Background: Intrascrotal embryonal rhabdomyosarcoma in adults is a rare tumor with high aggression and a poor prognosis. We report our patient’s case and review the relevant literature to improve the understanding of this rare disease. Case presentation: A 21-year-old Han Chinese man presented to our hospital with a right intrascrotal mass of 1 year’s duration. His physical examination revealed an enlarged right scrotum containing a huge tender mass measuring about 10 × 7 cm. Ordinary and contrast-enhanced ultrasonography showed a solid mass in the right scrotum, which was suspected to be a malignant tumor. An abdominopelvic computed tomographic scan revealed metastases in the retroperitoneal lymph nodes. The patient was diagnosed with malignant testicular tumor and underwent a right radical orchiectomy by an inguinal approach. Postoperative pathological examination suggested an intrascrotal embryonal rhabdomyosarcoma. Conclusions: Intrascrotal embryonal rhabdomyosarcoma is a rare but highly aggressive tumor. Clinical and imaging manifestations of this tumor are nonspecific, so the definitive diagnosis depends on postoperative pathology and immunohistochemistry. Early suspicion, radical orchiectomy, accurate pathologic diagnosis, and adjuvant chemotherapy and/or radiotherapy are the keys to optimal prognosis. Keywords: Intrascrotal, Embryonal rhabdomyosarcoma, Adult Background Case presentation Rhabdomyosarcoma (RMS) is the most common soft tis- Our patient was a 21-year-old Han Chinese man who sue tumor in children, but it is rare in adults [1, 2]. had found a painless testicular mass in his right scrotum Intrascrotal tumors originate primarily from germ cells, 1 year before presentation to our hospital, for which he whereas non-germinal cell tumors are uncommon . had gone to another hospital for treatment. He received An adult patient admitted to our hospital had a giant no definite diagnosis there but was given a 1-week intrascrotal embryonal RMS. This report describes the Chinese herb decoction. Owing to the loss of the previ- pathogenesis, clinical manifestations, diagnosis, treat- ous case record, the suspected diagnosis and the names ment methods, and prognosis of intrascrotal embryonal of the herbs were unknown. He observed no obvious im- RMS in our patient’s case and in other cases previously provement. The mass remained small and unchanged reported in the literature, with the aim of improving the during the first 9 months of the disease course and understanding of this rare disease. therefore did not arouse the patient’s attention enough to seek further treatment. However, over the next 3 months, the mass enlarged rapidly and led to obvious right scrotal tenderness. Ultrasonography showed a solid space-occupying lesion measuring 9.7 × 7.7 cm in the * Correspondence: firstname.lastname@example.org; email@example.com Equal contributors right scrotum. The patient reported no obvious fever, Department of Andrology, Nanjing Drum Tower Hospital, The Affiliated osphyalgia, abdominal pain, frequent micturition, urgency, Hospital of Nanjing University Medical School, Nanjing 210008, China dysuria, or gross hematuria. Full list of author information is available at the end of the article © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. Gong et al. Journal of Medical Case Reports (2018) 12:149 Page 2 of 5 The patient was admitted to our andrology depart- tissue density shadows anterior to the right psoas (and at ment in October 2017. On admission, we took a full the level of the fourth lumbar vertebra), which were sus- medical history, including his personal and family his- pected to be metastases in the retroperitoneal lymph nodes tory as well as previous treatment of his testicular mass. (RPLNs) (Fig. 2). Both the physical examination and the im- He had no history of hypertension, hyperlipidemia, cor- aging results showed no abnormalities of the left testis, epi- onary heart disease, type 2 diabetes mellitus, traumas, or didymis, or spermatic cord. No significant abnormal signs surgeries, among others. He did not smoke tobacco or were found on chest x-ray film. consume alcohol, and he had no family history of The results of the patient’s complete blood count, testicular tumor. blood biochemistry, and urinalysis were all normal, The patient’s physical examination revealed unremark- except for a high lactate dehydrogenase concentration able vital signs (body temperature 37.1 °C, heart rate 70 (295 U/L). His α-fetoprotein (AFP; < 1.3 ng/ml) and beats/minute, blood pressure 120/65 mmHg, respiration human chorionic gonadotropin (HCG; < 0.1 mIU/ml) 17 breaths/minute), normal heart and lung sounds, and concentrations were within normal ranges. a soft abdomen with no tenderness or organomegaly. All these findings, taken together, indicated that the Urogenital palpation disclosed an enlarged right scrotum right intrascrotal mass was a malignant tumor. The with a hard, tender mass (~ 10 × 8 cm) adhering to the patient rejected retroperitoneal lymph node dissection right testis and epididymis, but no palpable masses in the (RPLND), but he underwent a right radical orchiectomy right spermatic cord or bilateral inguinal regions. The pa- by inguinal approach. Intraoperative pathology suggested tient’s neurological examination showed no abnormalities. a small cell carcinoma of the right testis. Color Doppler ultrasonography displayed a solid Postoperative pathology showed a giant (10 × 7 × 6 cm) intrascrotal mass (11.5 × 8.2 × 7.6 cm) with heteroge- intrascrotal tumor that involved the right testis, epididy- neous inner echoes and short linear blood vessel flow mis, and paratesticular tissues (Fig. 3). Microscopy showed signals at the mass periphery. Contrast-enhanced ultra- diffuse distribution of small round cells with obvious sonography (CEUS) (SonoVue contrast agent; Bracco atypia (Fig. 4). Tumor emboli were found in the surround- Diagnostics, Monroe Township, NJ, USA) showed a par- ing vessels. No nerve was infiltrated by the tumor tissue. tial enhancement that appeared mainly in the periphery The incisal edge of the right spermatic cord was negative. of the intrascrotal lesion during arterial phase; the lesion Immunohistochemistry showed the tumor tissue to be also showed an extensive interior filling defect. The negative for cytokeratin, calretinin, inhibin-α,placental enhanced part was irregular in form and contained alkaline phosphatase, lymphocyte common antigen, S100, coarse, twisted blood vessels (Fig. 1a-b). The CEUS re- anaplastic lymphoma kinase, α-smooth muscle actin, sults suggested a testicular germ cell tumor. Abdomino- CD34, and SOX10. Positive immunohistochemistry re- pelvic computed tomography (CT) revealed some soft sults were found for vimentin (+), CD56 (+++), myo- genin (+++), myoblast determination protein 1 (MyoD1) (++), desmin (+++), and Ki-67 (70%+) (Fig. 5). The histo- pathologic diagnosis was embryonal RMS. Fig. 1 a Contrast-enhanced Ultrasonographic images showing that the mass enhanced from the periphery at 25 seconds after the bolus injection of SonoVue contrast agent. The coarse nourishing blood Fig. 2 Computed tomographic scan displaying the suspicious vessels are clearly displayed. b The corresponding two-dimensional metastasis sites in the retroperitoneal lymph nodes (the soft tissue ultrasound shows the morphologically abnormal right testis with density shadows anterior to the right psoas and at the level of the heterogeneous internal echoes fourth lumbar vertebra) Gong et al. Journal of Medical Case Reports (2018) 12:149 Page 3 of 5 Fig. 5 A specific immunohistochemical result of rhabdomyosarcoma: desmin-positive tumor cells (immunohistochemical stain, original magnification × 200) Fig. 3 Gross specimen of the giant right intrascrotal tumor measuring 10 × 7 × 6 cm Discussion We present the medical history, diagnostic procedure, According to all the clinical, imaging, and pathologic and treatment of an adult patient with intrascrotal em- evidence, the tumor was finally diagnosed as an intras- bryonal RMS. Because few studies of intrascrotal embry- crotal embryonal RMS. Its exact origin was hard to onal RMS in adults are available, we hope that this case confirm, owing to its extensive invasion of testis, epi- report and the following literature review will contribute didymis, and paratesticular tissues. Because the patient to the understanding, diagnosis, and treatment of this rejected RPLND, we could not verify whether the tumor rare disease. had metastasized to the RPLNs. The patient is now RMS is one of the most common pediatric tumors, undergoing vincristine, actinomycin D, and cyclophos- comprising up to half of all soft tissue sarcomas [1, 2]. phamide (VAC) chemotherapy regimen, combined with However, adult RMS is relatively rare, accounting for abdominopelvic radiotherapy, at another hospital, which only 3% of all soft tissue sarcomas [1, 2]. In addition, was initiated 20 days after discharge from our depart- intrascrotal tumors originate primarily from germ cells; ment. We will continue to follow-up of our patient. non-germinal cell tumors are uncommon . According to the epidemiological characteristics of RMS and intras- crotal tumors, adult intrascrotal RMS is particularly rare. Intrascrotal RMS can originate from testis or from para- testicular tissues. Perhaps primary testicular RMS arises from undifferentiated mesenchyme that retains the capacity for rhabdomyoblastic differentiation or from embryonal muscle tissue that has been misplaced at the early stages of tissue development . Paratesticular RMS is thought to arise from the mesenchymal elements of the epididymis or spermatic cord . The typical clinical presentation of intrascrotal embry- onal RMS is a painless unilateral enlargement of the scrotum, usually over the course of a few weeks . Bilateral groins should be palpated to assess if the tumor has metastasized to inguinal lymph nodes. Ordinary ultrasonography and CEUS can help to differentiate between benign and malignant intrascrotal tumors and Fig. 4 Postoperative pathologic section (H&E stain, original to evaluate the tumor’s extent of infiltration [5, 6]. CT is magnification × 200) showing diffuse distribution of small round often used to look for RPLN metastases . However, all cells with obvious atypia the clinical presentations and imaging manifestations of Gong et al. Journal of Medical Case Reports (2018) 12:149 Page 4 of 5 intrascrotal embryonal RMS are not specific. Further- Postoperative chemotherapy and/or radiotherapy can more, serum biomarkers such as β-HCG and AFP are dramatically increase the survival rate of pediatric pa- also nonspecific for this kind of tumor . The limita- tients with RMS . Adjuvant chemotherapy is now tions of traditional diagnostic methods make accurate pre- recommended as a standard therapy for patients with surgical diagnosis of intrascrotal embryonal RMS difficult, RMS in all IRSG groups . Commonly used chemo- and definitive diagnoses therefore depend on postopera- therapeutic agents for RMS include VAC . Specific tive pathologic examination. Observation of the gross spe- chemotherapy regimens should be chosen according to cimen is the key to confirming the origin of the tumor . IRSG classification . Moreover, chemotherapy can In our patient, however, the tumor extensively involved downgrade unresectable tumors and create opportunities the testis, epididymis, and paratesticular tissues, so we for surgical treatment . However, the effect of chemo- could not determine its exact origin. Microscopic images therapy for adult patients is still controversial . of embryonal RMS are characterized by diffuse distribu- Hawkins et al. suggested that chemotherapy cannot pro- tion of small round cells with obvious atypia . How- vide a significant survival benefit to patients over 21 ever, intraoperative pathology suggested that the tumor in years old , whereas Ferrari et al. retrospectively ana- our patient was a testicular small cell carcinoma. This lyzed 171 adult patients with RMS and found that their indicates that embryonal RMS should be differentiated rate of response to chemotherapy was 85% . Al- from other tumors that are rich with small round cells, such though this rate was lower than that for children, it was as small cell carcinoma, neuroblastoma, or lymphoma. significantly higher than for other kinds of adult sarco- Immunohistochemical staining is now the optimal mas and indicated that chemotherapy is effective for diagnostic method for RMS , which is typically posi- adult patients with embryonal RMS. Radiotherapy for re- tive for one or more muscle-specific markers, including sidual lesions or regional lymph nodes is recommended desmin, muscle-specific actin, MyoD1, myoglobin, and/ only for patients with microscopic or macroscopic or myogenin [4, 12, 13]. In our patient, the tumor was remnant tumor tissue and/or metastasis sites; it cannot positive for desmin, myogenin, and MyoD1. On the basis bring obvious benefit to patients with IRSG group I dis- of these results and the microscopic images, the tumor ease . Although it is generally recognized that the was diagnosed as an intrascrotal embryonal RMS. experiences originating from the treatment of pediatric Because RMS rarely occurs in adults, treatments used in patients could bring benefits to adult cases, there are pediatric patients are often applied to adult cases. The still no evidence-based chemotherapy or radiotherapy standard treatment for intrascrotal embryonal RMS is rad- strategies for adult patients in each IRSG group, owing ical orchiectomy combined with adjuvant chemotherapy to the rarity of intrascrotal embryonal RMS in the adult and radiotherapy . The Intergroup Rhabdomyosarcoma population. As for follow-up strategies, patients with Study Group (IRSG) classifies embryonal RMS into four RMS should be monitored for tumor recurrence or me- groups by their pathologic margins and lymph node metas- tastasis and adverse effects related to operations, chemo- tasis status, and it recommends respective targeted treat- therapy, and/or radiotherapy just as for patients with ments . Therefore, RPLND is of great importance in other kinds of cancers . guiding postoperative therapy because it can confirm the Intrascrotal RMS has a poor prognosis . The 1-year appropriate IRSG group. Nerve preservation RPLND is overall survival (OS) rate is 68%, and the 5-year OS rate generally recommended when the imaging findings suggest is 30% . RPLN metastasis is an important prognostic RPLN metastases . However, whether imaging-negative factor . Ferrari et al. found that the 5-year disease- patients need RPLND is still a controversial problem. Wal- free survival was 97% for patients without RPLN metas- terhouse and Watson administered chemotherapy alone to tases and 42% for those with metastasis . Another imaging-negative patients who had undergone radical or- prognostic factor is the age of the patient . Compared chiectomy; only one patient (16.7%) had a regional recur- with pediatric patients with RMS, adults with RMS of any rence during the follow-up period, and that patient was organ have significantly worse long-term outcomes . saved with additional therapy . This result indicates that In our patient, CT findings suggested RPLN metasta- imaging-negative cases can avoid RPLND, thus reducing ses, but because the patient rejected RPLND, we could complications and improving quality of life. Contrarily, not confirm the IRSG classification of his embryonal Wiener et al. found that CT scans for patients with intras- RMS. If the soft tissue density shadows seen by CT were crotal RMS (especially for those over 10 years old) often metastases, the tumor would be classified as IRSG group underestimate RPLN metastases from localized tumors, so IIA. In view of the aggressiveness and poor prognosis of they urged that imaging-negative adolescent patients adult RMS, our patient should be treated according to should still undergo RPLND for further assessment of the therapeutic regimen proposed by the IRSG for group nodal involvement and to provide guidance for subsequent IIA disease. In fact, the patient is continuing to receive a therapies . VAC chemotherapy regimen with abdominopelvic Gong et al. Journal of Medical Case Reports (2018) 12:149 Page 5 of 5 radiotherapy in another hospital. A longer follow-up for Received: 3 December 2017 Accepted: 7 February 2018 him has been planned. References Conclusions 1. Arndt CA, Rose PS, Folpe AL, et al. Common musculoskeletal tumors of childhood and adolescence. 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Wolden SL, Anderson JR, Crist WM, et al. Indications for radiotherapy and Committee of Nanjing Drum Tower Hospital Affiliated to Nanjing University chemotherapy after complete resection in rhabdomyosarcoma: a report Medical School. from the Intergroup Rhabdomyosarcoma Studies I to III. J Clin Oncol. 1999;17(11):3468–75. Consent for publication Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal. Competing interests The authors declare that they have no competing interests. Publisher’sNote Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Author details 1 2 Medical School of Nanjing University, Nanjing 210093, China. Department of Andrology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing 210008, China.
Journal of Medical Case Reports
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Published: May 28, 2018