Undifferentiated testicular pleomorphic sarcoma: A case report

Abstract

BACKGROUND

Genitourinary sarcomas include testicular sarcomas and are the most common subtype of sarcoma within the genitourinary system. Undifferentiated pleomorphic sarcoma is a subtype of soft tissue sarcomas that may affect the extremities and retroperitoneum. However, the presence within the testicle is rare. Here, we present a case of an undifferentiated testicular pleomorphic sarcoma, which will explore the presentation and treatment of a rare type of testicular cancer.

CASE SUMMARY

Here we present a 56-year-old male who comes to the urology clinic for left testicular swelling. The patient then underwent left radical orchiectomy via an inguinal approach for a left testicular mass seen on examination and on scrotal ultrasound. Pathology revealed undifferentiated pleomorphic sarcoma (Federation of the French Cancer Centres grade 3), 9.5 cm in size, and it was limited to the testicle. The surgical margins were negative. A follow-up positron emission tomography computed tomography scan was obtained, which showed no evidence of hypermetabolic lymph nodes or masses in the abdomen or pelvis.

CONCLUSION

Testicular sarcomas are a rare type of soft tissue sarcoma. The standard treatment of the testicular mass usually begins with radical inguinal orchiectomy. Patients with scrotal sarcomas are at high risk of local and distant recurrence, emphasizing the importance of surgical excision and wide margins. There is little studied regarding the integration of radiotherapy and chemotherapy for these cases as neoadjuvant or adjuvant therapies. This case highlights the presentation and treatment of a patient with a rare phenotype of testicular pleomorphic sarcoma treated by radical inguinal orchiectomy. In this study, our patient continued without nodal or distant disease in his initial positron emission tomography computed tomography scan after surgery.

Key Words: Urology and oncology; Orchiectomy; Testicular cancer; Genitourinary sarcoma; Case report

Core Tip: Testicular sarcomas are a rare type of soft tissue sarcoma. The standard treatment of the testicular mass usually begins with radical inguinal orchiectomy. Patients with scrotal sarcomas are at high risk of local and distant recurrence, emphasizing the importance of surgical excision and wide margins. There is little studied regarding the integration of radiotherapy and chemotherapy for these cases as neoadjuvant or adjuvant therapies. This case highlights the presentation and treatment of a patient with a rare phenotype of testicular pleomorphic sarcoma treated by radical inguinal orchiectomy.

INTRODUCTION

Testicular sarcomas are the most common subtype of sarcoma within the genitourinary system[1]. Testicular sarcomas are rare, accounting for approximately 1% of soft tissue sarcomas[1]. Undifferentiated pleomorphic sarcoma is a subtype of soft tissue sarcomas that may affect the extremities and retroperitoneum[2]. However, the presence of this subtype within the testicle is rare[3]. Patients usually present with a scrotal or testicular mass and painless scrotal swelling. These sarcomas may behave aggressively, prompting the need for early detection and multidisciplinary treatment[4]. The treatment will usually include surgical resection of the tumor and obtaining negative margins when able[5]. Here we present a case of an undifferentiated pleomorphic testicular sarcoma. This case will explore the presentation and treatment of this rare type of testicular cancer.

CASE PRESENTATION

Chief complaints

This case is of a 56-year-old male who presents to the urology clinic for left testicular swelling.

History of present illness

The patient initially presented to the clinic for left testicular swelling. He denied any pain in the testicular region. The patient reported the mass increased in size over the last month.

History of past illness

The patient denies any significant past medical history.

Personal and family history

The patient denies any significant family history or personal history of prior medical or surgical disease.

Physical examination

On examination, there was a mass appreciated in the left hemiscrotum that was not painful to palpation, and there were no overlying skin changes to the scrotum.

Laboratory examinations

Tumor markers were drawn and showed alpha-fetoprotein (AFP) 2.1 and human chorionic gonadotropin (hCG) < 5.

Imaging examinations

He initially underwent a scrotal ultrasound that showed an 8.8 cm × 6.1 cm × 7.8 cm hypervascular mass. The right testicle was normal on the ultrasound. Tumor markers were drawn and showed AFP 2.1 and hCG < 5. A staging computer tomography (CT) scan of the chest, abdomen, and pelvis with contrast was obtained and showed multiple solid pulmonary nodules that were indeterminate in nature. There were no other obvious signs of metastasis in the chest, abdomen, or pelvis.

FINAL DIAGNOSIS

The patient was diagnosed with a left testicular mass, and the plan was to proceed to the operating room for left radical orchiectomy.

TREATMENT

The patient then underwent left radical orchiectomy via an inguinal approach. Pathology revealed undifferentiated pleomorphic sarcoma (grade 3), 9.5 cm in size, and it was limited to the testicle (Figure 1A and B). The surgical margins were negative. His final pathological stage was pT1bNx. On pathologic staining, the pathology slides show a haphazardly growing sheet-like proliferation of spindle cells exhibiting marked nuclear pleomorphism. Additionally, large, bizarre, atypical forms and tumor giant cells were noted (Figure 1C and D). Tumor cells were stained negative for pankeratin, CK5/6, GATA binding protein 3, S100, CD30, CD117, octamer-binding transcription factor 3/4, inhibin, AFP, sal-like 4, desmin, murine double minute 2, and beta-hCG. Tumor cells show patchy positivity for vimentin on staining. Overall, these findings are compatible with an undifferentiated pleomorphic sarcoma.

Figure 1 Hematoxylin and eosin-stained pathology slides. A: Tumor cells show patchy positivity for vimentin and are negative for other markers such as pankeratin, CK5/6, GATA binding protein 3, etc. These findings are consistent with undifferentiated pleomorphic sarcoma. Magnification 10 ×; B: Final hematoxylin and eosin (HE) stained pathology slides showing pleomorphic sarcoma (Federation of the French Cancer Centres grade 3), 9.5 cm in size and was limited to the testicle. The tumor cells do not invade beyond the testicular layers, as shown. The surgical margins were therefore negative. Magnification 10 ×; C: On pathologic staining with HE, sections show haphazardly growing sheetlike proliferation of spindle cells exhibiting marked nuclear pleomorphism. This morphology was consistent with a pleomorphic sarcoma. Magnification 40 ×; D: HE-stained slides showing an example of the large, bizarre, atypical cellular forms and tumor giant cells noted with the diagnosis of sarcoma. Magnification 40 ×.

OUTCOME AND FOLLOW-UP

A follow-up positron emission tomography CT (PET-CT) scan was obtained based on the recommendations of medical oncology to better characterize the lung nodules seen on the initial CT scan. The PET-CT showed no evidence of hypermetabolic lymph nodes or masses in the abdomen or pelvis, and noted multiple sub-centimeter lung nodules with no tracer uptake. The patient was healing appropriately at his recent postoperative visit.

DISCUSSION

Testicular sarcomas are a rare type of soft tissue sarcoma[1]. These sarcomas may arise from the scrotum, epididymis, spermatic cord, and tunica vaginalis[6]. The standard treatment of the testicular mass usually begins with radical inguinal orchiectomy. Patients with scrotal and testicular sarcomas are at high risk of local and distant recurrence, emphasizing the importance of surgical excision and wide margins[7]. As noted in the National Comprehensive Cancer Network guidelines, obtaining appropriate oncological margins for these patients is important, and consideration for adjuvant therapies may be warranted[8]. Dotan et al[9] noted that unfavorable prognostic variables for genitourinary sarcomas include metastasis at presentation, high tumor grade, lack of leiomyosarcoma and liposarcoma elements, large tumor size, incomplete surgical resection, and positive surgical margins. The patient presented in this case underwent prompt radical inguinal orchiectomy after his tumor was diagnosed and had negative margins in the pathological specimen.

Although testicular sarcomas are rare, there are certain pathological characteristics that are specific to this tumor subtype. In this case, the pathology stains of the tumor showed sections with haphazardly growing sheetlike proliferation of spindle cells exhibiting marked nuclear pleomorphism. There were additionally large, bizarre, atypical forms and tumor giant cells noted, and patchy positivity for vimentin on staining. Prior studies report that pleomorphic sarcoma is composed of tissue-like cells and fibroblasts that are layered with pleomorphic and multinucleated giant cells[3]. The tumor cells may be mixed with spindle cells and round tissue cells, with potentially chronic inflammatory cells. Therefore, the pathological diagnosis in this case was consistent with pleomorphic sarcoma due to the presence of the spindle cells and pleomorphic cells[3]. Additionally, the cells in this case report were stained against several other markers. The tumor cells in the testicular specimen were negative for pankeratin, CK5/6, GATA binding protein 3, S100, CD30, CD117, octamer-binding transcription factor 3/4, inhibin, AFP, sal-like 4, desmin, murine double minute 2, and beta-hCG. However, the cells show patchy positivity for vimentin, which helped lead to the diagnosis of this tumor as a sarcoma. As reported in prior studies, common immunohistochemical examination may reveal tumor cell Ki67, vimentin, and CD68+ in the setting of these tumor subtypes[3,10]. These reported pathological molecular tissue markers are important in characterizing this rare tumor subtype.

Adjuvant techniques such as retroperitoneal lymph node dissections for these sarcoma cases remain controversial[11]. Some studies report high regional recurrence in subtypes of genitourinary sarcomas and may require retroperitoneal lymph node dissections, including those with rhabdomyosarcoma, fibrous histiocytoma, or fibrosarcoma elements[12]. However, regional nodal recurrence for paratesticular soft tissue sarcoma is rare[7]. Likewise, there is little studied regarding the integration of radiotherapy and chemotherapy for these cases as a neoadjuvant or adjuvant therapy[4]. However, some studies show improvement with radiation and chemotherapy in this patient cohort. Le Doussal et al[13] found that combined radiotherapy and chemotherapy reduced the risk of local recurrence and prolonged patient survival in those with pleomorphic sarcoma[13]. Additionally, Ülker et al[10] report no recurrence at 2-year follow-up for patients who received three courses of chemotherapy for pleomorphic sarcomas[10]. There still remains a gap in the literature and practice for these therapies in these patients; radical orchiectomy remains the important first step in the treatment pathway. There may eventually be a role for immunotherapy for the treatment of sarcomas[14]. In this study, our patient was followed postoperatively without nodal or distant disease as evidenced by his initial PET-CT scan after surgery. This follow-up PET-CT scan was obtained by medical oncology to better characterize the lung nodules seen on the initial CT scan. On PET-CT, there was no evidence of hypermetabolic lymph nodes or masses in the abdomen or pelvis, and the scan noted multiple sub-centimeter lung nodules with no tracer uptake. At this time, he has not received any adjuvant therapies.

Genitourinary sarcomas are a rare entity. The mainstay of treatment remains initial inguinal orchiectomy for those who present with a testicle. As previously reported, with adequate surgical treatment including complete surgical resection, patients may achieve prolonged disease-specific survival[9]. The patient in this study underwent a radical inguinal orchiectomy with negative margins. Pathology revealed testicular pleomorphic sarcoma. His initial tumor markers preoperatively were negative, and his postoperative PET-CT did not reveal concerns for metastatic disease. More research on this type of testicular cancer prevalence and the use of adjuvant and neoadjuvant therapy is warranted. The patient presented here will hopefully add to the existing literature by describing another case of this rare disease. We hope to highlight the importance of early radical surgery with negative margins if possible. The use of postoperative tumor markers and imaging will help guide the potential use of adjuvant therapies and monitoring for recurrence in these patients. Our patient, so far, remains without recurrence, which will hopefully prolong his survival.

CONCLUSION

This case highlights the presentation and treatment of a patient with a rare phenotype of testicular pleomorphic sarcoma treated by radical inguinal orchiectomy. His surgical margins were negative and follow up PET-CT did not reveal any occult metastatic disease. He is healing appropriately after surgery and has not received adjuvant or neoadjuvant therapy.