1. UNUSUAL CASE OF SHOULDER SWELLING
Dr. Sree Kumar. B
Resident
Department of General Surgery

2. CASE REPORT
A 45yrs old female patient from Pune came to OPD with complaints of swelling over her Right shoulder since 1 month.
Initially small in size, gradually progressed to a size of 4 X 3 cms.
No h/o Pain or trauma.
No h/o tingling sensations of extremities or difficulty in limb movements.
No h/o other swellings in the body.

3. On Examination
A well defined ~ 4X3 cms swelling was present over anterior aspect of Right shoulder.
No tenderness & no local rise of temperature
Firm to hard in consistency, and was mobile.
No restriction of shoulder movements or lymphadenopathy
Systemic Examination was within normal limits.

4. INVESTIGATIONS X -ray of right shoulder was normal.
USG was s/o thick walled well defined lesion
?Neurogenic Tumour.
FNAC was s/o giant cell lesion of soft tissues
CLINICAL DIAGNOSIS – SOFT TISSUE TUMOR
Patient underwent,
Wide local excision and specimen sent for Biopsy.
HPE of the biopsy was s/o Epithelioid Sarcoma with IHC
Suggestive of faint Focal Positivity for,
Pancytokeratin,
Vimentin,
Epithelial Membrane Antigen (EMA)
Negative for LCA, CK- 3 and S-100.
HPE report of the surgical margins were free of tumor.

5. FOLLOW UP
Medical oncologist opinion was taken in view of the HPE report, was advised further evaluation and to undergo Radiotherapy.
USG of Abdomen & Pelvis showed no abnormalities.
HRCT Thorax showed no abnormalities.
Patient underwent External Beam Radiation Therapy for the right shoulder.
Patient is being followed up regularly for every 3 months.

6. DISCUSSION
Epithelioid Sarcoma (ES) is a rare, High-Grade Primary soft tissue sarcomas arising from Mesenchymal tissues with Epithelial Differentiation.
It accounts for less than 1% of all soft tissue sarcoma.
It is classified under tumour of UNCERTAIN HISTIOGENESIS.
Incidence is 0.04/million/year with male: female ratio being 1.8:1,with females having better prognosis.
It commonly presents in the limbs, but rarely can be seen in pelvis, vulva, penis.
Epitheloid sarcoma of limbs are divided into two variants -
Distal (71.8%)
Proximal variants (28.2%), where the former is less aggressive of the two.

7. CLINICAL FEATURES
The most common primary site for epithelioid sarcomas is Distal upper extremities followed by Distal lower extremities.
Most tumours present as a firm to hard palpable mass either in deep tissues or in the dermis.
The superficial lesions often ulcerate causing a mistaken diagnosis, where as Deep tumours may mimic Ganglion cysts or Giant cell tumours.
About 13% present with multifocal tumours' and about 13 % present with metastatic disease.

8. GENETICS
The most common genetic mutation is inactivation of SMARCB1 tumor suppressor gene or loss of INI -1 function (80 – 90%).
Vascular Endothelial Growth Factor are over expressed in this tumor which helps in angiogenesis.
c-MET, Tyrosine kinase oncogene, is another biological pathway that is likely linked with the disease progression.

9. PATHOLOGY
It has a tendency to spread by Lymphatics in 22 – 48% unlike other sarcomas.
Metastatic rate of %, of which more common are to lungs.
Local Recurrence rate is reported to be 77%.
MRI is the modality of choice for diagnosis prior to biopsy as it helps in determining anatomic boundaries.
Also helps in differentiating recurrence from postoperative changes after multiple excisions.

10. DIAGNOSIS
Definitive diagnosis is made only on tissue biopsy with immunohistochemical markers. .

11. IMMUNOHISTOCHEMISTRY
Marker
Epithelial Tumor
Mesenchymal Tumor
Pankeratin
Positive
Negative
Vimentin
Positive in Epithelial differentiation
EMA

12. TREATMENT
Wide local excision remains the most recommended treatment modality.
It has also been noted to spread proximally in the same limb, distant to the original tumor (so-called "local metastasis” )
Amputation can be considered if there are Multiple recurrences or if it does not cause significant loss of function (like a finger tip).
However, it does not seem to control "local metastasis“.

13. TREATMENT Role of adjuvants:
Radiation therapy is used for primary and recurrent cases  for limb salvage, with favorable results compared to amputation.
It is also a treatment option when tumors are deemed inoperable or resected margins are positive
Chemotherapy (doxorubicin and ifosfomide) has been used for multifocal, large (>5cm), or metastatic disease. It has not been shown to improve survivorship. 
Newer Modalities – Newer drugs like Anti VEGF and tyrosine kinase inhibitors have been tried in controlling disease progression.

14. PROGNOSTIC FACTORS Good Prognostic Factors :
Younger age at presentation
Female Gender
Smaller size <2cms
Site : Distal extremities
Low mitotic index
5 years survival rate is 68% and 10 years survival rate is 61%.

15. FOLLOW UP
Follow up includes Local Examination and Chest X ray every 3 months for the first 2 to 3 years.
Following 3 years, Chest X ray to be done every 1 year to look for distant metastasis.

16. CONCLUSION
Epithelioid sarcoma is a Rare Malignant soft tissue tumour , with high risk of local recurrence, lymph node involvement and metastasis.
Clinicians must be aware of the presenting feature of this tumour, to Avoid Misdiagnosis.
Tissue diagnosis with Immunohistochemical typing remains the diagnostic investigation of choice.
Close Long term follow up is necessary, as recurrence and metastasis may occur long after definitive treatment.

17. What is unique? Rarity of the Tumor – 0.04/million/year.
Proximal variant is less common. (0.9%)
Swelling having benign features with aggressive progression.
Soft tissue tumor with high rate of lymphatic metastasis.

18. References
1. Enzinger FM. Epitheloid sarcoma. A sarcoma simulating a granuloma or a carcinoma. Cancer (1970) 26(5):1029– doi: / (197011) 26:53.0.CO;2-R
2. Callister, MD et al.:  Epithelioid Sarcoma: results of conservative surgery and radiotherapy.  International Journal of Radiation Oncology-Biology-Physics.  51(2): , Oct 2001
3. J Clin Aesthet Dermatol May; 2(5):
4. Jawad, Muhammad Umar et al. “Prognostic factors for survival in patients with epithelioid sarcoma: 441 cases from the SEER database” Clinical orthopaedics and related research vol. 467,11 (2009):
5. Chbani et al: Epithelioid Sarcoma, A Clinicopathologic and Immunohistochemical Analysis of 106 Cases From the French Sarcoma Group, American Journal of Clinical Pathology;131: ; 2009
6. Sakharpe, Aniket et al. “Epithelioid sarcoma and unclassified sarcoma with epithelioid features: clinicopathological variables, molecular markers, and a new experimental model” oncologist vol. 16,4 (2011):
7. J Surg Res September ; 177(1): 116–122. doi: /j.jss NIH
8. Mendes dos Santos L, Nogueira L, Matsuo CY, Talhari C, Santos M. Proximal-type epithelioid sarcoma - Case report. An Bras Dermatol. 2013;88(3):444-7
9. Noujaim J, Thway K, Bajwa Z, Bajwa A, Maki RG, Jones RL and Keller C (2015) Epithelioid sarcoma: opportunities for biology-driven targeted therapy. Front. Oncol. 5:186. doi: /fonc
10. Nishibaba et al. Journal of Medical Case Reports (2016) 10:295
11. Ezinger and Weiss’s Soft Tissue Tumors- Saunders textbook

19. THANK YOU