman disease presenting as incidental bone tumor: A case report. Am J Orthop (Belle Mead NJ) 2010;39:E123-5.
8. Abou-Zeid AH, Herwadkar A, du Plessis D, Gnanalingham KK. Isolated extradural Rosai-Dorfman disease of the thoracic spine: A rare cause of spinal cord compression: Case report. Neurosurgery 2010;67:E514-5.
9. Duijsens HM, Vanhoenacker FM, ter Braak BP, Hogendoorn PC, Kroon HM. Primary intraosseous manifestation of Rosai-Dorfman disease: 2 cases and review of literature. JBR-BTR 2014;97:84-9.
10. 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;59:1320-6.
11. Lin J, Lazarus M, Wilbur A. Sinus histiocytosis with massive lymphadenopathy: MRI findings of osseous lesions. Skeletal Radiol 1996;25:279-82.
12. Ruggiero A, Attinà G, Maurizi P, Mulè A, Tarquini E, Barone G, et al. Rosai-Dorfman disease: Two case reports and diagnostic role of fineneedle aspiration cytology. J Pediatr Hematol Oncol 2006;28:103-6.
13. Walker PD, Rosai J, Dorfman RF. The osseous manifestations of sinus histiocytosis with massive lymphadenopathy. Am J Clin Pathol 1981;75:131-9.

 


How to Cite this article: Rahman E, Sugath S, John N | A rare case of Rosai-Dorfman disease presenting as solitary lesion of distal femur: A case report. | Journal of Bone and Soft Tissue Tumors | Jan-Jun 2022; 8(1): 7-10.

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Malignant Transformation Of Solitary Phalangeal Enchondroma To High Grade Chondrosarcoma- A Case Report

Cases Series | Volume 8 | Issue 1 | JBST January – June 2022 | Page 03-06 |Ebin Rahman, Subin Sugath, Nanda Kachare.

DOI: 10.13107/jbst.2021.v08i01.65

Author: Ebin Rahman [1], Subin Sugath [1], Nanda Kachare [2]

[1] Department of Orthopaedic Oncology, Aster Medcity, Kochi, Kerala, India

[2] Department of Pathology, Aster Medcity, Kochi, Kerala, India.

Address of Correspondence
Dr. Ebin Rahman,
Department of Orthopaedic Oncology, Aster Medcity, Kochi, Kerala, India.
E-mail: rahmanebin@gmail.com


Abstract

Introduction: Chondrosarcoma (CS) is a malignant neoplasm of mesenchymal origin characterized by the formation of cartilaginous matrix by neoplastic cells. It may arise as a primary lesion or occur secondarily at the site of a previous benign lesion such as enchondroma. Primary CS is rare in the hand with a frequency of <0.5–3.2% of all CS. Malignant transformation of a benign solitary enchondroma to secondary CS, especially in the hand, is extremely rare. This transformation is seen more often in multiple enchondromatosis than in solitary lesions, but even this event is rare in the hands. Here, we report a case of solitary enchondroma of proximal phalanx of middle finger initially treated with intralesional curettage and bone grafting, later recurring to high grade (Grade 3) CS.
Case Report: We report the case of 44-year-old lady presenting with pain and progressive fusiform swelling of the entire right middle finger of 4 months duration. She had a similar history 5 years back for which she had underwent intralesional curettage and bone graft substitute application. Curetted specimen was reported as enchondroma. Radiographical evaluation showed an expansile, intramedullary, and lytic lesion severe cortical destruction over proximal phalanx of the right middle finger. Magnetic resonance imaging detailed the soft-tissue component. She underwent a core needle biopsy which reported as low-grade CS arising from enchondroma. Resection of middle ray including distal 2/3 of 3rd metacarpal was performed. Excised specimen was reported as high-grade CS (Grade 3) with tumor free margins. At 2-year follow-up, she is symptom free without any local recurrence or distant lesions.
Conclusion: Diagnosis of CS in the hand can pose problems to clinicians and pathologists alike. To definitely set a diagnosis of CS in the hand, comparison of histological and radiological finding is paramount. CS are malignancies resistant to both radiation and chemotherapy. CS of the hand is characterized by local recurrence and very low metastatic potential. Hence, wide excision is the recommended approach.
Keywords: Phalanx, Enchondroma, Chondrosarcoma, High grade, Amputation.


Reference:
1. Rieger H, Neuber M, Joosten U, Grunert J, Brug E, Strobel M. Therapy and prognosis of enchondroma of the hand. Chirurg 2000;71:1152-5.
2. Bertoni F, Bacchini P, Hogendoorn PC. Chondrosarcoma. In: Pathology and Genetics of Tumours of Soft Tissue and Bon. France: IARC Press, Lyon; 2002. p. 247-248..
3. Bovee JV, van der Heul RO, Taminiau AH, Hogendoorn PC. Chondrosarcoma of the phalanx: A locally aggressive lesion with minimal metastatic potential: A report of 35 cases and a review of the literature. Cancer 1999;86:1635-7.
4. Fechner RE, Mills SE. Atlas of Tumour Pathology. Tumours of the Bones and Joints, Fascicle 8, Third Series. Washington, DC: Armed Forces Institute of Pathology; 1993. p. 86-128.
5. Nelson DL, Abdul-Karim FW, Carter JR, Makley JT. Chondrosarcoma of small bones of the hand arising from enchondroma. J Hand Surg 1990;15A:655-9.
6. Dahlin DC, Salvador AH. Chondrosarcomas of bones of the hands and feet-a study of 30 cases. Cancer 1974;34:755-60.
7. Mankin HJ. Chondrosarcoma of digits. Are they really malignant? Cancer 1999;86:1635-7.
8. Nigrisoli M, Ferraro A, De Cristofaro R, Picci P. Chondrosarcoma of the hand and foot. Chir Organi Mov 1990;75:315-23.
9. Unni KK. Chondrosarcoma (primary, secondary, dedifferentiated, and clear cell). In: Dahlin’s Bone Tumors. General Aspects and Data on 11,087 Cases. 5th ed. Philadelphia, PA: Lippincott-Raven; 1996. p. 71-108.
10. Thanigai S, Douraiswami B. Chondrosarcoma of metacarpal – A rare presentation. J Clin Orthop Trauma 2013;4:85-8.
11. Patil S, de Silva MV, Crossan J, Reid R. Chondrosarcoma of small bones of the hand. J Hand Surg Br 2003;28:602-8.
12. Eriksson AI, Schiller A, Mankin HJ. The management of chondrosarcoma of bone. Clin Orthop Relat Res 1980;153:44-66.
13. Dempsey S, Mark CG, Michael HM. Chondrosarcoma: Areview. J Bone Joint Surg 1996;78:644-9.
14. Demireli P, Cavdar DK, Vural S, Ovali Y, Ozalp T. Secondary chondrosarcoma arising from a solitary enchondroma at the index finger of the right hand-a case report. Turk J Pathol 2006;22:53-6.


How to Cite this article: Rahman E, Sugath S, Kachare N. | Malignant transformation of solitary phalangeal enchondroma to high grade chondrosarcoma – A case report. | Journal of Bone and Soft Tissue Tumors | Jan-Jun 2022; 8(1): 3-6.

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