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CASE REPORT  
Year : 2021  |  Volume : 64  |  Issue : 5  |  Page : 136-139
Primary Ewings sarcoma in liver - A rare case report with review of literature


1 Department of Pathology, BMCHRC, Jaipur, Rajasthan, India
2 Department of Surgical Oncology, BMCHRC, Jaipur, Rajasthan, India

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Date of Submission11-Apr-2019
Date of Decision23-Jul-2019
Date of Acceptance29-Aug-2019
Date of Web Publication7-Jun-2021
 

   Abstract 


Ewing's sarcoma family of tumours include both peripheral primitive neuroectodermal tumour (PNET) and Ewing's sarcoma including both intraosseous and extra osseous sites. Rarest of all is the involvement of liver as primary site, of which only 4 case reports have been published. We report a very rare case of 4 year old male child with primary Ewing's Sarcoma in the liver along with review of literature. The child presented with pain abdomen and low grade fever and hepatomegaly. On putting extensive IHC panel on liver SOL biopsy the small round cells were positive for FLI-1 & CD99 & were immunonegative for OCH, LCA, AFP, WT1, NSE, MYOGENIN, B-catenin & glypican 3. The histopathological and immunohistochemical profile was suggestive of Ewing's Sarcoma. To our knowledge, this is the fifth reported case of Ewing's Sarcoma occurring in liver as primary & first case to be present in a young boy of 4 years age.

Keywords: Ewings, FLI 1, liver, PNET

How to cite this article:
Sharma A, Sethi N, Saini S, Pandia K, Jangir R. Primary Ewings sarcoma in liver - A rare case report with review of literature. Indian J Pathol Microbiol 2021;64, Suppl S1:136-9

How to cite this URL:
Sharma A, Sethi N, Saini S, Pandia K, Jangir R. Primary Ewings sarcoma in liver - A rare case report with review of literature. Indian J Pathol Microbiol [serial online] 2021 [cited 2021 Oct 16];64, Suppl S1:136-9. Available from: https://www.ijpmonline.org/text.asp?2021/64/5/136/317909





   Introduction Top


Ewing's sarcoma family of tumors include both peripheral primitive neuroectodermal tumor (PNET) and Ewing's sarcoma that affects both intraosseous and extraosseous sites. They primarily arise in bones but are extraosseous in only about 6% of cases. Common extra osseous site of involvement are deep soft tissues of extremities, retro peritoneum, and chest wall. Rarely do they involve kidney, uterus, and GIT. Rarest of all is the involvement of liver as primary site, of which only four case reports have been published.

We report a very rare case of 4-year-old male child with primary Ewing's Sarcoma in the liver along with review of literature.


   Case Report Top


A 4-year-old child presented with pain abdomen and low grade fever. There was no history of weight loss, but there was loss of appetite. His physical examination showed moderate hepatomegaly and tenderness. He was admitted for routine investigation in which his liver enzymes were markedly raised (SGOT 2417.80 and SGPT 2914.70 IU/mL) with negative Hepatitis B surface antigen and antibody and normal levels of serum tumor markers AFP and CEA.

WBC count was mildly raised. Bone marrow aspiration and bone marrow biopsy examination was normal.

USG abdomen revealed a large heterogeneously hypo echoic lesion in liver with exophytic lobulated cystic component with internal septations in left lobe measuring 10.2 × 7 × 6.2 cm. Mild ascitic fluid was also noted.

CECT abdomen revealed a mass of size 110 × 100 × 60 mm, abutting left lobe of liver with likely loss of fat planes. Lesion showed areas of necrosis and calcification.

Ultrasound-guided FNAC showed presence of malignant round cells and a provisional diagnosis of hepatoblastoma was made. But definite diagnosis was deffered to biopsy and IHC. On putting extensive IHC panel on liver SOL biopsy, the small round cells [Figure 1] were positive for FLI-1 [Figure 2] and CD99 [Figure 3] and were immunonegative for OCH, LCA, AFP, WT 1, NSE, MYOGENIN, B-catenin, and glypican 3. The immunohistochemical profile was suggestive of Ewings Sarcoma. Following this, further investigations including bone scan and PET scan were done to rule out any other site of involvement.
Figure 1: H/E 400×- Round cell tumour

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Figure 2: FLI-1 400×- Nuclear positivity of FLI -1 in tumour cells

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Figure 3: CD99 400× - Membranous positivity of CD99 in tumour cells

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Then patient was given 8 cycles of chemotherapy (CT) Vincristine, Etoposide, and Ifosfomide.

During chemotherapy the lesion decreased in size which was detected in serial USG examination. Also, liver enzymes levels were decreased. Patient responded to chemotherapy as per CT findings.

After the therapy, patient underwent left hepatectomy and specimen was sent for HPE. Majority of tumor mass was hyalinized and necrosed with only few area showing viable small round tumor cells. Immunohistochemistry was repeated on resected specimen who showed same profile.

Postsurgery two cycles of CT - Vincristine, Etoposide, and Doxorubicine were given. Patient responded to treatment well. The timeline of patient is being incorporated in flowchart [Figure 4].
Figure 4: Flow chart of timeline of patient

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   Discussion Top


Literature was extensively reviewed; we could find only four published cases of Ewings sarcoma primarily involving liver. Because of rarity of this entity, little information is being available regarding its behavior.

Mani et al. reported one case in 2010 of a 20-year-old Indian girl who presented with diffuse hepatomegaly without any mass lesion and with slightly raised liver enzymes.[1]

Cambruzzi et al. in 2011 reported a case of an 18-year-old African male having solid hepatic mass lesion.[2]

Two cases reported by Ozaki et al. in 2015[3] and Ates et al. in 2016[4] had multiloculated cystic mass lesions in liver. Both the cases were female and were between age group 20–30 years. As per literature, this is the first case of primary liver Ewings sarcoma at young age of 4 years. Due to young age, various differential diagnosis of small round cell tumors are to be kept in mind involving hepatoblastoma (small cell undifferentiated type), embryonal rhabdomyosarcoma, neuroblastoma, and lymphoblastic lymphoma.

IHC is the only tool to arrive at a conclusive diagnosis in such cases. To rule out small cell undifferentiated type of hepatoblastoma is very difficult as the tumor cells are negative for hepatic markers like AFP, OCH, and Gypican3 and Arginase.

Embryonal rhabdomyosarcoma show immunoreactivity for Myogenin and Myo D1, lymphoblastic lymphoma is also positive for CD99, which is misleading until they are proven with LCA. Neuroblastoma shows NSE, CD56, and Synaptophysin positivity.

The translocation t (11, 22) (q24; q12) is specific for Ewings Sarcoma resulting in EWS/FLI-1 fusion gene >90% of cases. This fusion gene expresses CD99 antigen (MIC-2) and FLI-1. FLI-1 antibody is very sensitive for Ewing's sarcoma, but some lymphoblastic lymphomas are also known to be positive for FLI-1 protein; however, they will be LCA immunoreactive.[5] Rare case of DSRCT,[5] Melanoma,[6] and Merkel cell carcinoma[7] show variable positivity for FLI-1 protein along with vascular tumors.

Liver involvement is usually seen as metastasis for other primary sites in Ewings sarcoma; however, liver as primary site is extremely rare. Currently, extraosseous Ewings sarcoma receives identical therapy as intraosseous Ewing's sarcoma. Thus, suggested IHC panel for round cell tumours of liver in young patient include B-catenin, LCA, CD 30, EMA, Synaptophysin, CD 99 and FLI1.

The standard treatment for Ewing's sarcoma is multimodal involving systemic chemotherapy with surgery and/or radiotherapy.[8]

Chemotherapy include VAC/IE regimen.

Survival of Ewing's sarcoma patients depends on multiple prognostic factors such as age, metastasis at the time of diagnosis, tumor size, site, and histological response to chemotherapy.[9]

Also, genetic transcription of fusion gene EWS/FLI-1 has good prognosis than other fusion transcripts.[10]

EWS/PNET group of tumors are treated by different chemotherapy regimen in comparison of other round cell tumors. This group of tumor responds to chemotherapy very well and their response to therapy can be assessed in NACT cases by percentage of necrosis which has prognostic significance.

Many cases have been reported of Ewing's sarcoma involving rare extra osseous sites which have being incorporated in [Table 1].[11],[22]
Table 1: Literature review EWS at rare extraosseous sites

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   Conclusion Top


To the best of our knowledge and as per published literature, this is the fifth case of Ewings sarcoma occurring in liver as primary and first case to be present in a young boy of 4-year age. It should be considered as a differential diagnosis in young child presenting with liver mass lesion for prompt and early treatment of patient.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Mani S, Dutta D, Binay K. Primitive neuroectodermal tumor of the liver: A case report. Jpn J Clin Oncol 2009;40:258-62.  Back to cited text no. 1
    
2.
Cambruzzi E, Guerra EE, Hilgert HC, Schmitz HJ, Silva VL, Milani DM, et al. Primitive neuroectodermal tumor of the liver: A case report. Case Rep Med 2011;2011:748194.  Back to cited text no. 2
    
3.
Ates O, Basel FB, Bozdogan N, Aksel B, Oksuzoglu OB. Primary hepatic Ewing sarcoma: A very infrequent case report. Ital J Med 2016;10:67-70.  Back to cited text no. 3
    
4.
Ozaki Y, Miura Y, Koganemaru S, Suyama K, Inoshita N, Fujii T, et al. Ewing's sarcoma of the liver with multilocular cystic mass formation: A case report. BMC Cancer 2015;22:15-6.  Back to cited text no. 4
    
5.
Folpe AL, Hill CE, Parham DM, O'Shea PA, Weiss SW. Immunohistochemical detection of FLI-1 protein expression: A study of 132 round cell tumors with emphasis on CD99-positive mimics of Ewing's sarcoma/primitive neuroectodermal tumor. Am J Surg Pathol 2000;24:1657-62.  Back to cited text no. 5
    
6.
Torlakovic EE, Slipicevic A, Flørenes VA, Chibbar R, De Coteau JF, Bilalovic N, et al. Fli-1 expression in malignant melanoma. Histol Histopathol 2008;23:1309-14.  Back to cited text no. 6
    
7.
Mhawech-Fauceglia P, Herrmann FR, Bshara W, Odunsi K, Terracciano L, Sauter G, et al. Friend leukaemia integration-1 expression in malignant and benign tumours: A multiple tumour tissue microarray analysis using polyclonal antibody. J Clin Pathol 2007;60:694-700.  Back to cited text no. 7
    
8.
Kolb EA, Kushner BH, Gorlick R, Laverdiere C, Healey JH, La Quaglia MP, et al. Long-term event-free survival after intensive chemotherapy for Ewing's family of tumors in children and young adults. J Clin Oncol 2003;21:3423-30.  Back to cited text no. 8
    
9.
De Alava E, Gerald WL. Molecular biology of the Ewing's sarcoma/primitive neuroectodermal tumor family. J Clin Oncol 2000;18:204-13.  Back to cited text no. 9
    
10.
Le Deley MC, Delattre O, Schaefer KL, Burchill SA, Koehler G, Hogendoorn PC, et al. Impact of EWS-ETS fusion type on disease progression in Ewing's sarcoma/peripheral primitive neuroectodermal tumor: Prospective results from the cooperative Euro-E.W.I.N.G. 99 trial. J Clin Oncol 2010;28:1982-8.  Back to cited text no. 10
    
11.
Bashiri S, Heidar H, Parvin M. Extraskeletal Ewing sarcoma: Report of an extremely rare case in temporal region. J Dent (Tehran) 2018;15:393-5.  Back to cited text no. 11
    
12.
Lin JK, Liang J. Sinonasal Ewing's sarcoma: A case report and literature review. Perm J 2018;22:17-086.  Back to cited text no. 12
    
13.
Nili F, Pour ASM, Tabriz HM, Pour PSM, Saffar H. Peripheral primitive neuroectodermal tumor of the Ovary: The report of two rare cases. Iran J Pathol 2018;13:467-70.  Back to cited text no. 13
    
14.
Goudarzipour K, Farahmandi F, Mohammadi A, Taherian R. Ewing's sarcoma/peripheral primitive neuroectodermal tumor in the adrenal gland of a child. Iran J Kidney Dis 2018;12:190-2.  Back to cited text no. 14
    
15.
McArdle TJD, Nott L, Harle R, McArdle JP. Extraosseous Ewing's sarcoma arising in a chronically lymphedematous limb. J Vasc Surg Cases Innov Tech 2018;4:210-5.  Back to cited text no. 15
    
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Scantland JT, Gondim MJ, Koivuniemi AS, Fulkerson DH, Shih CS. Primary spinal intradural extraosseous Ewing's sarcoma in a pediatric patient: Case report and review of the literature. Pediatr Neurosurg 2018;53:222-8.  Back to cited text no. 16
    
17.
Bang JS, Adsul N, Lim JH, Jang IT. Extra-osseous Ewing's sarcoma of sciatic nerve masquerading as benign nerve sheath tumor and presented as lumbar radiculopathy: Case report and review of literature. World Neurosurg 2018;115:89-93.  Back to cited text no. 17
    
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Takami H, Kumar R, Brown DA, Krauss WE. Histologic features and prognosis of spinal intradural extramedullary Ewing's sarcoma: Case report, literature review, and analysis of prognosis. World Neurosurg 2018;115:448-52.  Back to cited text no. 18
    
19.
Bilgetekin I, Karaca M, Gönül II, Üner A, Şahinli H, Demir H, et al. Ewing's sarcoma of kidney in a 60-year-old patient with local recurrence: A rare occurrence. J Can Res Ther 2018;14:1422-4.  Back to cited text no. 19
[PUBMED]  [Full text]  
20.
Astekar M, Madhusudan, Saxena S, Murari A, Manjunatha BS. Ewing's sarcoma in maxilla. BMJ Case reports 2019;12:1-4.  Back to cited text no. 20
    
21.
Lavorato A, Titolo P, Vincitorio F, Cofano F, Garbossa D. Intraneural Ewing's sarcoma of fibular nerve: Case report, radiologic findings and review of literature. World Neurosurg 2019;123:212-5.  Back to cited text no. 21
    
22.
Parcesepe P, Giordano G, Zanella C, Giuliani J, Greco F, Bonetti A, et al. Colonic Ewing's sarcoma/PNET associated with liver metastases: A systematic review and case report. Pathol Res Pract 2019;215:87-391.  Back to cited text no. 22
    

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Correspondence Address:
Neha Sethi
Department of Pathology, BMCHRC, Jaipur, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJPM.IJPM_288_19

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