Uterus
Stromal tumors
High grade endometrial stromal sarcoma

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Editor-in-Chief: Debra Zynger, M.D.

Minor changes: 15 October 2020

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PubMed search: High grade endometrial stromal sarcoma [title]

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Cite this page: Ondič O. High grade endometrial stromal sarcoma. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/uterusESShighgrade.html. Accessed October 20th, 2020.
Definition / general
  • Very rare biologically aggressive mesenchymal tumor of the uterus originating in the endometrial stroma
Essential features
Terminology
ICD coding
  • ICD-O: 8930/3 - endometrial stromal sarcoma, high grade
  • ICD-10: C54.1 - malignant neoplasm of endometrium
Epidemiology
Sites
  • Mostly uterine corpus
  • Rarely uterine isthmus
Pathophysiology
  • Gene rearrangement: YWHAE-NUTM2 (NUTM2 synonym FAM22)
  • Gene rearrangement: ZC3H7B-BCOR (reciprocal)
  • Possibly other so far unknown fusions
Etiology
  • Unknown
Clinical features
  • Nonspecific long lasting pelvic pain
  • Menorrhagia
  • Postcoital bleeding
  • Brown discharge
  • Frequently starts as a polypoid intrauterine mass, which may imitate endometrioid endometrial adenocarcinoma, endometrial polyp or even myoma nascent
  • References: Mod Pathol 2018;31:674, Gynecol Oncol 2017;145:531
Diagnosis
  • Colposcopy and hysteroscopy (friable or softly elastic polypoid tumor may resemble submucous leiomyoma; consistent with sarcoma, if advanced stage)
  • Small biopsy
  • May be preceded / accompanied by abdominal or vaginal ultrasound
  • Possibly followed by nuclear magnetic resonance (NMR), PET / NMR
Radiology description
  • Doppler ultrasound finding may imitate:
    • Uterine leiomyosarcoma
    • Endometrioid endometrial carcinoma with myometrial invasion
  • As per PET / MR, it may be diagnosed as unspecified uterine malignancy with high metabolic activity
Radiology images

Contributed by Jan Kosťun, M.D., Pavel Vlasák, M.D. and Eva Ferdová, M.D.
Doppler US with sarcoma features

Doppler ultrasound with sarcoma features

Dopler US with endometrioid cancer features Doppler US with endometrioid cancer features

Doppler ultrasound with endometrioid cancer features

High metabolic activity tumor

High metabolic activity tumor

Prognostic factors
  • Stage (the single most important prognostic factor)
  • Type of surgical procedure (morcellation is an unfavorable prognostic factor)
  • Recurrence and overall prognosis cannot be assessed due to insufficient data
Case reports
  • 40 year old woman with a 4 month history of recurrent right sided lower thoracic pain during sports and with a history of hysterectomy (BMC Cancer 2018;18:92)
  • 41 year old woman presenting with a 6 month history of menorrhagia due to 6.5 cm large uterine fibroid (Int J Gynecol Pathol 2019;38:420)
  • 51 year old woman presenting with brown discharge and postcoital bleeding due to myoma nascens-like polypoid mass distending cervical canal (Virchows Arch 2020;476:61)
Treatment
  • Abdominal hysterectomy and bilateral adnexectomy
  • Above followed by (mostly) doxorubicin or ifosfamide monotherapy or gemcitabine / docetaxel combination therapy (Obstet Gynecol 2013;122:676)
  • Alternatively, oral antiangiogenic tyrosine kinase inhibitor (TKI) pazopanib (BMC Cancer 2018;18:92)
Gross description
Gross images

Contributed by Ondrej Ondič, M.D., Ph.D.

Stromal sarcoma of the uterus

Microscopic (histologic) description
Microscopic (histologic) images

Contributed by Ondrej Ondič, M.D., Ph.D.
Spindle cell morphology Spindle cell morphology

Spindle cell morphology

Expansile pattern

Expansile pattern

High grade component

High grade component


Signet ring-like change

Signet ring-like change

Tongue-like infiltration

Tongue-like infiltration

A short capillary network

A short capillary network

Small round cells

Small round cells

Positive stains
Negative stains
Molecular / cytogenetics description
  • Gene rearrangement involving BCOR, ZC3H7B, YWHAE, NUTM2A, NUTM2B genes, with breaks at different exons, can be detected by FISH showing split signal
Sample pathology report
  • Uterus, hysterectomy and bilateral adnexectomy:
    • ZC3H7B-BCOR rearranged high grade endometrial stromal sarcoma (see comment, see synoptic report)
    • Comment: Polypoid high grade mesenchymal tumor consisting of a spindle cell population with focal signet ring-like cytoplasmic change and up to 15 mitoses per 10 high power fields. Stroma is focally myxoid. Tumor border is tongue-like, infiltrating less than half of the myometrial wall thickness. Immunohistochemically, there is a positive expression of BCOR, CD10 and negative expression of desmin, h-caldesmon, alpha smooth muscle actin. Molecular genetic testing confirmed reciprocal ZC3H7B-BCOR gene rearrangement.
Differential diagnosis
Additional references
Board review style question #1

Which of the following is true about the uterine tumor shown above?

  1. IHC for cyclin D1, BCOR and CD10 would not be helpful in the differential diagnosis
  2. The histologic appearance is pathognomonic for leiomyosarcoma
  3. This tumor always has strong expression of smooth muscle differentiation markers
  4. To get to the correct diagnosis, next generation sequencing should be considered
Board review answer #1
D. In this case, to get to the correct diagnosis, next generation sequencing should be considered. This is a uterine high grade endometrial stromal sarcoma.

Comment Here

Reference: High grade endometrial stromal sarcoma
Board review style question #2
To best diagnose a uterine mesenchymal tumor with myxoid change

  1. A single FISH study is enough in most of the cases to make a correct diagnosis
  2. It is necessary to consider next generation sequencing
  3. Immunohistochemistry is of no value
  4. Molecular genetic testing is not warranted
Board review answer #2
B. It is necessary to consider next generation sequencing

Comment Here

Reference: High grade endometrial stromal sarcoma
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