Sarcoma botryoides

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Roukoz A. Karam, M.D.[2] Maria Fernanda Villarreal, M.D. [3]

Synonyms and keywords: Vaginal sarcoma; Embryonal vaginal rhabdomyosarcoma; Botryoid tumor

Sarcoma botryoides is a rare subtype of embryonal rhabdomyosarcoma. The botryoides subtype of embryonal rhabdomyosarcoma accounts for about 10% of all rhabdomyosarcoma cases and arises from the sub-mucosal surface of body orifices such as the vagina, bladder and cervix. The most common clinical finding is vaginal bleeding. Sarcoma botryoides was first described by Guersant in 1854. Genes involved in the development of sarcoma botryoides include K-RAS gene and P53 oncogene. It is more commonly observed among girls aged 3 to 8 years old. If left untreated, patients with sarcoma botryoides may progress to develop direct extension to pelvic soft tissue structures. The mainstay of therapy for sarcoma botryoides is surgery and adjuvant multi-agent chemotherapy.

• Sarcoma botryoides was first described by Guersant in 1854.^[1]
  • The patient, a 13-month-old infant, had a polyp of the vagina that grew quite rapidly and resulted in death 2 months after it was first noted.
  • Granicher is said to have been the first to observe sarcoma botryoides at birth.

• Pfannenstiel in 1892 actually was the first to call attention to the “grapelike” appearance of the tumor.^[2]
  • The term “sarcoma botryoides” based on the tumor’s gross appearance, has persisted in literature.

• There is no established system for the staging of sarcoma botryoides.
• Sarcoma botryoides is a rare subtype of embryonal rhabdomyosarcoma.

• The pathogenesis of sarcoma botryoides is not fully understood.
• Genes involved in the development of sarcoma botryoides, include:

• K-ras gene
• P53 oncogene

• On gross pathology, characteristic findings of sarcoma botryoides, include:^[3]

• Grape-like morphology
• Fleshy nodular polypoid projections

• On microscopic histopathological analysis, characteristic findings of sarcoma botryoides include:^[3][4]

• Rhabdomyoblasts
  • May include cross-striations
• Myxoid stroma
• Cambium layer
  • Formed by tumor cells beneath the vaginal epithelium
• Spindle-shaped tumor cells
• Randomly arranged small cells
• Tadpole-like morphology
• Desmin and MyoD1 postivie

• There are no established causes for sarcoma botryoides.^[3]

• Sarcoma botryoides must be differentiated from other tumors that cause vaginal bleeding, such as:^[5]
  • Vaginal adenocarcinoma
    • Distinguished histologically from sarcoma botryoides
    • Shows fibrous stroma and leaf-like pattern of glands.
  • Squamous cell vaginal carcinoma
  • Edematous cervical mesodermal polyps
    • Also known by pseudosarcoma botryoides
  • Rhabdomyoma
  • Melanoma metastasis

• Sarcoma botryoides is very rare.
• The prevalence of sarcoma botryoides remains unknown.^[3]

• The incidence of sarcoma botryoides decreases with age; the median age at diagnosis is 3 years.^[6]
• Sarcoma botryoides is more commonly observed among patients aged 3 to 8 years old.
• Sarcoma botryoides is more commonly observed among young children.

• Sarcoma botryoides affects females more frequently than males.

• There is no racial predilection to sarcoma botryoides.

• There are no risk factors associated with the development of sarcoma botryoides.^[7]

• The majority of patients with sarcoma botryoides remain asymptomatic.
• If left untreated, patients with sarcoma botryoides may progress to develop direct extension to pelvic soft tissue structures.
• If a patient presents with the classical presentation of a grape-like vaginal tissue, every doctor should be alarmed and commence rapid diagnosis followed by therapy.^[8]
• Common complications of sarcoma botryoides, include:

• Bleeding
• Infertility
• Death

• Favorable prognostic parameters:^[9]
  • Disease without deep myometrial invasion
  • Single polyp
  • Embryonal histologic subtype
• Poor prognostic factors include:^[10]
  • Metastatic disease at presentation
  • Poor response to chemotherapy

• Sarcoma botryoides may be initially asymptomatic.
• A classic textbook presentation of sarcoma botryoides is a ‘grape-like’ vaginal tissue loss.^[8]
• Symptoms of sarcoma botryoides may include the following:^[3]

• Vaginal bleeding
• Vaginal discharge
  • Watery
  • Blood-tinged
  • Malodorous
• Irritability

• Physical examination showed no abnormalities, but vaginal examination showed abnormal vaginal tissue protruding through the vagina introitus.^[8]

• There are no specific laboratory findings associated with sarcoma botryoides.

• There are no specific imaging findings associated with sarcoma botryoides.^[3]
• MRI of the abdominal region shows a solid lesion arising from the vagina and is:^[8]
  • non-homogeneous
  • Polycyclic
  • Grape-like

• The most effective treatment for sarcoma botryoides has not been well established yet and is still subject to on going research.
• Due to the lack of data on surgical interventions and histopathological prognostic factors of sarcoma botryoides cases and the variation in management approaches, it is difficult to set a definitive treatment path.^[11]
• From the available literature, it appears that limited surgery with adjuvant multi-agent chemotherapy is feasible in the treatment of sarcoma bortyoides.^[11]
• The optimal chemotherapy for sarcoma botryoides, include:

• Vincristine
• Cyclophosphamide
• Actinomycin D

• Surgery is the mainstay of therapy for sarcoma botryoides.
• Patients with favorable prognostic parameters can effectively be treated by surgery.^[9]
• Patients with unfavorable prognostic parameters seem to benefit from a multimodality approach including surgery plus adjuvant chemotherapy and radiotherapy.^[9]

• There are no primary preventive measures available for sarcoma botryoides.