Paratesticular rhabdomyoma

doi:10.1016/S0022-3468(03)00513-X

Journal of Pediatric Surgery

Volume 38, Issue 10, October 2003, Pages 1546-1547

https://doi.org/10.1016/S0022-3468(03)00513-X Get rights and content

Abstract

A case of rhabdomyoma of the spermatic cord in an infant with cryptorchidism is reported. This extremely rare tumor has not been described in an extrascrotal position or at such a young age. Differential diagnosis includes malignant rhabdomyosarcoma. Although fetal-type rhabdomyoma of the head and neck generally is a benign tumor, the prognosis of paratesticular fetal-type rhabdomyoma is unknown. Long-term follow-up is recommended.

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Case report

During routine physical examinations, a newborn was noted to have left cryptorchidism and a normal right testicle. Examination at 10 months of age found a palpable mass in the left groin that was presumed to be a testicle. Inguinal exploration at 1 year of age showed a 1.5-cm tan mass in the canal attached to a hernia sac (Fig 1). The mass appeared to be contiguous with the cremasteric muscle fibers and the parietal surface of the hernia sac. Exploration of the proximal hernia sac found a

Discussion

Tumors showing skeletal muscle differentiation are among the most common soft tissue neoplasms of childhood. The majority are malignant rhabdomyosarcoma.6 The clinical and histologic features of the current case are those of a benign RM, which comprise 2% of all tumors with skeletal muscle differentiation.7 Most RMs occur in the head and neck region of boys. Extracardiac RMs have been classified into subtypes based on the maturity of the histologic pattern: fetal, juvenile, and adult. The

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Cited by (15)

Molecular assessment of paratesticular rhabdomyomas demonstrates recurrent findings, including a novel H3C2 p.K37I mutation
2022, Modern Pathology
Rhabdomyomas are benign tumors with skeletal muscle differentiation that are broadly divided into cardiac and extracardiac types. The latter demonstrate a predilection for head and neck and genital locations and are further subclassified into adult-type rhabdomyoma (ATRM), fetal-type rhabdomyoma (FTRM) and genital rhabdomyoma (GRM). Most extracardiac rhabdomyomas that arise in paratesticular tissues have a somewhat distinctive morphology and have been termed sclerosing rhabdomyomas (SRM). Therefore, we hypothesized that these tumors may harbor recurrent genetic alterations. In this study, we assessed 15 paratesticular rhabdomyomas (11 initially classified as SRM, 2 cellular FTRM and 2 ATRM) using massively parallel DNA and RNA sequencing. Five of 14 successfully sequenced cases harbored a novel H3C2 p.K37I mutation (4 SRM and 1 ATRM). This mutation replaced a highly conserved lysine residue that is a target for epigenetic modifications and plays a role in regulation of DNA replication. Moreover, 4 tumors (2 cellular FTRM, 1 case initially diagnosed as SRM and 1 ATRM) had complex copy number profiles characterized by numerous chromosome-level and arm-level copy number gains, consistent with a ploidy shift. Rereview of the SRM with copy number gains demonstrated that it was significantly more cellular and had a more prominent fascicular architecture than the rest of the SRMs included in this series. Therefore, it was retrospectively reclassified as a cellular FTRM. In conclusion, this study demonstrated that paratesticular rhabdomyomas harbor recurrent somatic H3C2 p.K37I mutations and ploidy shifts.
Spermatic Cord and Testicular Adnexa
2020, Urologic Surgical Pathology
The paratesticular region includes the testicular tunics, efferent ductules, epididymis, spermatic cord, and vas deferens. Most studies of paratesticular region pathology include the rete testis despite its intratesticular location.¹ Numerous rare and interesting lesions arise in this region, including cysts, “celes,” inflammatory diseases, embryonic remnants, neoplasms, and neoplasm-like proliferations (Table 14.1). In children, one of the common neoplasms is paratesticular rhabdomyosarcoma. In adults the most common pathologic conditions, in order of frequency and excluding “celes,” are epididymitis, lipoma of the spermatic cord, adenomatoid tumor of the epididymis, and sarcoma of the spermatic cord.² It is often difficult to diagnose paratesticular masses before or during surgery due to their varied morphologic appearance and rarity. An inguinal surgical approach is usually indicated when there is a suspicion of malignancy. The pathologist should document the anatomic site of origin, histologic classification, and extent of spread of the lesion.
Embryonal paratesticular rhabdomyosarcoma: A case report and a literature revue
2015, Cancer/Radiotherapie
Le rhabdomyosarcome para-testiculaire est une tumeur rare. Le traitement doit être multimodal et fait appel à la chirurgie, à la chimiothérapie et à la radiothérapie. Il est dicté par la stratification en groupes de risque selon le bilan préthérapeutique et le résultat anatomopathologique définitif. Un âge de plus de 10 ans et la présence d’adénopathies suspectes à l’imagerie sont prédictifs d’une atteinte ganglionnaire histologique. Le pronostic des formes localisées est excellent avec des taux de survie globale dépassant les 90 % à 5 ans. Nous rapportons le cas d’un patient pris en charge dans notre institution pour un rhabdomyosarcome paratesticulaire de type embryonnaire.
Paratesticular rhabdomyosarcoma is a rare tumor. Multimodality treatment should involve surgery, radiotherapy and chemotherapy, which are indicated according to risk groups. Risk group stratification depends on pretreatment staging and definitive histology. Patients older than 10 years or those with suspected lymph nodes on imaging have higher incidence of lymph node involvement. Prognosis is excellent for localized tumors, survival rates exceed 90%. We report a case of embryonal paratesticular rhabdomyosarcoma treated in our institution.
Testicular and paratesticular tumors and tumor-like lesions in the first 2 decades
2014, Seminars in Diagnostic Pathology
Citation Excerpt :
Desmin reactivity and negativity for EMA and p53 are also in favor of a reactive process over mesothelioma,292 but exceptions do occur.293 Rhabdomyoma of the paratestis is much less common than rhabdomyosarcomas (see below), but two occurred in the spermatic cord of infants,294,295 two in the epididymis, one in the tunica vaginalis, and two in the paratestis (not further specified) of 17–19-year olds.296–298 The infantile tumors had spindle cells with uniform nuclei and eosinophilic cytoplasm arrayed in bundles in a myxoid stroma.
The spectrum of testicular tumors and tumor-like lesions that affect young patients (defined for purposes of this article as less than 20 years old) differs significantly from that in an older age group. Although germ cell tumors remain the single largest category, they are a smaller proportion than in adults. Furthermore the pathogenesis and behavior of comparably named germ cell tumors differ depending on whether or not they have developed in prepubertal or postpubertal patients. This is most apparent for the teratomas, which are almost uniformly benign in children but, with some notable exceptions, malignant in the older patients. But even the most common malignant tumor of the testis in children, the yolk sac tumor, despite its identical morphology, lacks the association with other germ cell tumor types, including intratubular germ cell neoplasia, and more aggressive behavior that typify the adult tumors. Among the sex cord–stromal tumors, the juvenile granulosa cell tumor predominates in children, mostly occurs in those under 1-year old, and, for all intents and purposes, is not seen in the postpubertal period. It has a distinctive morphology and, to date, a uniformly benign outcome. There are additional tumors in the sex cord–stromal group that are mostly seen in young patients, including the large cell calcifying Sertoli cell tumor and intratubular large cell hyalinizing Sertoli cell neoplasia. The former is sometimes associated with the Carney syndrome and, to date, all of the latter with the Peutz–Jeghers syndrome. The subtypes of lymphomas and leukemias that involve the testis in children are rare in older patients, and similar remarks pertain to the metastatic tumors, where neuroblastoma (especially) and Wilms׳ tumor are most common but may be mimicked by primary tumors originating in the paratestis. The pseudoneoplastic lesion, the testicular “tumor” of the adrenogenital syndrome, is usually found in young patients and bears a strong resemblance to the Leydig cell tumor, although there are features that allow its distinction, which is important given its frequently bilateral nature and amenability to medical management through glucocorticoid administration. One of the preferential sites for embryonal rhabdomyosarcoma is the paratestis of young patients, where the spindle cell variant predominates. The melanotic neuroectodermal tumor (retinal anlage tumor) usually occurs in the first year of life, typically involves the epididymis, and uncommonly metastasizes. Occasional cases of the desmoplastic small round cell tumor present in the paratestis of teenagers, and some distinctive tumor-like lesions of the paratestis may also be seen, including meconium periorchitis and splenic–gonadal fusion (occupying both testis and paratestis). These tumors and tumor-like lesions and many others are discussed in this review with the hope it will provide the diagnostic pathologist aid in recognizing the lesions and providing some insight into their clinical significance.
Paratesticular fetal-type rhabdomyoma in a 12-year-old boy: A case report and literature review
2013, Urology
Fetal rhabdomyoma (F-RM) is a very rare tumor that usually occurs in the head and neck. Paratesticular F-RM in children is extremely rare. In this article, we report the case of a 12-year-old boy diagnosed with paratesticular F-RM. The patient was well, with no local recurrence or metastasis 5 years after excision of the tumor. To our knowledge, this is the first case of F-RM reported in an adolescent. We also reviewed the literature and compared our patient with the 11 previously reported patients with F-RM.
Fetal Rhabdomyoma (F-RM) inside scrotum in a 2-years-old boy: Clinical and pathological finding
2013, Journal of Pediatric Surgery Case Reports
Citation Excerpt :
Only one case has been reported in an infant. Kurzrock et al reported a case of fetal-type rhabdomyoma of the spermatic cord with cryptorchidism in an infant of 10-months-old [8]. Our case is secondly described as an intrascrotal position in young children.
Fetal Rhabdomyoma (F-RM) is a benign tumor of mesenchymal tissue with the characteristics of cross striated muscle, involving mainly the soft tissue around ears, neck and mucosa of the nasopharynx, oropharynx and laryngeal. There have been very few reports of F-RM inside the scrotum. Here we presented a case of a 2-year-old male child with fetal rhabdomyoma inside his scrotum close to the testis. Histopathology shows that the tumor tissue is mainly composed of skeletal muscle cells in diverse differentiated states and a few undifferentiated lobus intermedius cells. The part of immature skeletal cell of the tumor displayed spindle shape and showed intersected and/or fascicular in the arrangement. The tumor cells are void of aberrant enucleated and dividing phase. Consequently, the patient is presently in good condition and requires a follow-up survey. Conclusively, genital rhabdomyoma is a rare tumor of skeletal muscle origin. We presented the clinical, histological, and immunohistochemical findings of paratesticular fetal rhabdomyoma in a 26-month-old boy. To our knowledge, it is the second case in the scrotum to have been reported in children.

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Case reportParatesticular rhabdomyoma

Abstract

Section snippets

Case report

Discussion

Urology

Hum Pathol

Hum Pathol

Myogenic tumors of soft tissue

Rhabdomyoma of the tunica vaginalis of the testisA histologic, immunohistochemical, and ultrastructural study

Mod Pathol

Epididymal rhabdomyomaReport of a case, including histologic and immunohistochemical findings

Arch Pathol Lab Med

Case report
Paratesticular rhabdomyoma