Primary Cutaneous Ewing Sarcoma Research Articles

PA23 Primary cutaneous Ewing sarcoma in a 14-year-old boy

Abstract A 14-year-old boy presented with a 7-month history of a nodule on the right shoulder. It was initially pink and pea-sized but developed black areas as it grew. It was nontender but bled occasionally. He was otherwise well and took no regular medications. He was originally from the Philippines, having moved to the UK 2 years previously. His mother had a history of breast cancer. This was suspected to be a pyogenic granuloma and treated with a shave biopsy. Histology showed largely patternless sheets of small, blue, round cells, with diffuse and strong membranous reactivity for CD99 on immunohistochemistry. Further molecular analysis revealed EWSR1–FLI1 fusion, confirming Ewing sarcoma. Staging imaging showed no metastatic disease. Following further surgery, he was treated as per the Euro-Ewing protocol with vincristine (V), doxorubicin (D), cyclophosphamide (C), ifosfamide (I), etoposide (E; nine induction cycles: alternate VDC/IE followed by five consolidation cycles IE/VC). Ewing sarcoma most commonly arises from bone and is the second most common bone malignancy in children with an incidence of 2.93 per million. Primary cutaneous Ewing sarcoma is extremely rare, with most of the literature consisting of case reports. A 2015 retrospective review of 56 cases of cutaneous/subcutaneous Ewing sarcoma from the UK and France found that most cases were on the extremities (48%) or trunk (39%). Primary cutaneous Ewing sarcoma tends to occur in late-adolescent or young-adult females, whereas bone disease affects younger patients with a male predominance. Current treatment is similar to treatment for Ewing arising from bone. However, primary cutaneous Ewing sarcoma has a more favourable prognosis, with a 5-year overall survival rate of 93.8%. In summary, cutaneous Ewing sarcoma is a very rare malignancy, particularly in the paediatric population. It is important to consider this in the differential diagnosis of erythematous nodular lesions in children, in order to minimize delays in treatment.

A Violaceous Mass of the Chest: An Unsuspected Diagnosis of Primary Ewing Sarcoma

Ewing Sarcoma is the second most common primary bone cancer. To date, only a few cases of primary cutaneous Ewing Sarcoma have been published. We present a unique case of primary cutaneous Ewing Sarcoma, which presented as a blue to violaceous mass on a young woman’s chest. The lesion clinically did not align with previous reports of primary cutaneous Ewing Sarcoma but pathology and immunohistochemical stains confirmed the diagnosis. Because primary cutaneous Ewing Sarcoma may masquerade as benign tumors, dermatologists must be suspicious of otherwise benign looking tumors.

Primary Cutaneous Ewing Sarcoma of the Scalp With Metastasis to the Lung: An Unusual Manifestation During Pregnancy

A 32-year-old G2P1L1 (5 months pregnant) woman presented with a 3-month history of a slow-growing cystic lesion on her scalp vertex. Similar lesions in the exact location were excised twice in the past with a diagnosis of trichilemmal carcinoma (TC). A biopsy of the scalp lesion showed morphology and immunoprofile consistent with previously diagnosed TC. Staging PET/CT demonstrated a 4.7 cm right upper lobe lung, and a subsequent lung biopsy showed a small, round blue-cell tumor with necrosis, morphologically identical to the prior biopsies from the scalp. Considering the unusual clinical course of TC, a lung biopsy was sent for next-generation sequencing that showed EWSR1-FLI1 (type1) fusion. Additionally, CD99 immunostaining revealed uniform cytoplasmic and membranous staining in the tumor cells. The previous scalp excision specimen was also sent for mutation analysis, which showed EWSR1-FLI1 fusion. In conjunction with clinical history and histological and molecular findings, a definitive diagnosis of primary cutaneous Ewing sarcoma (PCES) with local recurrence and metastasis to the lung was made. We present a case of PCES, which was previously misdiagnosed and treated as TC. This case emphasizes the importance of CD99 in the initial screening of cutaneous small round blue-cell tumors to avoid misdiagnosis from other morphological overlaps. Also, despite its rarity, PCES should be included in the differential diagnosis of small, round, blue cell tumors at cutaneous sites. Our case also exemplifies common biases in medical decision-making, including premature closure and anchoring bias which can result in misdiagnosis or diagnostic delay and associated delay in appropriate management.

Primary Cutaneous Diffuse Large B Cell Lymphoma, Leg Type: A Rare Neoplasm Masquerading as Squamous Cell Carcinoma

Primary Cutaneous Diffuse Large B Cell Lymphoma, Leg Type (PCDLBCL, LT) comprises 4% of all cutaneous lymphomas, and it presents as an aggressive form of lymphoma. Rarely do pathologist/cytologists find specimens of PCDLBCL, LT on Fine Needle Aspiration Cytology (FNAC). The mimickers on FNAC are metastatic small cell carcinoma, Merkel Cell Carcinoma (MCC), Malignant Melanoma (MM), Cutaneous Alveolar Rhabdomyosarcoma and Primary Cutaneous Ewing's Sarcoma (PCES). A 75-year-old female patient presented in the Department of Surgery with multiple nodules on the leg for three months. On cytology small round cell tumour with possibility of non hodgkin lymphoma was given and biopsy was advised. The confirmation of PCDLBCL, LT on cytology is not recommended however, it is emphasised that it can be picked up on FNAC and distinguished from its mimickers. Because of the aggressive nature and poor prognosis with the frequent relapses and tendency for extracutaneous spread, it is considered to be a distinct type of cutaneous lymphoma which needs to be diagnosed and treated as early as possible.

A large femoral primary cutaneous Ewing's sarcoma in a 35-year-old woman: Case report.

IntroductionExtraskeletal Ewing's sarcoma is a rare malignant tumor of mesenchymal origin, which is histologically similar to primary osseous Ewing's sarcoma. It has been well described in deep soft tissues. However, location in cutaneous or subcutaneous tissue has rarely been reported. Being seen principally in children, it can be seen, rarely, in old men.Case presentationWe present a case of large primary cutaneous Ewing sarcoma within the left thigh of a 35-year-old woman, without osseous involvement. Physical examination. Histologically, it was a small round cell tumor that marked strongly for CD99. The diagnosis of cutaneous Ewing sarcoma was performed.DiscussionThe things that distinguish our case are that it is the first case in Syria, in addition to the size of the large tumor with diameters of 15 × 20 cm, and it is in a 35-year-old woman.ConclusionEwing sarcoma is a rare malignant small round cell tumor of the skin and subcutaneous tissue. It should be differentiated from other cutaneous neoplasms composed of small round cells.

Primary cutaneous Ewing sarcoma in a young girl.

Primary cutaneous Ewing sarcoma in a young girl.

Cutaneous Ewing's sarcoma of scalp with lung metastases in an elderly female: A rare case report

Ewing's sarcoma (ES) is a primitive neuroectodermal tumor. It is usually a primary bone tumor but rarely occurs in the skin and subcutaneous tissues (primary cutaneous ES [PCES]). It usually involves the deep subcutaneous tissue or muscles and rarely occurs as primary skin cancer. Most patients are white, women, and in the second decade of life. The diagnosis is made by aspiration cytology, histochemical stains, immunohistochemistry, electron microscopy, cytogenetics, and molecular genetics of translocations. Due to their rarity and morphological similarity to other cutaneous tumors, ESs are subject to being clinically and pathologically underdiagnosed. Cutaneous ES has a better prognosis than primary bone or soft-tissue ES, with a survival rate of 91% in 10 years and the presence of metastasis being rare. At present, no specific treatment guidelines inform the management of cutaneous Ewing tumor. The treatment modalities are extrapolated based on the management of bone ES while includes neoadjuvant chemotherapy, surgery, adjuvant chemotherapy (±radiotherapy), and autologous bone marrow transplantation in high-risk patients. Standard first-line treatment for patients with these tumors includes chemotherapy with a five-drug regimen of vincristine, doxorubicin (Adriamycin®), and cyclophosphamide, alternating with ifosfamide and etoposide. We report a rare case in a 60-year-old female diagnosed as PCES with lung metastases, treated by palliative chemotherapy.

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

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.

Insulinoma-associated 1: A novel nuclear marker in Merkel cell carcinoma (cutaneous neuroendocrine carcinoma).

Merkel cell carcinoma (MCC) is a rare, clinically aggressive, cutaneous neuroendocrine (NE) neoplasm. As a tumor with small, round, blue cells, the histologic differential diagnosis for MCC can include melanoma, metastatic small cell carcinoma (SCC), nodular hematopoietic tumors, basal cell carcinoma (BCC), atypical variants of squamous carcinoma and the uncommon occurrence of primary cutaneous Ewing sarcoma. In cases with atypical histology or without the classic immunophenotype, the diagnosis can be challenging. Ultimately, immunohistochemistry (IHC) is essential to the definitive diagnosis of MCC and in difficult cases, the diagnosis may hinge entirely on the immunophenotype of the tumor cells. Insulinoma-associated 1 (INSM1) is a transcription factor expressed in tissues undergoing terminal NE differentiation. As a nuclear protein tied to both differentiation and the cell cycle, INSM1 may offer additional utility in comparison to traditional, cytoplasmic markers of NE differentiation.

Primary cutaneous Ewing sarcoma presenting as a chest wall lesion

A 10-year-old boy presents with a rare case of primary cutaneous Ewing sarcoma. The left-sided chest wall lesion was initially thought to be a benign haemangioma and treated with cryotherapy....

Primary Cutaneous Ewing Sarcoma: Case Report and Review of Literature

Ewing sarcoma (ES) is a primitive neuroectodermal tumor. It’s usually a primary bone tumor but rarely occurs in the skin and subcutaneous tissues. Current literature reports only a few isolated cases or small series. To date, less than 100 cases have been reported. The diagnosis is made by aspiration cytology, histochemical stains, immunohistochemistry, electron microscopy, cytogenetics and molecular genetics of translocations. Cutaneous ES has better prognosis than primary bone or soft tissue ES with a survival rate of 91% in 10 years. The presence of metastasis is really rare. Currently, no specific recommendations to primitively cutaneous Ewing tumors, these latter are treated as bone Ewing's sarcomas: neoadjuvant chemotherapy, surgery, adjuvant chemotherapy (+/− radiotherapy), and autologous bone marrow transplantation in high risk patients. We report a new case in a 20-yearold female with a lesion in the left elbow.

Primary Cutaneous Ewing Sarcoma: Report of a Case

Primary cutaneous Ewing's sarcoma is a rare entity. Although the diagnosis may be very difficult, it can be confirmed through molecular biology. We present the case of a 13-years old male with a lesion in the sole of the right foot, characterized by a monomorphous proliferation of small, round and blue cells. The histology and molecular biology allowed us to perform the diagnosis of cutaneous Ewing's sarcoma. This neoplasm must be distinguished from other round cell tumors with cutaneous involvement. The prognosis and treatment of this rare disease will also be discussed.

47. Primary cutaneous Ewing's sarcoma

The Ewing's sarcoma breakpoint region 1 gene ( EWSR1, chromosome 22q12) is ubiquitously expressed in human cells but the function of its encoded protein has not yet been elucidated. Rearrangements involving EWSR1 were first described in Ewing sarcoma/peripheral neuroectodermal tumours (PNET) and are now seen in a variety of soft tissue tumours. Most Ewing's sarcoma cases involve fusion with FLI1 , with a minority involving ERG and rarely ETV1 , ETV4 and FEV genes amongst others. Cutaneous primary presentation of Ewing's sarcoma is rare and most cases possess the classic FLI1 t(11;22). Careful clinical and histological examination is required to exclude both a deep-seated primary malignancy and the differential list of small round blue cell tumours. We present a case of primary cutaneous Ewing's sarcoma arising as nodule in the left upper back of a 14 year old male. Histological and immunohistochemical features were highly suggestive of a Ewing's sarcoma/PNET. Fluorescence in-situ hybridisation showed a EWSR1 gene rearrangement confirming the tumour belonged to the Ewing's sarcoma family. However the translocation did not involve the common FLI1 or ERG translocation partners, implying possession of the rarer translocation partners which are not routinely assayed in our local diagnostic laboratory. The patient went on to have post-resection chemotherapy and follow up radiology ten months later showed absence of recurrent or metastatic disease.

Primary cutaneous Ewing sarcoma following metastasis to the bone and lymph nodes

Primary cutaneous Ewing sarcoma following metastasis to the bone and lymph nodes

Primary cutaneous Ewing sarcoma: a systematic review focused on treatment and outcome

Despite intensive treatment, the overall prognosis of Ewing sarcoma of the bone remains poor. Primary cutaneous Ewing sarcoma very rarely occurs and the prognosis has been reported to be better in some small series. All cases of Ewing sarcoma are currently treated in the same way, regardless of their location. To determine whether Ewing sarcoma of the bone and primary cutaneous Ewing sarcoma are different in terms of epidemiology and prognosis. A systematic review of the literature was carried out using the keywords 'cutaneous Ewing's sarcoma', 'primary Ewing's sarcoma of skin' and 'primary neuroectodermal tumour and skin' in the Medline database. Series of five or more cases were included. Six series met the inclusion criteria, making a total of 61 patients. Median age at diagnosis was 17 years and 33% were male. The median size of the tumour was 2·3 cm. The treatment consisted of surgery in all cases, adjuvant multiagent chemotherapy in 69% of cases, adjuvant chemoradiotherapy in 38% of cases and adjuvant radiotherapy without adjuvant chemotherapy in 3% of cases. Six patients developed metastases, four of whom died. The overall survival was 93% and the 10-year probability of survival was estimated at 91% (95% confidence interval 83-100). This systematic review demonstrated epidemiological and prognostic differences between Ewing sarcoma of the bone and primary cutaneous Ewing sarcoma. Primary cutaneous Ewing sarcoma has a female predominance, occurs at a later age, but, more importantly, has a better outcome. Multimodal therapy for Ewing sarcoma is associated with immediate and long-term morbidity and mortality. Although the size of our study does not allow a definitive conclusion about treatment modalities, we suggest that a less toxic approach compared with conventional treatment should be investigated in primary cutaneous Ewing sarcoma.

Sarcome d’Ewing cutané primitif : difficultés diagnostiques et thérapeutiques

Ewing's sarcoma (or peripheral neuroectodermal tumour) is generally found in bone tissue, and a primary dermal site is extremely rare. We report a case of primary cutaneous Ewing's sarcoma in a 21-year-old woman. A 21-year-old woman presented with a scapular lesion that had been slowly developing for one year. The 1-cm lesion was removed and histological examination showed proliferation of small round cells in the dermis. Immunostaining revealed cytoplasmic membrane expression of CD99 and a negative immunoprofile for other small round-cell tumors. Ewing's sarcoma fusion gene transcripts were detected using fluorescence in situ hybridization (FISH). A staging examination revealed no other abnormalities. It was decided to treat the lesion as for osseous Ewing's sarcoma with wide resection followed by systemic adjuvant chemotherapy. Cutaneous Ewing's sarcoma raises concerns about diagnosis and treatment. Owing to the non-specificity of its clinical presentation, histology and immunoprofile, diagnosis of superficial Ewing's sarcoma is difficult and numerous differential diagnoses must be considered. When dealing with a surface tumour, the diagnosis of cutaneous Ewing's sarcoma must be considered. CD99 immunostaining and molecular testing for evidence of EWSR1 rearrangement are useful investigations to confirm the diagnosis. Furthermore, modalities of treatment must be carefully discussed. Cutaneous Ewing's sarcoma is currently treated in the same way as osseous Ewing's sarcoma (wide surgical excision, adjuvant radiotherapy when surgical margins are unsatisfactory, systemic adjuvant chemotherapy, and, in some cases, bone marrow transplant). However, some studies show a more favourable prognosis for cutaneous Ewing's sarcoma than for osseous Ewing's sarcoma. We may thus ask whether such aggressive multimodal treatment is needed.