Multimodal treatment of an extremely rare desmoplastic small round cell tumor primary to the brachial plexus – A case report and review of literature
- Division of Neurosurgery - Department of Surgery, Gaffrée e Guinle University Hospital, Federal University of the State of Rio de Janeiro, Rio de Janeiro, Brazil,
- Gaffrée e Guinle University Hospital, Federal University of the State of Rio de Janeiro, Rio de Janeiro, Brazil,
- Pathology Department, Antônio Pedro University Hospital, Fluminense Federal University, Niterói, Rio de Janeiro, Brazil,
- A. C. Camargo Câncer Center, São Paulo, São Paulo, Brazil.
José Fernando Guedes-Corrêa
A. C. Camargo Câncer Center, São Paulo, São Paulo, Brazil.
DOI:10.25259/SNI-291-2019Copyright: © 2019 Surgical Neurology International This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
How to cite this article: José Fernando Guedes-Corrêa, Rogério Pires Amorim, Maristella Reis da Costa Pereira, Rodrigo Salvador Vivas Cardoso, Felipe D’Almeida Costa, Bruno de Souza Bianchi, Ana Caroline Siquara-de-Souza. Multimodal treatment of an extremely rare desmoplastic small round cell tumor primary to the brachial plexus – A case report and review of literature. 15-Jul-2019;10:140
How to cite this URL: José Fernando Guedes-Corrêa, Rogério Pires Amorim, Maristella Reis da Costa Pereira, Rodrigo Salvador Vivas Cardoso, Felipe D’Almeida Costa, Bruno de Souza Bianchi, Ana Caroline Siquara-de-Souza. Multimodal treatment of an extremely rare desmoplastic small round cell tumor primary to the brachial plexus – A case report and review of literature. 15-Jul-2019;10:140. Available from: http://surgicalneurologyint.com/surgicalint-articles/9481/
Background: Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive malignant neoplasm typically located in the abdomen or pelvis. Other possible locations are the chest, pleura, scrotum, and central nervous system. DSRCT originally arising from the brachial plexus (BP) is extremely rare, to the best of our knowledge, only two cases have been previously described in the English scientific literature.
Case Description: The authors present one new case of DSRCT arising from the left BP, the first in this location with rapid progression and in a female patient. We also highlight the importance of multimodal therapy, which included resection and both adjuvant radiation and chemotherapy. Macroscopic and microscopic characteristics of the lesion are detailed, as well as the patient’s status at 56-month follow-up.
Conclusion: For primary BP DSRCT, aggressive subtotal resection followed by radiation and chemotherapy can be satisfactory for disease control and for maintaining or improving the neurological status.
Keywords: Brachial plexus, Desmoplastic small round cell tumor, EWS1-WT1 fusion protein, Medical oncology, Surgical oncology
Desmoplastic small round cell tumor (DSRCTs) is rare and aggressive malignant neoplasms, characterized by proliferation of small round tumor cells and abundant desmoplastic stroma. Multiphenotypic differentiation is observed by immunohistochemistry.[
The immunohistochemical profile of DSRCT is specific and shows expression of proteins associated with epithelial, muscular, and neural differentiation. On the other hand, employing immunohistochemistry for the diagnosis of malignant peripheral nerve sheath tumor (MPNST) remains very limited. It must be noted that DSRCT has a specific profile, quite different from MPNST.[
To date, only two cases of DSRCT arising from the brachial plexus (BP) have been described, one each by Mathys et al.[
A 42-year-old woman was referred to our service with an intensely painful, progressively growing mass in her left armpit. This lesion had been noted for about 5 months, compromising her routine activities and sleeping. Worsening muscular weakness was also observed. An open biopsy of the mass had been undertaken elsewhere 3 months earlier, yielding inconclusive results. After that procedure, the patient’s pain intensified dramatically, followed by deterioration in motor strength over the next 3 months. She rated her pain as 9 on a 10-point visual analog scale (VAS).[
General clinical examination was normal, including breast examination. On palpation, the mass in the medial region of the upper arm and axilla was extremely tender and firmly fixed to surrounding tissue. Marked lymphedema of the whole limb was observed.
On neurological examination, a positive Tinel’s sign was present, radiating toward the left hand. Profound BP palsy was observed, involving multiple nerves and including weakness in key muscle groups. This was graded as M0 arm abduction, M1 elbow flexion, M2 wrist extension, M2 finger extension, and M0 intrinsic musculature strength, as per the British Medical Research Council muscle strength rating scale.[
Computerized tomography (CT) of the thorax, abdomen, and pelvis was performed, yielding no evidence of tumor. This raised suspicion that the tumor primarily arose within or from the BP or adjacent tissues. Thus, we considered the differential diagnosis of a neurogenic tumor or a sarcoma of the plexus region. Magnetic resonance imaging (MRI) revealed a solid, irregular mass with a heterogeneous hyperintense signal on T2-weighted images, measuring approximately 5.3 × 3.8 × 6.2 cm in the left BP region, with clear involvement of both vascular and neural structures. Contrast enhancement revealed uptake in several lymph nodes, presumed secondary to metastatic spread [
A classic infraclavicular BP approach was employed, extending to the axilla and proximal arm along to the bicipital sulcus. The pectoralis major muscle was retracted medially, and the deltoid muscle retracted laterally as to expose the clavico-deltopectoral triangle, by which, through sectioning of the pectoralis minor muscle underneath, we could progressively expose the mass. We observed that it originated from the lateral division of the upper trunk of the left BP, invading surrounding structures and adhering to other BP elements, including the axillary/brachial artery and veins [
Photograph taken during subtotal surgical resection of the lesion, showing the musculocutaneous nerve (black arrow), median nerve (white arrow), and antebrachial medial cutaneous nerve (white arrowhead), all liberated from the tumor, while the brachial artery (under the median nerve, circled by the red loop) still enveloped by tumor.
At a macroscopic level, the resected tumor fragments together weighted 300 g and all had a firm consistency [
The patient experienced an almost immediate reduction in her pain from 9/10 preoperatively to 3/10 postoperatively using the VAS pain rating scale.[
Chemotherapy was pursued with a protocol as follows: four courses, with 3-week intervals between each, of cisplatin (120 mg/m2 for 2 days) and doxorubicin (30 mg/m2/day for 2 days). Adjuvant local radiotherapy (RT) was administered to a cumulative dose of 65 Gy, fractionated in 16 sessions over 3 weeks. Further, reduction in pain was observed.
The patient was monitored through regular consultations, initially monthly during the chemotherapy and RT, then every 3 months, and lately every 4 months in our outpatient facility. Initially, the surveillance schedule for the patient was a CT of thorax and abdomen every 3 months, then every 6 months, and now annually. During follow-up, 2 months after surgery, two new lung lesions, not observed at the presurgical staging, were detected by CT, one in each pulmonary apex, both considered metastatic. Due to the fact that their discovery was made during the chemotherapy course, the responsible oncologist decided to keep to the chemotherapy and RT schemes previously outlined, and, if needed, will consider further chemotherapy doses. However, both lesions disappeared after radiation and chemotherapy.
Fifty-six months after treatment, she continues to report sporadic neuropathic pain in her hand (VAS = 2)[
Last MRI, 4 months ago, depicted a residual mass in the axilla. Lymph node involvement and lymphedema had diminished, and both lesions previously detected in her lungs remained absent.
Since DSRCTs were first described in 1989 by Gerald and Rosai,[
In both cases of BP-DSRCT described previously, the patients were male and the time from initial symptoms to diagnosis was prolonged over several years, due both to a slowly growing mass and initially negative or equivocal investigations.[
Miwa et al.[
Multiple firm nodules with areas of hemorrhage and necrosis characterize DSRCT macroscopically. Microscopically, the tumor consists of solid nests of varying size of round or oval malignant cells, combined with vascularized desmoplastic stroma. The cells are uniform with small, round, and vesicular or hyperchromatic nuclei, inconspicuous nucleoli, and small amounts of cytoplasm. Areas of necrosis and many mitoses are common.[
The estimated 5-year survival rate for any DSRCT is about 15%.[
We believe that our experience supports MMT for DSRCTs by combining function-preserving subtotal resection followed by chemotherapy and RT of the BP, which resulted in prolonged survival.
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.
There are no conflicts of interest.
1. Ariza-Prota MA, Pando-Sandoval A, Fole-Vázquez D, Casan P. Desmoplastic small round cell tumor of the lung: A case report and literature review. Respir Med Case Rep. 2015. 16: 112-6
2. Barnoud R, Sabourin JC, Pasquier D, Ranchère D, Bailly C, Terrier-Lacombe MJ. Immunohistochemical expression of WT1 by desmoplastic small round cell tumor: A comparative study with other small round cell tumors. Am J Surg Pathol. 2000. 24: 830-6
3. Fisher C, Montgomery E, Khin T.editorsBiopsy Interpretation of Soft Tissue Tumors. Philadelphia: Lippincott Williams and Wilkins; 2011. p.
4. Fletcher CD, Bridge JA, Hogendoorn PC, Mertens F.editorsWorld Health Organisation Classification of Tumours: Tumours of Soft Tissue and Bone. Geneva: WHO Press; 2013. p.
5. Gerald WL, Miller HK, Battifora H, Miettinen M, Silva EG, Rosai J. Intra-abdominal desmoplastic small round-cell tumor. Report of 19 cases of a distinctive type of high-grade polyphenotypic malignancy affecting young individuals. Am J Surg Pathol. 1991. 15: 499-513
6. Gerald WL, Rosai J. Case 2. Desmoplastic small cell tumor with divergent differentiation. Pediatr Pathol. 1989. 9: 177-83
7. Goldblum JR, Folpe AL, Weiss SW, Goldblum JR, Folpe AL, Weiss SW.editors. Malignant soft tissue tumors of uncertain type. Enzinger and Weiss’s Soft Tissue Tumors. Philadelphia: Saunders; 2013. p.
8. Kallianpur AA, Shukla NK, Deo SV, Yadav P, Mudaly D, Yadav R. Updates on the multimodality management of desmoplastic small round cell tumor. J Surg Oncol. 2012. 105: 617-21
9. Lae ME, Roche PC, Jin L, Lloyd RV, Nascimento AG. Desmoplastic small round cell tumor: A clinicopathologic, immunohistochemical, and molecular study of 32 tumors. Am J Surg Pathol. 2002. 26: 823-35
10. Mathys J, Vajtai I, Vögelin E, Zimmermann DR, Ozdoba C, Hewer E. Desmoplastic small round cell tumor: A rare cause of a progressive brachial plexopathy. Muscle Nerve. 2014. 49: 922-7
11. McCormack HM, Horne DJ, Sheather S. Clinical applications of visual analogue scales: A critical review. Psychol Med. 1988. 18: 1007-19
12. Medical Research Council.editors. Aids to the Investigation of Peripheral Nerve Injuries. War Memorandum No. 7. London: HMSO; 1943. p. 1-2
13. Miwa S, Kitamura S, Shirai T, Hayashi K, Nishida H, Takeuchi A. Desmoplastic small round cell tumour successfully treated with caffeine-assisted chemotherapy: A case report and review of the literature. Anticancer Res. 2010. 30: 3769-74
14. Neder L, Scheithauer BW, Turel KE, Arnesen MA, Ketterling RP, Jin L. Desmoplastic small round cell tumor of the central nervous system: Report of two cases and review of the literature. Virchows Arch. 2009. 454: 431-9
15. Stopyra GA. Desmoplastic small round cell tumor of the lung. Arch Pathol Lab Med. 2003. 127: 782-
16. Ud Din N, Pekmezci M, Javed G, Horvai AE, Ahmad Z, Faheem M. Low-grade small round cell tumor of the cauda equina with EWSR1-WT1 fusion and indolent clinical course. Hum Pathol. 2015. 46: 153-8