Rhabdomyosarcoma Presenting as Bilateral Cervical Lymphadenopathy in an Adult with Aberrant Expression of Cytokeratin and Synaptophysin: A Potentially Serious Diagnostic Pitfall
DOI:
https://doi.org/10.21276/apalm.2950Keywords:
Aberrant antigen expression, cervical lymphadenopathy, cytokeratin, rhabdomyosarcoma, synaptophysinAbstract
Rhabdomyosarcoma (RMS) is the most common soft tissue malignancy in children and adolescents. Its occurrence in patients more than 18 years of age is rare. Subtypes of rhabdomyosarcoma include embryonal RMS, alveolar RMS, pleomorphic RMS and spindle/sclerosing RMS.
Herein, we report the case of a 42-year-old female patient who presented with bilateral cervical lymphadenopathy of two-month duration. Clinical and radiological examination showed no other significant lesions. Fine needle aspiration cytology and biopsy of lymph node showed diffusely arranged atypical round cells. The clinical findings and morphology pointed to a hematolymphoid malignancy. On immunohistochemical examination, the atypical cells were negative for CD45, CD20, CD3, PAX5 and CD30. The cells showed patchy moderate positivity for cytokeratin, focal weak positivity for synaptophysin and were negative for chromogranin, CD56 and TTF1. On further evaluation, patchy strong positivity for desmin, myogenin and myo D1 were noted. Correlating the morphology and immunoprofile, diagnosis of rhabdomyosarcoma was given.
Multiple peripheral lymph node enlargement without an obvious primary lesion is a rare presentation of alveolar RMS, with only a few cases reported in literature. Unusual clinical presentation complicated with aberrant expression of epithelial markers may make the diagnosis of alveolar RMS difficult. This case demonstrates the importance of considering extensive differential diagnosis for neck masses with poorly differentiated morphology.
References
Parham DM. Pathologic classification of rhabdomyosarcomas and correlations with molecular studies. Mod Pathol. 2001; 14:506-14.
Hawkins WG, Hoos A, Antonescu CR, Urist MJ, Leung DH, Gold JS, Woodruff JM, et al. Clinicopathologic analysis of patients with adult rhabdomyosarcoma. Cancer. 2001; 91:794-803.
Parham DM, Barr FG: Classification of rhabdomyosarcoma and its molecular basis. Adv Anat Pathol. 2013, 20:387-397.
Rajwanshi A, Srinivas R, Upasana G. Malignant small round cell tumors. J Cytol. 2009; 26:1-10.
Sultan I, Qaddoumi I, Yaser S, Rodriguez-Galindo C, Ferrari A: Comparing adult and pediatric rhabdomyosarcoma in the surveillance, epidemiology and end results program, 1973 to 2005: an analysis of 2,600 patients. J Clin Oncol. 2009, 27:3391-3397.
Parham DM, Qualman SJ, Teot L, Barr FG, Morotti R, Sorensen PH, Triche TJ; Soft Tissue Sarcoma Committee of the Children’s Oncology Group. Correlation between histology and PAX/FKHR fusion status in alveolar rhabdomyosarcoma: a report from the Children’s Oncology Group. Am J Surg Pathol. 2007; 31:895-901.
Ganesan P,Thulkar S, Rajan A, Bakhshi S. Solid variant of alveolar rhabdomyosarcoma mimicking non-Hodgkin lymphoma: Case report and review of literature. J Pediatr Hematol Oncol 2008; 30:772-4.
Chen L, Shah HO, Lin JH: Alveolar rhabdomyosarcoma with concurrent metastases to bone marrow and lymph nodes simulating acute hematologic malignancy. J Pediatr Hematol Oncol 2004; 26:696-97.
Wang NP, Marx J, McNutt MA, et al. Expression of myogenic regulatory proteins (myogenin and MyoD1) in SCRT of childhood. Am J Surg Pathol 1995; 147:1799-1810.
Morotti RA, Nicol KK, Parham DM, et al. An immunohistochemical algorithm to facilitate diagnosis and subtyping of rhabdomyosarcoma: The Children’s Oncology Group experience. Am J Surg Pathol. 2006; 30:962-68.
Miettinen M, Rapola J. Immunohistochemical spectrum of rhabdomyosarcoma and rhabdomyosarcoma-like tumors. Expression of cytokeratin and the 68-kD neurofilament protein. Am J Surg Pathol 1989; 13:120–132.
Bahrami A, Gown A., Baird G. et al. Aberrant expression of epithelial and neuroendocrine markers in alveolar rhabdomyosarcoma: a potentially serious diagnostic pitfall. Mod Pathol 2008; 21:795-806.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2021 Renu Sukumaran, Anitha Mathews, Nileena Nayak, Jayasree Kattoor
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access at http://opcit.eprints.org/oacitation-biblio.html).
