Journal of Cytology
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 Table of Contents    
CASE REPORT  
Year : 2014  |  Volume : 31  |  Issue : 3  |  Page : 168-170
Lymphadenopathic form of solid variant of alveolar rhabdomyosarcoma: A rare case report


1 Department of Pathology, UCMS and Associated GTB Hospital, New Delhi, India
2 Department of Pathology, LLRM Medical College, Meerut, Uttar Pradesh, India
3 Depatment of Pathology, Subharti Medical College, Meerut, Uttar Pradesh, India

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Date of Web Publication29-Nov-2014
 

   Abstract 

Lymph node enlargement due to metastatic rhabdomyosarcoma, without an obvious primary tumor, is rare. We report a fine-needle aspiration diagnosed and histopathologically confirmed case of solid variant of alveolar rhabdomyosarcoma in a 13-year-old female. She presented with right cervical lymphadenopathy, followed by a diffuse swelling in right forearm 2 months later.

Keywords: Lymphadenopathic form; rhabdomyosarcoma; solid variant

How to cite this article:
Sharma T, Bhargava R, Sharma J, Sharma SP. Lymphadenopathic form of solid variant of alveolar rhabdomyosarcoma: A rare case report. J Cytol 2014;31:168-70

How to cite this URL:
Sharma T, Bhargava R, Sharma J, Sharma SP. Lymphadenopathic form of solid variant of alveolar rhabdomyosarcoma: A rare case report. J Cytol [serial online] 2014 [cited 2020 Jul 13];31:168-70. Available from: http://www.jcytol.org/text.asp?2014/31/3/168/145656



   Introduction Top


Rhabdomyosarcoma (RMS) is one of the most common soft tissue malignancies of childhood and adolescence. RMS is a tumor derived from primitive mesenchyme and exhibiting a profound tendency toward myogenesis. Alveolar RMS not otherwise specified (NOS) has a poor prognosis with a 5 years survival rate of about 53%. It occurs frequently in extremities, perirectal and perineal regions mainly in adults. These tumors are composed of dyscohesive malignant small rounded cells with a tendency to attach to thin fibrous septae. Multinucleated tumor giant cells with eosinophilic cytoplasm may be seen in some cases. Tumor cells may show a thin rim of eosinophilic cytoplasm. Morphologic evidence of rhabdomyoblastic differentiation including strap cells or cells with cross-striations and multinucleate myoblasts may be seen.

In the rare solid variant of alveolar RMS, the tumor cells grow in solid masses of closely aggregated cells with absence of fibrous septa. With wide sampling, areas showing cleft-like spaces or a more classically alveolar pattern can usually be found, facilitating recognition of these tumors as alveolar RMS.

Multiple peripheral lymph node enlargement in the absence of the primary lesion may sometimes be the first manifestation of alveolar RMS. [1] Although documented in the literature, this lymphadenopathic form of RMS is rare.


   Case Report Top


A 13-year-old female presented with multiple swellings in right cervical region for 1-month duration. She also complained of mild pain in right forearm for 1½ months. On physical examination, there were three right cervical lymph nodes of size varying from 1.5 to 2 cm, firm, nontender and mobile. There was no other significant history or clinical findings at time of initial presentation. Routine investigations and radiological investigations were within normal limits.

Fine-needle aspiration (FNA) of cervical lymph nodes was performed. Smears showed dyscohesive round and oval tumor cells with hyperchromatic irregular nuclei and deeply eosinophilic cytoplasm. Pear shaped cells with eccentric nucleus and eosinophilic cytoplasm were also present. Few multinucleated tumor giant cells were also noted along with some lymphoid cells in the background [Figure 1]. A differential diagnosis of RMS metastatic to cervical lymph nodes was considered along with non-Hodgkin lymphoma, Ewing's sarcoma (ES)/primitive neuroectodermal tumor (PNET), epithelioid sarcoma, clear cell sarcoma, desmoplastic round cell tumor, and monophasic synovial sarcoma. Based on clinical presentation and morphological features, a probable diagnosis of RMS was made. No obvious primary was found at time of initial diagnosis.
Figure 1: Smear from right cervical lymph node showing round tumor cells with irregular nuclei and deeply eosinophilic cytoplasm. Lymphoid cells are also seen (MGG, ×200)

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After about 2 months of the appearance of cervical lymphadenopathy, the patient presented with an ill-defined diffuse swelling in the right forearm. The swelling was mildly tender and firm to hard in consistency. Radiograph of forearm revealed a soft tissue lesion, not involving the underlying bone(s).

An excision biopsy was performed of the forearm swelling. Microscopic examination revealed sheets of dyscohesive round and oval tumor cells with high nuclear-cytoplasmic ratio, hperchromatic irregular nuclei and deeply eosinophilic cytoplasm. Several tumor giant cells were also seen along with few areas of necrosis. Occasional abnormal mitosis was also noted. No alveolar pattern or septa were seen in multiple sections examined [Figure 2].
Figure 2: Histology of forearm tumor showing round tumor cells with irregular hyperchromatic nuclei and deeply eosinophilic cytoplasm. Areas of necrosis along with few tumor giant cells are seen (H and E, ×200)

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Immunohistochemical staining was performed for leucocyte common antigen (LCA), cytokeratin, desmin and myogenin. LCA and cytokeratin were negative, whereas there was strong nuclear positivity for desmin and myogenin. Thus, a diagnosis of alveolar RMS, solid variant was made.


   Discussion Top


Childhood RMS has been classified by The International Pediatric Sarcoma Working Classification into prognostically useful histologic categories, including embryonal botryoid, embryonal spindle, embryonal NOS, alveolar NOS or solid variant and undifferentiated sarcoma. [2]

The differential diagnosis of alveolar RMS includes malignant small round cell neoplasms, particularly ES/ PNET, non-Hodgkin lymphoma (particularly B-cell lymphomas), neuroblastoma, desmoplastic small round cell tumor as well as epithelioid sarcoma, poorly differentiated monophasic synovial sarcoma, clear cell sarcoma and extra medullary leukemia.

Ewing's sarcoma is a highly aggressive sarcoma that occurs predominantly in the long bones of the extremities of young adults and adolescents. Smears are highly cellular, have a tigroid background and comprise of large pale cells with vacuolated cytoplasm and small dark cells with scant cytoplasm along with occasional rosette-like structures.

Non-Hodgkin lymphoma comprises monomorphic malignant lymphoid cell population and is LCA positive.

Epithelioid sarcoma is a rare tumor frequently affecting adolescents and young adults, with a predilection for subcutaneous and deep soft tissue of hand and forearm. It often presents as multifocal ulcerated cutaneous nodules. Smears are highly cellular, comprise of cells with abundant eosinophilic cytoplasm, large vesicular nuclei and visible nucleoli. The cells are strongly cytokeratin positive.

Synovial sarcoma frequently affects adolescents and young adults. Smears comprise of two morphologically distinct cell populations that is, epithelial and spindle sarcomatous cells. Poorly differentiated monophasic synovial sarcoma has an aggressive clinical behavior and can mimic a small round blue-cell malignancy. Most cases are positive for epithelial membrane antigen (EMA) and keratin.

Desmplastic round cell tumor is a rare intraabdominal malignancy seen predominantly in male patients between 16 and 18 years, comprise of sheets and clusters of small to intermediate-sized round to oval cells with nuclear molding and fragments of desmoplastic stroma. Cells show positive immunoreactivity for low-molecular-weight cytokeratins, EMA, neuroendocrine markers, and desmin.

Clear cell sarcoma (also known as malignant melanoma of soft tissues) presents as a painful mass in the deep tissues of the extremities. FNA smears show dispersed round, polygonal, or spindle-shaped cells with a prominent nucleolus, binucleate or multinucleated giant cells with intranuclear cytoplasmic pseudoinclusions and clear to pale staining cytoplasm. Most cases are strongly positive for S-100 protein and HMB-45.

A panel of immunohistochemical stains including myogenin, desmin, Myo-D1, cytokeratin, CD99, WT1, synaptophysin, chromogranin, and leukocyte common antigen helps distinguish alveolar RMS from these other entities, but unexpected staining with antigens such as cytokeratin may occur.

Alveolar RMS have chromosomal translocations (2; 13) (q35; q14) or (1; 13) (p36; q14). Approximately 85% alveolar RMS show reverse transcription-polymerase chain reaction for PAX3-and PAX7-FKHR fusion gene products and are recommended for difficult cases. The proper treatment and the exact nature of PAX fusion-negative alveolar RMS are currently debated, so that histologic diagnosis remains the primary determinant for therapeutic protocol assignment.

Alveolar RMS can have a variable clinical presentation and morphology, simulating lymphomas, leukemias and systemic metastatic disease with an unknown primary neoplasm. [3] Most sarcomas metastasize hematogenously, however, alveolar RMS spreads via regional lymph nodes, thus making these tumors amenable to nodal mapping and biopsy. Incidence of lymph node metastases is more common in alveolar RMS compared with the other forms. [4] The percentage of patients with nodal metastases from extremity lesions has been reported as 12%. [5] Lymphadenopathic form of alveolar RMS shows lymph node involvement as first clinical manifestation in absence of recognizable primary tumor. There are a few studies reporting this form of alveolar RMS. [3],[6]

Solid variant of alveolar RMS is a rare variant in which the alveolar pattern is not seen. Although, this can have a strong resemblance with lymphoma, presence of strap cells and multinucleated giant cells with deeply eosinophilic cytoplasm is a characteristic finding in alveolar RMS. Solid variant of alveolar RMS with unknown primary has been reported [7],[8] in few studies.

A common site for occult primary is the perirectal and perineal region. [1] In one of the study, the primary site of solid variant of alveolar RMS was located in lower extremity [7] and in another the primary could not be located. [8] In our case, the primary site was found in the forearm.

Our case attempts to highlight the importance of FNA cytology in early diagnosis of occult RMS. A possibility of metastatic alveolar RMS must be kept in mind in cases presenting with isolated lymphadenopathy. A rare possibility of solid variant cannot be overemphasized to allow timely diagnosis and management.

 
   References Top

1.
Rosenblum MK, Bibao JM, Ang LC. Neuromuscular system: Central nervous system. In: Rosai J, editor. Rosai and Ackerman's Surgical Pathology. 9 th ed., Vol. 2. India: Thomson Press, Mosby, Elsevier; 2004. p. 2301-6.  Back to cited text no. 1
    
2.
Parham DM. Pathologic classification of rhabdomyosarcomas and correlations with molecular studies. Mod Pathol 2001;14:506-14.  Back to cited text no. 2
    
3.
Durán Padilla MA, Rodríguez Martínez HA, Chávez Mercado L, Soto Abraham MV, Ortega González P, Medina Cruz A. A typical biological behavior of alveolar rhabdomyosarcoma in five patients. Rev Invest Clin 1999;51:17-22.  Back to cited text no. 3
    
4.
Sharma A, Bhutoria B, Guha D, Bhattacharya S, Wasim NA. Fine needle aspiration cytology of metastatic alveolar rhabdomyosarcoma. J Cytol 2011;28:121-3.  Back to cited text no. 4
[PUBMED]  Medknow Journal  
5.
Lawrence W Jr, Hays DM, Heyn R, Tefft M, Crist W, Beltangady M, et al. Lymphatic metastases with childhood rhabdomyosarcoma. A report from the Intergroup Rhabdomyosarcoma Study. Cancer 1987;60:910-5.  Back to cited text no. 5
    
6.
Mekni A, Bouraoui S, Boussen H, el May A, Kchir N. Lymphadenopathic form of alveolar rhabdomyosarcoma: A case report. Tunis Med 2004;82:241-4.  Back to cited text no. 6
    
7.
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.  Back to cited text no. 7
    
8.
Aslam MB, Sahasrabudhe N, Kumar SN, Shenjere P, Belloso A, Morar P. Solid variant of alveolar rhabdomyosarcoma in the head and neck region: A case report of a diagnostic dilemma in a head and neck fine needle aspiration clinic. Acta Cytol 2010;54 5 Suppl:849-52.  Back to cited text no. 8
    

Top
Correspondence Address:
Tanya Sharma
Department of Pathology and Laboratory Medicine, AIIMS Bhopal, MP, 462024
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-9371.145656

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    Figures

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