Testis and epididymis
Spermatic cord tumors
Rhabdomyosarcoma

Author: Swapnil U. Rane, M.D. (see Authors page)

Revised: 25 May 2017, last major update July 2014

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: Rhabdomyosarcoma [title] testis

Related topics: Spindle cell variant
Cite this page: Rhabdomyosarcoma. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/testisrms.html. Accessed July 25th, 2017.
Definition / general
  • Primitive malignant round cell tumor with skeletal muscle differentiation by immunohistochemistry or ultrastructure
Epidemiology
  • Relatively rare, 7% of all rhabdomyosarcomas, 6% of all paratesticular tumors but still the most common nongerminal malignant tumor in the paratesticular region
  • Incidence: ~1/20 million males per year
  • Paratesticular region is the most common site for rhabdomyosarcomas in teenagers
  • No preference for either side or race has been demonstrated
  • Embryonal RMS (including its variant spindle cell type) is the most common subtype in this region, though any subtype can occur
    • Occurs in all age groups but most common in children
    • ~80% occur before age 21 years, 20% are equally distributed in older age groups
  • Alveolar RMS and pleomorphic RMS are less common, pleomorphic RMS is least common
    • Alveolar RMS occurs mainly in young adults and adolescents
    • Pleomorphic RMS occurs mainly in adults
Sites
  • Most cases are centered around paratesticular soft tissue with variable testicular involvement
Pathophysiology
  • Commonly spreads through lymphatics to iliac lymph nodes but hematologic spread to lungs and liver also occurs
Clinical features
  • Short clinical history of painless swelling in scrotum of days to weeks duration is most common presentation
  • Pain or history of trauma is extremely uncommon (~7% cases for each)
  • Tumor is usually large at presentation, often reaching the inguinoscrotal region
  • 1/3 to 1/2 have metastases at presentation
Diagnosis
  • Suspected clinically or by imaging, confirmed by histology
Laboratory
  • No specific laboratory features
  • Negative markers for germ cell and sex cord stromal tumors
  • Liver function tests may be affected by metastases
Radiology description
  • MRI reveals a heterogeneously enhancing, well defined soft tissue mass classically encasing or displacing the testis
Prognostic factors
  • Poor prognosis is related to:
    • Age of the patient ≥ 10 years or < 1 year
    • Site of origin: parameningeal, bladder, prostate, abdomen, trunk, extremities are associated with poor prognosis; orbital, paratesticular and vaginal locations are associated with better prognosis
    • Tumor size (largest diameter) > 5cm
    • Locally invasive (T2) tumor
    • Incomplete resectability
    • Presence of distant metastases at diagnosis
    • Number of metastatic sites or tissues involved
    • Presence of regional lymph node involvement (N1)
    • Histopathologic subtype: pleomorphic worse than alveolar, worse than embryonal (J Clin Oncol 2003;21:78)
  • Intergroup Rhabdomyosarcoma Study group's International Classification of Rhabdomyosarcomas (Cancer 1995;76:1073)
    • Group I (better prognosis): botyroid and spindle cell variants
    • Group II (intermediate prognosis): embryonal NOS
    • Group III (worse prognosis): alveolar
    • Group IV (unclear prognosis): RMS with rhabdoid features, embryonal RMS with anaplastic features, sclerosing RMS
Case reports
Treatment
  • Multimodal approach of surgical excision, VAC based chemotherapy is standard of care
  • While most authors support use of chemotherapy, there is significant toxicity
  • Ferrari et al suggested that low risk cases receive low dose anthracycline free regimens without any loss of benefit
    • Their study of 216 cases of pediatric paratesticular rhabdomyosarcoma had overall 5 year survival of 85.5%, 95% for localized disease, 2% for metastatic disease (J Clin Oncol 2002;20:449)
  • Radiotherapy for local disease control may be given
  • Retroperitoneal lymph node dissection is not advocated unless there is evidence of lymph node enlargement / involvement by imaging
  • Detailed approaches and stratification for treatment are available (Expert Rev Anticancer Ther 2005;5:283, Sarcoma 2001;5:9, Clin Oncol (R Coll Radiol) 2013;25:27)
Clinical images

Images hosted on other servers:

Large epididymal mass

USG: ill defined heterogeneous mass

20 cm scrotal mass

Gross description
  • Encapsulated, lobulated, smooth, gray white glistening mass that displaces testicular parenchyma but typically does not invade testicular tissue
  • 1 to 20 cm, with foci of hemorrhage and cystic degeneration
Gross images

Images hosted on other servers:

Scrotal mass

Yellow myxoid solid tumor

Displacing testis

Microscopic (histologic) description
  • Mixture of haphazardly arranged rhabdomyoblasts and undifferentiated primitive cells
  • Primitive cells are small and round with minimal cytoplasm, dark nuclei
  • Variable numbers of strap cells, with or without cross striations and bizarre "tadpole" cells
  • Spindle cell morphology appears to be more common at this location
  • Variable mitotic activity
Microscopic (histologic) images

Images hosted on other servers:

Spindle shaped cells

H&E, desmin, MyoD1

Embryonal (3 images)

Alveolar

Virtual slides

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Alveolar RMS in 3 year old child

Positive stains
  • Desmin, myoglobin, myosin, MSA (nonspecific)
  • MyoD1 (nuclear expression; regulatory protein in skeletal muscle differentiation) - confirmatory marker
  • Myogenin (nuclear expression; regulatory protein in skeletal muscle differentiation) - confirmatory marker
  • May rarely express cytokeratin
Negative stains
  • TdT, lymphoid markers
Electron microscopy description
  • Thin actin and thicker myosin filaments are seen
  • No neurosecretory granules
Molecular / cytogenetics description
  • Partial monosomy of chromosome 11; loss of heterozygosity (LOH) at 11p characterizes embryonal RMS
    • LOH by loss of maternal copy and duplication of paternal copy of 11p results in activation of IGF2 (IGF2 is known to show genomic imprinting, with silencing of the maternal allele)
  • Alveolar RMS is characterized by t(2;13)(q35;q14) or t(1;13)(p36;q14), resulting in PAX3-FKHR or the PAX7-FKHR fusion proteins, detectable in 75 - 80% of alveolar RMS but absent in other subtypes
  • Some cases of alveolar RMS have loss of imprinting of the IGF2 gene with re-expression of the normally silent maternal allele
Differential diagnosis