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 Table of Contents  
Year : 2014  |  Volume : 2  |  Issue : 2  |  Page : 81-83

Primitive neuroectodermal tumor presenting with superior vena cava syndrome

1 Department of Pediatrics, PGIMER, Dr. RML Hospital, New Delhi, India
2 Department of Pathology, PGIMER, Dr. RML Hospital, New Delhi, India

Date of Web Publication23-Jun-2014

Correspondence Address:
Devki Nandan
MD (Pediatrics), D 3/3210, DDA SFS Flats, Vasant Kunj, New Delhi 110 070
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2320-8775.135119

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Peripheral primitive neuroectodermal tumor (PNET) of the chest wall is considered akin to Ewing's sarcoma in terms of histology, immunohistology and cytogenetics. These tumors usually occur in children and young adults. These tumors usually present with cough, fever, chest pain and hemoptysis. Initial presentation as superior vena cava syndrome (SVCS) is rarely seen. Complete blockage of venous drainage in SVCS may lead to fatal outcome. These tumors are highly aggressive with a high incidence of local recurrence and distant metastases. Combination therapy comprising of chemotherapy, radiotherapy and surgery can be lifesaving in these patients. We present a case of primary mediastinal PNET in a 12-year-old girl. To the best of our knowledge, this is the first case of PNET presenting with SVCS in children.

Keywords: Children, primitive neuroectodermal tumor, superior vena cava syndrome

How to cite this article:
Nag VK, Nandan D, Chatterjee A, Bhardwaj M. Primitive neuroectodermal tumor presenting with superior vena cava syndrome. J Assoc Chest Physicians 2014;2:81-3

How to cite this URL:
Nag VK, Nandan D, Chatterjee A, Bhardwaj M. Primitive neuroectodermal tumor presenting with superior vena cava syndrome. J Assoc Chest Physicians [serial online] 2014 [cited 2022 Sep 25];2:81-3. Available from: https://www.jacpjournal.org/text.asp?2014/2/2/81/135119

  Introduction Top

Primitive neuroectodermal tumour (PNET) of the chest wall (also called Askin tumours) originally described by Askin et al. in 1979, are peripheral PNETs (pPNETs) associated with the chest wall, ribs, and thoracic cavity. [1] PNETs are a rare group of tumors, which carry identical chromosomal translocations t(11;22)(q24;q12), to those seen in Ewing sarcoma. [1] These tumors are highly aggressive and metastasize rapidly with poor prognosis. [1],[2],[3]

Peripheral primitive neuroectodermal tumor of the chest wall is a rare malignant tumor seen in children and young adults. [2],[3] These tumors generally presents with cough, fever, dyspnea, hemoptysis, and chest pain. [2],[3],[4] Presentation with superior vena cava syndrome (SVCS) is rarely reported. SVC compression may be missed in earlier stage because of fewer signs and symptoms. SVCS is considered a medical emergency. Complete SVC blockage may develop suddenly leading to fatal outcome.

Review of literature using PubMed and the search terms Ewing's sarcoma and/or PNET with SVCS, we found only one case report mentioning SVCS as initial presenting feature. [5]

  Case report Top

A 12-year-old female child was admitted in our Department of Pediatrics in October 2013 with complaints of fever since last 6 months, dry cough and weakness of right upper limb and lower limb since 1 month, progressively increasing dyspnea and facial edema since 15 days. She did not have history of hemoptysis, significant weight loss, and night sweats. There was no history of contact with tuberculosis in family.

On examination, she was tachypneic. Pallor, facial edema and engorged neck veins were present. Right submandibular lymph node (~1.5-2 cm, mobile and nontender) and right axillary lymph node (2.5-3 cm, firm, nontender, mobile) were enlarged. There was decreased air entry and dullness on percussion over right hemithorax. Bronchial breathing in right infraclavicular area was also noted. Hepatomegaly (7 cm, firm) was present. Spleen was not palpable. She was conscious and oriented. There was right upper and lower limb weakness. Rest of the systemic examination was unremarkable.

Blood investigation

Hemoglobin 7 g/dl, total leukocyte count - 8900 (P60 L38 M2), erythrocyte sedimentation rate 23 mm in 1 st h, peripheral blood smear did not show any abnormal cells. Kidney function test and liver function test were normal. The Mantoux test was negative.

X-ray chest [Figure 1]a] showed a homogeneous opacity in the right hemithorax. Contrast-enhanced computed tomography chest [Figure 1]b] revealed right upper mediastinal mass (10.2 cm × 12.1 cm), which was compressing SVC and the collateral vessels. There were multiple bilateral enlarged supraclavicular, axillary, and internal thoracic lymph nodes. Magnetic resonance imaging spine revealed metastatic involvement of multiple cervical thoracic and lumbar vertebrae, extradural metastasis causing compressive myelopathy of spinal cord at various levels. Ultrasound abdomen revealed hepatomegaly with coarse echotexture.
Figure 1: (a) Homogeneous opacity (tumor mass) in the right hemithorax. (b) Superior vena compression by tumor mass (blue arrow) and developed collateral vessels noted (yellow arrow)

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Mediastinal mass biopsy showed uniform, round to oval shape tumor cells with scant cytoplasm and round to oval nucleus, fine granular chromatin, and inconspicuous nucleus. Occasional perivascular pseudo rosette was seen [Figure 2]. Immunohistochemistry revealed positive staining for MIC2 (CD99), synaptophysisn and vimentin. Chromosomal analysis to detect translocations t(11;22)(q24;q12) could not be performed due to unavailability of the facility in our institute. The diagnosis of mediastinal PNET was confirmed on the basis of morphologic characteristics and the immunohistochemistry.

Patient presented with large intrathoracic PNET mass with local spinal invasion, and was considered nonresectable. Child was put on chemotherapy (vincristine, dactinomycin, adriamycin, iphosphamide, and etoposide). Radiotherapy could not be given due to of nonavailability at emergency. She developed severe pancytopenia during the course of chemotherapy and her condition further deteriorated and she died after 1 month of admission.
Figure 2: Tumor cells of uniform round to oval shape with scant cytoplasm and round to oval inconspicuous nucleus with occasional perivascular pseudo rosette formation noted (H and E, ×200)

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  Discussion Top

Family of Ewing's sarcoma tumors includes classical Ewing's sarcoma (osseous origin), atypical Ewing's sarcoma (extraosseous) and PNET. [2] pPNET usually originates from the chest wall, head and neck, retroperitoneum, pelvis, and extremities. [6] pPNET of the chest wall (Askin tumor) is a rare malignant tumor. [2],[3] Askin tumor is now considered the same as PNET as no histological difference has been noted between Askin and nonthoracopulmonary PNET. [2] The common presentation in patients of PNET of the chest wall is chest pain, respiratory distress or a chest wall mass. [2],[3],[4]

Kushner et al. have reported 54 patients of PNET, out of which 33.3% tumor arose from the chest wall. [7] Kennedy et al. reported similar findings. [8] About 25% of PNET patients have pulmonary involvement either alone or in combination with a chest wall mass.

Histologically, PNETs are characterized by a sheet of small round blue cells that react positively to glycoprotein p30/32 MIC2 (CD99). Homer-Wright pseudorossettes are a characteristic histological finding in PNETs. PNET has been described as a highly aggressive neoplasm. Better survival rates have been achieved with adjuvant and neoadjuvant chemotherapy, local surgical resection and localized radiotherapy. Patients with localized tumors are reported to have overall 5 years survival rate of 60%. [9]

Antibodies such as HBA-71 MIC2 (12E7) antigen and O13 that recognize the cell surface antigen defined by the clusters of CD99 are of great value in making diagnosis of PNET. [10] CD99 though not specific for PNET, is almost always present in these tumors.

Patient described here showed typical histological and immunohistochemical features of PNET. This patient presented with massive mediastinal mass compressing SVC.

Gupta et al. have reported lymphoma as the most common cause of SVCS and non-Hodgkin's lymphoma contributed more cases than Hodgkin's disease. [11]

Another study demonstrated all the cases of SVCS had a malignant etiology. T-cell acute lymphoblastic leukemia was the most common cause followed by lymphoma. [12] The prognosis of the mediastinal PNET is related to its anatomical spread to the adjacent structures. Involvement of bone, pleura and epidural space is considered a bad prognostic factor for survival especially in younger patients. [6]

The accepted protocol for the management of this tumor is neoadjuvant chemotherapy followed by surgical excision of the tumor followed by postoperative chemotherapy with or without radiotherapy. [2],[4],[13],[14] The neoadjuvant chemotherapy helps in better local control of the tumor, less extensive surgery and treats the distant microscopic metastasis. Most protocols prescribe a combination chemotherapy which includes vincristine, dactinomycin, cyclophosphamide and doxorubicin. Other drugs used in the majority of patients are ifosfamide and etoposide. [2],[4],[13],[14]

Thoracic PNET must be kept in differential diagnosis of SVCS in children as early detection and prompt treatment may prove life saving for these patients.

  References Top

1.Askin FB, Rosai J, Sibley RK, Dehner LP, McAlister WH. Malignant small cell tumor of the thoracopulmonary region in childhood: A distinctive clinicopathologic entity of uncertain histogenesis. Cancer 1979;43:2438-51.  Back to cited text no. 1
2.van den Berg H, van Rijn RR, Merks JH. Management of tumors of the chest wall in childhood: A review. J Pediatr Hematol Oncol 2008;30:214-21.  Back to cited text no. 2
3.Shamberger RC, Grier HE. Chest wall tumors in infants and children. Semin Pediatr Surg 1994;3:267-76.  Back to cited text no. 3
4.Christiansen S, Semik M, Dockhorn-Dworniczak B, Rötker J, Thomas M, Schmidt C, et al. Diagnosis, treatment and outcome of patients with Askin-tumors. Thorac Cardiovasc Surg 2000;48:311-5.  Back to cited text no. 4
5.Reali A, Mortellaro G, Allis S, Trevisiol E, Anglesio SM, Bartoncini S, et al. A case of primary mediastinal Ewing's sarcoma/primitive neuroectodermal tumor presenting with initial compression of superior vena cava. Ann Thorac Med 2013;8:121-3.  Back to cited text no. 5
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6.Jürgens H, Bier V, Harms D, Beck J, Brandeis W, Etspüler G, et al. Malignant peripheral neuroectodermal tumors. A retrospective analysis of 42 patients. Cancer 1988;61:349-57.  Back to cited text no. 6
7.Kushner BH, Hajdu SI, Gulati SC, Erlandson RA, Exelby PR, Lieberman PH. Extracranial primitive neuroectodermal tumors. The Memorial Sloan-Kettering Cancer Center experience. Cancer 1991;67:1825-9.  Back to cited text no. 7
8.Kennedy JG, Eustace S, Caulfield R, Fennelly DJ, Hurson B, O'Rourke KS. Extraskeletal Ewing's sarcoma: A case report and review of the literature. Spine (Phila Pa 1976) 2000;25:1996-9.  Back to cited text no. 8
9.Nesbit ME Jr, Gehan EA, Burgert EO Jr, Vietti TJ, Cangir A, Tefft M, et al. Multimodal therapy for the management of primary, nonmetastatic Ewing's sarcoma of bone: A long-term follow-up of the First Intergroup study. J Clin Oncol 1990;8:1664-74.  Back to cited text no. 9
10.Okamoto S, Hisaoka M, Daa T, Hatakeyama K, Iwamasa T, Hashimoto H. Primary pulmonary synovial sarcoma: A clinicopathologic, immunohistochemical, and molecular study of 11 cases. Hum Pathol 2004;35:850-6.  Back to cited text no. 10
11.Gupta V, Ambati SR, Pant P, Bhatia B. Superior vena cava syndrome in children. Indian J Hematol Blood Transfus 2008;24:28-30.  Back to cited text no. 11
12.Arya LS, Narain S, Tomar S, Thavaraj V, Dawar R, Bhargawa M. Superior vena cava syndrome. Indian J Pediatr 2002;69:293-7.  Back to cited text no. 12
13.Shamberger RC, Laquaglia MP, Krailo MD, Miser JS, Pritchard DJ, Gebhardt MC, et al. Ewing sarcoma of the rib: Results of an intergroup study with analysis of outcome by timing of resection. J Thorac Cardiovasc Surg 2000;119:1154-61.  Back to cited text no. 13
14.Shamberger RC, LaQuaglia MP, Gebhardt MC, Neff JR, Tarbell NJ, Marcus KC, et al. Ewing sarcoma/primitive neuroectodermal tumor of the chest wall: Impact of initial versus delayed resection on tumor margins, survival, and use of radiation therapy. Ann Surg 2003;238:563-7.  Back to cited text no. 14


  [Figure 1], [Figure 2]


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