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Table of Contents
CASE REPORT
Year : 2018  |  Volume : 22  |  Issue : 1  |  Page : 41-44

Primary cutaneous extraskeletal Ewing's sarcoma: A case report of an extremely rare entity


1 Department of Plastic, Reconstructive and Craniomaxillofacial Surgery, Gaia Hospital Center, Oporto, Portugal
2 Department of Plastic and Reconstructive Surgery, Portuguese Oncology Institute, Oporto, Portugal
3 Department of Pathology, Portuguese Oncology Institute, Oporto, Portugal

Date of Web Publication31-Jan-2018

Correspondence Address:
Dr. Diana Costa Santos
Rua Conceição Fernandes, s/n,4434-502 Vila Nova de Gaia
Portugal
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jdds.jdds_11_18

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  Abstract 


Primary cutaneous extraskeletal Ewing's sarcoma is an extremely uncommon entity. Patients are mostly female in the second decade of life, and the clinical presentation usually consists of a single superficial mass of 2–3 cm, oval-shaped, flesh-colored, soft, moveable, and sometimes painful. The diagnosis is difficult and depends on histological, immunohistochemical, and cytogenetical analysis. The prognosis is usually favorable with a survival rate of 91% in 10 years. We describe a 20-year-old man with a primary cutaneous Ewing's sarcoma localized on the pulp of the right 5th finger. It is very important to report all cases to improve the characterization of this pathology. In the presence of a cutaneous lesion with this clinical presentation, it is important to request the anatomopathological study and include this entity as a differential diagnosis, so that we can improve the diagnostic timing and therefore the prognosis.

Keywords: Cutaneous tumors, Ewing's sarcoma, skin


How to cite this article:
Santos DC, Barbosa R, Azevedo R, Rebelo M, Pinho C, Choupina M, Filipe RV, Ribeiro M. Primary cutaneous extraskeletal Ewing's sarcoma: A case report of an extremely rare entity. J Dermatol Dermatol Surg 2018;22:41-4

How to cite this URL:
Santos DC, Barbosa R, Azevedo R, Rebelo M, Pinho C, Choupina M, Filipe RV, Ribeiro M. Primary cutaneous extraskeletal Ewing's sarcoma: A case report of an extremely rare entity. J Dermatol Dermatol Surg [serial online] 2018 [cited 2019 Sep 17];22:41-4. Available from: http://www.jddsjournal.org/text.asp?2018/22/1/41/224389




  Introduction Top


The Ewing's sarcoma family of tumors conventionally includes three main entities: Ewing's sarcoma, Askin tumor of the chest wall, and peripheral neuroectodermal tumor.[1] The Ewing's sarcoma is a primarily osseous tumoral lesion, and when present in soft tissues, it characterizes an extremely uncommon subtype named extraskeletal Ewing's sarcoma. The extraskeletal Ewing's sarcoma usually involves the deep soft tissues (deep subcutaneous layer or muscles). Nevertheless, more rarely it presents in a superficial location, limited to the skin, circumscribed to mid-to-deep dermis or involving superficial subcutis, and is called primary cutaneous extraskeletal Ewing's sarcoma.[2],[3],[4],[5] Reports of this entity are very rare, with only a few isolated cases or small series. In 2012, Delaplace et al., in a systematic review of the literature, identified 61 reported patients.[1]

Patients are mostly female (3:1) and the diagnosis is usually in the second decade of life.[1],[6] The clinical presentation usually consists of a single superficial mass of 2–3 cm, oval-shaped, flesh-colored, soft, moveable, and sometimes painful.[4],[7],[8] The most affected locations are the lower limbs, followed by the upper limbs, the head, and finally, the trunk.[1],[6]

The diagnosis of primary cutaneous Ewing's sarcoma is not possible if only based on clinical presentation or imaging, which are not specific enough.[9] The diagnosis relies on aspiration cytology, immunohistochemistry, cytogenetics, and molecular genetics of translocations.[10]

Primary cutaneous extraskeletal Ewing's sarcoma has a favorable prognosis with a survival rate of 91% in 10 years, especially when compared with extraskeletal Ewing's sarcoma (61% survival at 5 years) or osseous Ewing's sarcoma (49% survival at 5 years). Treatment is controversial but consists primarily of surgical resection. However, in some patients, chemotherapy and/or radiotherapy may be associated.


  Case Report Top


A 20-year-old caucasian man with a mass localized on the pulp of the right 5th finger was referred to a plastic surgery appointment. The patient noticed an infracentimetric mass 3 months before and reported occasional pain and a rapid progressive growth since then. He denied any history of local trauma or infection. No other relevant medical or surgical history was described.

Physical examination revealed a single superficial mass of about 2 cm, externally smooth, with regular edges, soft, and nonadherent to the deeper tissues [Figure 1]. No regional lymph node involvement was clinically apparent.
Figure 1: Nodular mass on the pulp of the right 5th finger (19 mm × 18 mm). (a) Front view. (b) Lateral view

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The patient underwent magnetic resonance imaging (MRI) that showed a nonspecific solid expansive lesion, centered on the finger pulp, extending up to 3 mm proximal to the distal interphalangeal joint and measuring approximately 17 mm × 17 mm. After administration of contrast, the mass was enhanced, apparently not involving the tendon sheath, the joint or the bone [Figure 2]. Given its vascularization pattern, the diagnosis of neurogenic tumor or glomus tumor was suggested. Preoperative routine examinations were normal.
Figure 2: Magnetic resonance imaging preoperative images. (a) Sagittal view. (b) Transversal view

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Thereafter, the patient underwent surgical resection [Figure 3]. The histological examination showed dermis and subcutaneous tissue invaded by a multinodular pattern tumor, consisting of small cells with oval nucleus and scarce cytoplasm [Figure 4]. The epidermis was not involved. No images of lymphovascular or perineural involvement were identified, and the mitotic index was 2 mitoses per 10 high-power fields. The margins of surgical resection were tangential (<1 mm, circumferentially). The histochemical study showed focal intracytoplasmic glycogen deposits. The immunohistochemical study showed diffuse positivity for CD99 [Figure 5] and vimentin, multifocal positivity for EMA and negativity for PS100, HMB45, CD34, AML, and AE1/AE3. The genetic study showed a rearrangement in the 22q12 chromosome involving Ewing's sarcoma breakpoint region 1 (EWSR1) gene. The morphological findings together with the immunohistochemical and genetic profile suggested a primary cutaneous extraskeletal Ewing's sarcoma.
Figure 3: Tumor after surgical resection. (a) Deep face. (b) Superficial face

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Figure 4: H and E staining (×200) images. The cells are small with oval nucleus and scarce cytoplasm

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Figure 5: Immunohistochemical image showing positivity for CD99

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The multidisciplinary cancer team proposed cancer staging with a bone marrow biopsy, a whole-body computed tomography (CT) scan and positron emission tomography (PET). Bone marrow was normocellular and with no signs of neoplastic involvement. CT and PET did not show evidence of tumor persistence, regional lymph node involvement, or distant metastases. Therefore, and taking into account the close resection margins, the patient has been proposed for widening of surgical margins and adjuvant chemotherapy. The surgery did not involve finger amputation and did not significantly impair aesthetic or functional outcomes [Figure 6]. During chemotherapy, he developed 2 episodes of pneumonia. He did not receive radiotherapy.
Figure 6: Images of the affected hand at 6-month postoperative. (a) Dorsal view. (b) Volar view. (c) Image of interphalangeal joints flexion with no functional limitation

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Follow-up, which is now 3 years long, included clinical examination every 3 months and MRI every 6 months during the 1st year, clinical examination and MRI every 6 months during the 2nd year and clinical examination and MRI annually onward [Figure 7].
Figure 7: Second year follow-up magnetic resonance imaging images, with no evidence of tumor recurrence. (a) Coronal view. (b) Sagittal view. (c) Transversal view

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  Discussion Top


Primary cutaneous extraskeletal Ewing's sarcoma is an extremely uncommon entity.[1],[2],[3],[4],[5] Patients are mostly young adult females and according to Di Giannatale et al., the overall female/male sex ratio is 1.9 and the average age at diagnosis is 21.5 years.[6] According to Delaplace et al., the gender ratio is 3 and the median age at diagnosis is 17 years.[1] Our report increases the small number of described cases, being in accordance with the age at diagnosis, although integrating the less affected gender group. The clinical presentation was typical. However, the time until diagnosis was shorter (3 vs. 5 months).[4],[6],[7] The reported tumor was localized in the hand, a relatively common location, since the most common affected locations are the lower limbs (38%), followed by the upper limbs (26%), head (20%), and trunk (16%).[1]

Usually, imaging exams do not have sufficient specificity to make the diagnosis, but they are useful for tumor characterization and preoperative planning.[9],[10],[11],[12],[13] MRI typically shows multiple masses confined to the subcutaneous and cutaneous areas, with nonspecific signals of low to intermediate intensity on T1-weighted images and intermediate to high-signal intensity on T2-weighted images that enhance after contrast administration. The images are usually nonspecific and similar to other findings reported in other cutaneous tumors, which is in accordance with our patient images.[1],[13] As previously mentioned, the diagnosis relies on aspiration cytology, immunohistochemistry, and cytogenetics and molecular genetics of translocations.[10] Histologically, it is formed by small cells with round hyperchromatic nuclei and a single nucleolus. The cytoplasm is poorly defined, scarce, of clear coloration and with irregular vacuoles resulting from intracellular deposits of glycogen. Immunohistochemically, the cells usually express CD99 and are characterized by a specific chromosomal translocation involving gene EWSR1 in chromosome 22q12 with an erythroblastosis virus transforming gene, resulting in a fusion oncogene. Since the histology and immune-histochemical profile are also relatively nonspecific, many differential diagnoses must be considered, such as Merkel cell carcinoma, cutaneous lymphomas, malignant primitive neuroectodermal tumor or rhabdomyosarcoma.[11],[12],[13],[14],[15] In accordance with the literature, the anatomopathological analysis of the reported lesion showed positivity for CD99 and presented a translocation involving gene EWSR1 in chromosome 22q12.[11],[12],[13] However, since primary cutaneous extraskeletal Ewing's sarcoma shares many morphological similarities with other cutaneous tumors and the histological and immunohistochemical profile is relatively nonspecific, there is a high rate of undiagnosed cases.[9],[10],[11],[12],[13],[14],[15]

Our patient underwent surgical resection, widening of the surgical margins after the anatomopathological diagnosis and adjuvant chemotherapy, which is accordant to the recent literature. Actually, the current treatment indications consist primarily of surgical resection. However, in some patients, chemotherapy and/or radiotherapy may be associated. According to Delaplace et al., in cases of primary cutaneous extraskeletal Ewing's sarcoma with tumor cells in the bone marrow, the treatment should be the conventional Ewing's sarcoma multimodal approach. However, in other cases, only surgical resection should be indicated, since multimodal therapy for Ewing's sarcoma is related to severe complications and tumor volume is a critical prognostic factor of metastases.[1] Regarding surgical margins, the published range runs from negative for tumor at the inked margin to 5 cm. According to Kandel et al., the data suggest that patients with clear margins have a better prognosis, but no prospective studies have indicated how wide margins should be. To preserve functionality, surgery may result in a very close (<1 cm) or even microscopically positive margins. In this situation, the use of preoperative or postoperative radiation should be considered. Furthermore, no studies described the optimal number of tissue sections required to assess the adequacy of excision nor the appropriate handling of surgical resection specimens.[16]

Usually, cutaneous subtype of Ewing's sarcoma is considered of better prognosis when compared to the soft part or bone ones. The less aggressive behavior of the cutaneous variety probably occurs because, despite its fast growth rate, usually it has a smaller size and has a superficial location that allows earlier diagnosis, with a medium evolution time until diagnosis of 5 months, and complete surgical resection, preventing metastatic spread in most patients.[10]

Accordingly, our case report has a 3-year follow-up with no evidence of recurrence or metastases. The literature is very poor in reports of recurrent cases, which makes it difficult to predict the impact of a recurrence on the prognosis. Grassetti et al. described a primary cutaneous extraskeletal Ewing's sarcoma of the foot, which was initially diagnosed and treated as a viral wart by the dermatologist without resolution. They reported an 11-month follow-up, during which no evidence of recurrence or metastases was noticed.[10]

The report of such a rare entity contributes contribute to advances in the field of treatment and serves as proof that diagnostic confirmation by the anatomopathologist is required in face of any nodule-tumoral lesion, even if it clinically presents benign characteristics.

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.
Delaplace M, Lhommet C, de Pinieux G, Vergier B, de Muret A, Machet L, et al. Primary cutaneous Ewing sarcoma: A systematic review focused on treatment and outcome. Br J Dermatol 2012;166:721-6.  Back to cited text no. 1
    
2.
Chow E, Merchant TE, Pappo A, Jenkins JJ, Shah AB, Kun LE, et al. Cutaneous and subcutaneous Ewing's sarcoma: An indolent disease. Int J Radiat Oncol Biol Phys 2000;46:433-8.  Back to cited text no. 2
    
3.
Somers GR, Shago M, Zielenska M, Chan HS, Ngan BY. Primary subcutaneous primitive neuroectodermal tumor with aggressive behavior and an unusual karyotype: Case report. Pediatr Dev Pathol 2004;7:538-45.  Back to cited text no. 3
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4.
Ehrig T, Billings SD, Fanburg-Smith JC. Superficial primitive neuroectodermal tumor/Ewing sarcoma (PN/ES): Same tumor as deep PN/ES or new entity? Ann Diagn Pathol 2007;11:153-9.  Back to cited text no. 4
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5.
Machado I, Traves V, Cruz J, Llombart B, Navarro S, Llombart-Bosch A, et al. Superficial small round-cell tumors with special reference to the Ewing's sarcoma family of tumors and the spectrum of differential diagnosis. Semin Diagn Pathol 2013;30:85-94.  Back to cited text no. 5
    
6.
Di Giannatale A, Frezza AM, Le Deley MC, Marec-Bérard P, Benson C, Blay JY, et al. Primary cutaneous and subcutaneous Ewing sarcoma. Pediatr Blood Cancer 2015;62:1555-61.  Back to cited text no. 6
    
7.
Collier AB 3rd, Simpson L, Monteleone P. Cutaneous Ewing sarcoma: Report of 2 cases and literature review of presentation, treatment, and outcome of 76 other reported cases. J Pediatr Hematol Oncol 2011;33:631-4.  Back to cited text no. 7
    
8.
Shingde MV, Buckland M, Busam KJ, McCarthy SW, Wilmott J, Thompson JF, et al. Primary cutaneous Ewing sarcoma/primitive neuroectodermal tumour: A clinicopathological analysis of seven cases highlighting diagnostic pitfalls and the role of FISH testing in diagnosis. J Clin Pathol 2009;62:915-9.  Back to cited text no. 8
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9.
Machado I, Llombart B, Calabuig-Fariñas S, Llombart-Bosch A. Superficial Ewing's sarcoma family of tumors: A clinicopathological study with differential diagnoses. J Cutan Pathol 2011;38:636-43.  Back to cited text no. 9
    
10.
Oliveira Filho JD, Tebet AC, Oliveira AR, Nasser K. Primary cutaneous Ewing sarcoma – Case report. An Bras Dermatol 2014;89:501-3.  Back to cited text no. 10
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11.
Lee CS, Southey MC, Slater H, Auldist AW, Chow CW, Venter DJ, et al. Primary cutaneous Ewing's sarcoma/peripheral primitive neuroectodermal tumors in childhood. A molecular, cytogenetic, and immunohistochemical study. Diagn Mol Pathol 1995;4:174-81.  Back to cited text no. 11
    
12.
Sexton CW, White WL. Primary cutaneous Ewing's family sarcoma. Report of a case with immunostaining for glycoprotein p30/32 mic2. Am J Dermatopathol 1996;18:601-5.  Back to cited text no. 12
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13.
Terrier-Lacombe MJ, Guillou L, Chibon F, Gallagher G, Benhattar J, Terrier P, et al. Superficial primitive Ewing's sarcoma: A clinicopathologic and molecular cytogenetic analysis of 14 cases. Mod Pathol 2009;22:87-94.  Back to cited text no. 13
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14.
Bahk WJ, Chang ED, Bae JM, Chun KA, Lee AH, Rho SY, et al. Primary cutaneous Ewing's sarcoma/primitive neuroectodermal tumor manifesting numerous small and huge ulcerated masses: Its complete remission by chemotherapy and magnetic resonance imaging findings. Skeletal Radiol 2010;39:595-600.  Back to cited text no. 14
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15.
Grassetti L, Torresetti M, Brancorsini D, Rubini C, Lazzeri D, Di Benedetto G, et al. A peculiar case of large primary cutaneous Ewing's sarcoma of the foot: Case report and review of the literature. Int J Surg Case Rep 2015;15:89-92.  Back to cited text no. 15
    
16.
Kandel R, Coakley N, Werier J, Engel J, Ghert M, Verma S, et al. Surgical margins and handling of soft-tissue sarcoma in extremities: A clinical practice guideline. Curr Oncol 2013;20:e247-54.  Back to cited text no. 16
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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