Cervix

Mesenchymal / mixed epithelial & mesenchymal tumors

Rhabdomyosarcoma


Editorial Board Member: Carlos Parra-Herran, M.D.
Deputy Editor-in-Chief: Jennifer A. Bennett, M.D.
Kyle Devins, M.D.
Jaclyn Watkins, M.D., M.S.

Topic Completed: 12 October 2021

Minor changes: 12 October 2021

Copyright: 2007-2021, PathologyOutlines.com, Inc.

PubMed Search: Rhabdomyosarcoma cervix [TI] pathology

Kyle Devins, M.D.
Jaclyn Watkins, M.D., M.S.
Page views in 2020: 1,724
Page views in 2021 to date: 2,660
Cite this page: Devins K, Watkins J. Rhabdomyosarcoma. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/cervixrhabdomyosarcoma.html. Accessed December 3rd, 2021.
Definition / general
  • Rare sarcoma showing evidence of skeletal muscle differentiation
  • Multiple subtypes: embryonal, alveolar and pleomorphic
Essential features
  • Most common variant in the gynecologic tract is embryonal, which typically presents as a polypoid vaginal or cervical mass in children and adolescents
  • Rhabdomyosarcoma originating in the uterine corpus, fallopian tube or ovary is less common and occurs over a wider age range
  • Presence of rhabdomyoblasts, typically expressing MyoD1 or myogenin, is essential for diagnosis
Terminology
  • Sarcoma botryoides: refers to the macroscopic appearance of embryonal rhabdomyosarcoma (i.e. polypoid mass resembling a cluster of grapes)
ICD coding
  • ICD-10:
    • C52 - malignant neoplasm of vagina
    • C53.9 - malignant neoplasm of cervix uteri, unspecified
    • C54.2 - malignant neoplasm of myometrium
    • C56.9 - malignant neoplasm of unspecified ovary
    • C57.0 - malignant neoplasm of fallopian tube
Epidemiology
  • Dependent upon subtype and location:
    • Embryonal (most common)
      • Vagina: most common vaginal cancer in children < 5 years of age
      • Uterine cervix: peak incidence 10 - 19 years but may occur in older women
      • Uterine corpus: middle aged and older women
    • Alveolar, pleomorphic (rare)
      • Wide age range, usually older women
  • References: Int J Gynecol Cancer 2008;18:190, Gynecol Oncol 1988;29:290, Hum Pathol 2018;74:122
Sites
  • Most common: cervix and vagina
  • Rarely occurs in the uterine corpus, fallopian tube and ovary
Pathophysiology
Etiology
  • Subset of embryonal rhabdomyosarcomas, particularly of the uterine cervix, occur as a component of DICER1 syndrome with germline DICER1 mutations
Clinical features
Diagnosis
Radiology description
  • Embryonal rhabdomyosarcoma appears as a heterogenous mass, with cystic and solid components on ultrasound; CT demonstrates a similar appearance to that seen on ultrasound (Radiographics 1997;17:919)
Radiology images

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Vaginal embryonal rhabdomyosarcoma

Prognostic factors
Case reports
Treatment
  • Embryonal rhabdomyosarcoma may be treated with a combination of surgery, chemotherapy and radiation therapy (Int J Gynecol Cancer 2008;18:190)
  • Limited data in treating adults, nonembryonal subtypes and noncervicovaginal sites in the female genital tract
    • Protocols are typically extrapolated from nongynecologic sites and involve a combination of resection (total hysterectomy and bilateral salpingo-oophorectomy) and chemotherapy with or without radiation (Int J Radiat Oncol Biol Phys 2013;86:58)
Clinical images

Images hosted on other servers:

Cervical embryonal
rhabdomyosarcoma

Gross description
  • Botryoid embryonal rhabdomyosarcoma: grape-like polypoid cluster of tan to gray, semitranslucent tissue protruding from the vagina or cervical os
  • Uterine rhabdomyosarcoma: myometrially centered tumors with tan-white, fleshy cut surface with hemorrhage and necrosis
  • References: Am J Obstet Gynecol 1970;107:484, Gynecol Oncol 1988;29:290
Gross images

Images hosted on other servers:
Missing Image

Gray surface and areas of hemorrhage

Microscopic (histologic) description
  • Embryonal rhabdomyosarcoma (Gynecol Oncol 1988;29:290, Mod Pathol 2012;25:602, Mod Pathol 2021 May 20 [Epub ahead of print])
    • Alternating hypercellular areas and hypocellular areas with myxoid / edematous (more common) or collagenous (less common) stroma
    • Densely cellular subepithelial zone (cambium layer) composed of primitive, small cells with hyperchromatic nuclei and mitotic activity
    • Rhabdomyoblasts typically seen in hypocellular foci
      • Eccentric, dense eosinophilic cytoplasm
      • Elongated strap cells (bipolar) or tadpole cells (unipolar) with eosinophilic cytoplasm and cross striations
    • Hyaline or fetal type cartilage in ~50% of cases
  • Alveolar rhabdomyosarcoma (Hum Pathol 2018;74:122)
    • Nests and sheets of primitive small round cells with abundant eosinophilic cytoplasm
    • Noncohesive cells floating in empty spaces create characteristic alveolar pattern
  • Pleomorphic rhabdomyosarcoma (Hum Pathol 2018;74:122, Int J Gynecol Pathol 2010;29:122)
    • Sheet-like growth of pleomorphic round to spindled cells
    • Scattered large rhabdomyoblasts
Microscopic (histologic) images

Contributed by Kyle Devins, M.D.
Edematous stroma

Edematous stroma

Cambium layer

Cambium layer

Rhabdomyoblasts

Rhabdomyoblasts

Hyaline cartilage

Hyaline cartilage

Nests, sheets and alveolar spaces

Nests, sheets and alveolar spaces


Alveolar spaces

Alveolar spaces

Desmin

Desmin

Myogenin

Myogenin

Nuclear pleomorphism

Nuclear pleomorphism

Virtual slides

Images hosted on other servers:
Embryonal rhabdomyosarcoma Embryonal rhabdomyosarcoma Embryonal rhabdomyosarcoma Embryonal rhabdomyosarcoma

Embryonal rhabdomyosarcoma

Cytology description
  • Clusters of atypical hyperchromatic round to ovoid cells (Diagn Pathol 2016;11:3)
  • Occasional characteristic unipolar tadpole cells
Cytology images

Images hosted on other servers:

Brushing of
uterine embryonal
rhabdomyosarcoma

Positive stains
Negative stains
Molecular / cytogenetics description
Sample pathology report
  • Cervix, polypectomy:
    • Embryonal rhabdomyosarcoma (see comment)
    • Comment: The tumor demonstrates polypoid fragments with myxoid / edematous stroma and scattered aggregates of primitive cells. Clusters of differentiating rhabdomyoblasts with focal cross striations are seen, which are highlighted by an immunohistochemical stain for desmin. There is also focal positivity for myogenin and myoD1, supporting the above diagnosis.
Differential diagnosis
Board review style question #1

Which of the following is true about the pictured tumor?

  1. Benign entity with minimal chance of recurrence
  2. Most common presentation is a polypoid mass in the cervix or vagina of children and adolescents
  3. Most often occurs in the uterus of adult women
  4. Immunohistochemistry is unhelpful in establishing the correct diagnosis
Board review style answer #1
B. Most common presentation is a polypoid mass in the cervix or vagina of children and adolescents

Comment Here

Reference: Rhabdomyosarcoma
Board review style question #2
Which of the following features are associated with poor prognosis in gynecologic rhabdomyosarcoma?

  1. Age < 10 years at diagnosis
  2. Embryonal histology
  3. FOXO1 gene fusion
  4. Somatic DICER1 mutation
Board review style answer #2
C. FOXO1 gene fusion

Comment Here

Reference: Rhabdomyosarcoma
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