|Year : 2019 | Volume
| Issue : 3 | Page : 158-161
Alveolar soft part sarcoma metastasizing to the brain: A rare entity revisited with review of recent literature
Singh Mathuria Kaushal-Deep, Uday Singh Raswan, Altaf Rehman Kirmani, Abdul Rashid Bhat, Irfan Hussain Bhat
Department of Neurosurgery, Sher-i-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, Jammu and Kashmir, India
|Date of Submission||08-Apr-2019|
|Date of Decision||26-May-2019|
|Date of Acceptance||27-Jun-2019|
|Date of Web Publication||27-Sep-2019|
Dr. Singh Mathuria Kaushal-Deep
Department of Neurosurgery, Sher-i-Kashmir Institute of Medical Sciences (SKIMS), Soura, Srinagar 190011, Jammu and Kashmir.
Source of Support: None, Conflict of Interest: None
| Abstract|| |
A 20-year-old male patient presented with a recent history of two episodes of seizures and Glasgow Coma Scale of E3V3M6. He was drowsy at presentation with bradycardia. On further examination, he was found to be having a 10 × 6cm well-circumscribed mass in the right medial thigh whose fine needle aspiration cytology was suggestive of soft tissue sarcoma. Contrast-enhanced magnetic resonance imaging brain showed enhancing lobulated lesions in bilateral hemispheres with significant edema. A decision to decompress the intracranial space occupying lesion was taken. Left-sided larger brain lesions underwent total gross excision followed by excision of the thigh mass. Histopathology of brain lesion was suggestive of metastatic deposits of alveolar soft part sarcoma, whereas the thigh mass was suggestive of alveolar soft part sarcoma grade 2 according to Fédération Nationale des Centres de Lutte Contre Le Cancer grading system. Postoperative course of the patient was unremarkable and his general condition improved remarkably (Functional Assessment of Cancer Therapy–Brain version 4 score improvement >50% at 1 month). He is in follow-up for the last 12 months and currently has completed chemoradiotherapy and is living a self-sufficient life. Though patients with aforementioned rare diagnosis have overall poor prognosis, decompressive craniotomy with metastasectomy may improve the overall quality of life of such young patients, and further chemoradiotherapy may help in prolonging life with acceptable level of comorbidity. This case is being discussed here in terms of the rarity of the final diagnosis, the management strategy used, and the quality of life improvement.
Keywords: Alveolar soft part sarcoma, brain metastasis, chemoradiotherapy, decompressive craniotomy, lung metastasis, metastasectomy
|How to cite this article:|
Kaushal-Deep SM, Raswan US, Kirmani AR, Bhat AR, Bhat IH. Alveolar soft part sarcoma metastasizing to the brain: A rare entity revisited with review of recent literature. J Pediatr Neurosci 2019;14:158-61
|How to cite this URL:|
Kaushal-Deep SM, Raswan US, Kirmani AR, Bhat AR, Bhat IH. Alveolar soft part sarcoma metastasizing to the brain: A rare entity revisited with review of recent literature. J Pediatr Neurosci [serial online] 2019 [cited 2020 Feb 20];14:158-61. Available from: http://www.pediatricneurosciences.com/text.asp?2019/14/3/158/267990
| Introduction|| |
A young boy presenting with brain metastasis is being presented here who was found to be having a firm mass in the right thigh. This case is being discussed here in terms of the rarity of the final diagnosis, the management strategy used, and the quality of life improvement.
| Case Report|| |
A 20-year-old male patient with body mass index of 21.3 presented to us with a recent history of two episodes of seizures and Glasgow Coma Scale of E3V3M6 (12/15). He was drowsy at presentation with bradycardia. His non-contrast computed tomographic scan of head was suggestive of bilateral parietal intracranial space occupying lesions (ICSOL) (left > right) with surrounding vasogenic edema. He was immediately started on intravenous decongestants and steroids. His Functional Assessment of Cancer Therapy–Brain (FACT-Br) version 4 score at presentation was calculated to be 132. This represented significant overall morbidity and disability. On further examination, the patient was found to be having a 10 × 6cm well-circumscribed mass in the right medial thigh whose fine needle aspiration cytology was suggestive of soft tissue sarcoma. Contrast enhanced magnetic resonance imaging (CEMRI) brain showed enhancing lobulated lesions in bilateral hemispheres (left approximately 5cm and right approximately 2cm) with significant edema and midline shift [Figure 1]. The lesions were hypointense on T1-weighted images and hyperintense on T2-weighted images with contrast enhancement with fluid-attenuated inversion recovery sequences showing significant peri-tumoral vasogenic brain edema causing midline shift of approximately 9 mm. A decision to decompress the ICSOL was taken. Left-sided larger brain lesions underwent total gross excision followed by excision of the thigh mass. Histopathology of brain lesion was suggestive of metastatic deposits of alveolar soft part sarcoma (ASPS), whereas the thigh mass was suggestive of ASPS grade 2 according to Fédération Nationale des Centres de Lutte Contre Le Cancer grading system [Figure 2]. Immunohistochemical staining showed diffuse nuclear immunoreactivity to transcription factor E3 (TFE3) and vimentin. No chromosomal study was conducted on the resected specimen. Postoperative course of the patient was unremarkable and his general condition improved remarkably. His FACT-Br score at 1-week post-surgery was 97 and at 1 month was 58. He improved significantly on all scales, that is, physical, mental, emotional, and social well-being. He was living a self-sufficient life and doing all his daily chores himself at 1-month follow-up. He was also detected with right pulmonary metastasis at 1-month post-surgery before chemoradiotherapy (CRT) was being instituted. These pulmonary lesions were not detected at initial workup. The patient developed hydrocephalus at the 4th month of follow-up with gross dilatation of ventricle on the operated side for which he underwent medium pressure ventriculoperitoneal shunting. He is in follow-up for the last 12 months and has completed receiving CRT. No recurrence of the primary lesion of thigh nor any new lesion in the brain is observed. The unoperated metastasis on the right side of brain has >75% reduction. The pulmonary lesions have also reduced by >90%. The patient has recovered from the untoward effects of CRT and is currently involved actively in his family profession of cattle-rearing and walnut merchandise business.
|Figure 1: CEMRI brain showing enhancing lobulated lesions in bilateral hemispheres with significant edema and midline shift|
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|Figure 2: Uniform, organoid nests of polygonal tumor cells, separated by fibrovascular septa and delicate capillary-sized vascular pattern (pseudoalveolar pattern)|
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| Discussion|| |
ASPS is a rare soft-tissue tumor, which constitutes <1% of all sarcomas. Christopherson et al. coined this term ASPS when they first described 12 cases with unique histological and cytological features in 1952. It is primarily a tumor of young adults (peak age incidence, 15–35 years) and a higher incidence is noted among females; though Tao et al. noted a preponderance of males with a male to female ratio of 3:1 in their review of eight cases. The majority of the patients with ASPS had their primary tumors in the lower limbs (especially thigh and buttocks) and showed right-sided laterality as was with our case. However, ASPS has been shown to arise from oral cavity, pharynx, tongue, mediastinum, and sometimes from pulmonary vein, stomach, retroperitoneum, uterus, vagina, and orbit., The site of tumor origin remains elusive, with either myogenic or neurogenic origins currently proposed., Ahn et al. reported that ASPS frequently metastasizes primarily to the lungs (42%), bones (19%), brain (15%), and lymph nodes (7%). The appearances of the brain metastases of ASPS differ significantly from that of brain metastases originating from lung and breast carcinomas. On computed tomography (CT) scan, the primary and metastatic ASPS shows a rich vascularity, with large vessels being a prominent feature of the tumor. Tumor invasion of blood vessels with central non-enhancement depicting necrosis is frequently seen on CT images. On MRI, ASPS typically presents as hyperintense T1-weighted and T2-weighted images with avid enhancement on contrast, with or without a non-enhancing, necrotic core., The brain lesions are hypointense on T1-weighted images and hyperintense on T2-weighted images with contrast enhancement in our case. Metastatic ASPS is a differential diagnosis for hemorrhagic intracranial metastases in young patients, alongside other more common conditions, such as meningioma, renal cell carcinoma, paraganglioma, granular cell tumor, and choriocarcinoma.,,
Genetic studies have shown that ASPS occurs as a result of an unbalanced translocation between chromosomes X and 17, der(17)t(X:17)(p11; p25).,, This translocation leads to fusion of the ASPL gene on chromosome 17 and the TFE3 gene on the X chromosome. Consequently, the C-terminus of TFE3 is considered to be a highly specific sensitive marker for ASPS., Our case was also found to be positive for staining for TFE3 and vimentin. Of all the sarcomas, ASPS has been found to have the highest incidence of brain metastasis (19%–30%),, which may, in part, be explained by its high propensity for hematogenous spread.
Surgical excision with an attempt at obtaining tumor-free margins is considered as the treatment of choice for both primary tumors and metastatic tumors in the brain and lung in case of ASPS., The aggressive removal of all accessible brain lesions is recommended in patients with ASPS who are not terminally ill, which can ensue a particularly favorable prognosis. In our case, we did decompression of the larger lesion on the left side only as it was the cause of the patient’s poor neurological status. This markedly improved his general condition as mentioned earlier. We also achieved an R0 resection of the primary thigh lesion. Pulmonary lesions in right lower lobe were detected later, which we planned to tackle by CRT after reviewing the patient in our tumor board meeting. Radiotherapy is recommended following surgical excision., Palliative radiotherapy is considered appropriate for patients with multiple brain metastases or other coexisting extracranial pathology. Our patient also received the same in divided fractions loco-regionally to all the affected parts. The use of chemotherapy has been debated for ASPS;, however, our patient is currently receiving doxorubicin-based chemotherapy with good results. We have been aggressive regarding the treatment by CRT as patient has shown excellent response and currently able to perform all his daily chores on his own. A number of clinical trials are currently investigating novel targeted therapies for the treatment of ASPS. Some trials are focusing on the overactivity of the mesenchymal to epithelial transition receptor tyrosine kinase gene induced by the ASPSCR1-TFE3 fusion protein. Moreover, there may be a potential therapeutic role for antiangiogenic drugs due to the highly vascularized nature of this tumor.
ASPS behaves as a relatively indolent but unrelenting sarcoma, being characterized by late metastases and an extended clinical trajectory. A 5-year disease-free survival of 71% with localized disease as compared with only 20% in patients presenting with metastases has been reported by Portera et al. ASPS has a propensity to recur or metastasize late with cases described to have metastasized even 20 years after treatment. ASPS often metastasizes to the lungs, bones, and brain., Hence, a life-long follow-up may be required for early detection of such recurrences of metastases.
| Conclusion|| |
To conclude, multiple brain metastases in a case of ASPS must not be considered a contraindication for partial tumor decompression. Due consideration should be given to excise a brain lesion, which is particularly symptomatic with aggressive CRT follow-up in young patients to achieve extended disease-free survival and to improve the quality of life.
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Conflicts of interest
There are no conflicts of interest.
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