High grade endometrial stromal sarcoma. A rare case report with diagnostic approach to challenging sarcomas of the uterine corpus.

Abstract

Introduction: High grade endometrial stroma sarcoma (HG-ESS) is a histologically and genetically heterogenous group, accounting for 15% of sarcomas of the uterine corpus.1,2
Aims and objectives: We describe a rare diagnostically challenging case of HG-ESS, and present histomorphological and immunohistochemical (IHC) features that help distinguish HG-ESS from other uterine sarcomas.
Methods/Patient: A 47-year-old lady, presented to the gynaecology out-patient-department with complaints of heavy menstrual bleeding for 1 year, and mild relief on taking progesterone. Ultrasonography and computerized tomography (CT) scans showed multiple uterine fibroids, largest measuring 9.5x8.1 cm. Elective hysterectomy with bilateral salpingectomy was performed.
Results: Gross examination showed an enlarged hysterectomy specimen with a large greyish white to yellow soft tissue mass measuring 13x10x8cm. Cut section through the mass showed yellow nodular areas with focal necrotic areas. Histopathology revealed a cellular tumour composed of spindled to epithelioid cells, with interspersed spiral arterioles, large foci of coagulative tumour necrosis and fibrohyalinization. Mitotic activity was 4-5 per high-power-field. IHC showed diffuse strong positivity for ER, PR, p16, cyclin D1 and p53; with Ki67 proliferative index of 60-80%. Another intramural endometrial stromal nodule was identified showing diffuse strong CD10 positivity. Final diagnosis of HG-ESS was made. Patient was given six cycles of Gemcitabine and Docetaxel chemotherapy, after which Positron emission tomography-CT scan showed no residual disease. Patient was disease free for 2 years following diagnosis.
Discussion: Uterine sarcomas are rare and present with diagnostic challenges due to similar clinical presentation and histomorphological overlap. The salient differentiating features between HG-ESS and other uterine sarcomas like leiomyosarcoma (LMS), undifferentiated uterine sarcoma (UUS), malignant perivascular epithelioid cell tumour (PEComa), uterine tumours resembling ovarian sex cord tumours (UTROSCT) and inflammatory myofibroblastic tumour (IMT) are discussed.2,3
Conclusion: HG-ESS is a rare aggressive uterine sarcoma. IHC plays a vital role in diagnosis and helps guide further management.
No conflicts of interest to disclose
Author affiliations: Depts of 1Pathology and 2Medical Oncology, Christian Medical College and Hospital, Ludhiana 141008, India.
*Corresponding author: Dr. Preethi Anni Mercy Paul, email: paulpreethi123@gmail.com

Full text

HIGH GRADE ENDOMETRIAL STROMAL SARCOMA. A RARE CASE
REPORT WITH DIAGNOSTIC APPROACH TO CHALLENGING
SARCOMAS OF THE UTERINE CORPUS.
Drs. Ravneet Singh Heer1, Nalini Calton1, Roma Isaacs1, Preethi Anni Mercy Paul1*, Ashwin Philips2
Dept. of 1Pathology,2Medical Oncology, Christian Medical College and Hospital, Ludhiana 141008, India
AIMS AND OBJECTIVES
▪We describe a rare diagnostically challenging case of HG-ESS,
and present the various histomorphological and
immunohistochemical (IHC) features that help distinguish HG-
ESS from other uterine sarcomas.
CASE REPORT
RESULTS
CONCLUSION
▪HG-ESS is a rare aggressive uterine sarcoma.
▪IHC plays a vital role in differential and integrating diagnosis
with molecular findings, which helps guide further
management.
INTRODUCTION
▪High grade endometrial stroma sarcoma (HG-ESS) is a
histologically and genetically heterogenous group, accounting for
15% of uterine sarcomas.1,2
▪A 47-year-old lady presented to the gynaecology OPD with complaints of heavy menstrual bleeding for 1 year, and mild relief on taking
progesterone.
▪Ultrasonography and computerized tomography (CT) scans showed multiple uterine fibroids, largest measuring 9.5x8.1 cm.
▪Serum CA125 levels were
▪Elective hysterectomy with bilateral salpingectomy was performed. No gross ascites, liver and other abdominal organs normal.
▪Gross: Morcellated specimen, large intramural tumour
13x10x8cm. Grey white cut surface with foci of necrosis (star).
▪Histopathology: Infiltrative intramural tumour, spindle-shaped
to epithelioid cells with interspersed spiral arterioles, large foci
of coagulative tumour necrosis (green star). Mitosis 2-4 per high
power field. No lymphovascular invasion.
▪A smaller separate endometrial stromal nodule (ESN) in uterine
wall. Adenomyosis was also present.
DISCUSSION
•HG-ESS comprises 3 main molecular groups, namely YWHAE-NUTM2A/B fusion associated, ZC3H7B-BCOR fusion associated or BCOR ITD mutated.2
•Salient differentiating features between HG-ESS and other uterine sarcomas like leiomyosarcoma (LMS), undifferentiated uterine sarcoma (UUS), malignant
perivascular epithelioid cell tumour (PEComa), uterine tumours resembling ovarian sex cord tumours (UTROSCT) and inflammatory myofibroblastic tumour
(IMT) are discussed in the table below.2,3
REFERENCES
1. Capozzi VA, Monfardini L, Ceni V, Cianciolo A, Butera D, Gaiano M, et al. Endometrial stromal sarcoma:
A review of rare mesenchymal uterine neoplasm. J Obstet Gynaecol Res. 2020;46:2221-36.
2. Chiang S, Croce S, Lee CH, Rouzbahman M. High-grade endometrial stromal sarcoma. In: WHO
classification of tumours editorial board. Female genital tumours. 5th ed. Lyon: International agency for
research on cancer; 2020.p.289-91.
3. Akaev I, Yeoh CC, Rahimi S. Update on endometrial stromal tumours of the uterus. Diagnostics (Basel).
2021;11:429.
HG
-ESS
LMS
UUS
Malignant
PEComa
UTROSCT
IMT
Incidence (%)
15
40
-50
Rare
Rare
<1
Rare
Age (years)
14
-71
>50
Post
-menopausal
51
50
38
Morphology
Spindle, round
Spindle,
epithelioid,
myxoid
Pleomorphic
epithelioid, spindle
Epithelioid, spindle,
melanin pigment +/-
Round
Spindle, fascicles,
myxoid
Cytological atypia
Moderate to
severe
Moderate to
severe
Severe
Variable
Mild
Minimal
Coagulative
tumour necrosis
Present
Present
Present
Rare
Absent
Absent
Mitosis
>10/10HPF
≥10/10HPF
Brisk
Variable
Low
Low
IHC
Cyclin D1,
BCOR,
CD10, ER, PR
Desmin, SMA,
h
-caldesmon,
ER, PR
p53, p16,
ER, PR (subset),
CD10 (variable)
HMB45,
melan-A,
Cathepsin K, desmin,
h
-caldesmon, SMA
Inhibin, Calretinin,
WT1, CD56, CD99,
SF1, FOXL2,
melan-
A
ALK (cytoplasmic),
SMA, desmin,
h
-caldesmon, CD10
▪IHC: ER, PR, p16, cyclin D1 and p53 diffuse strong positivity,
CD10 focal positivity. Ki67 proliferative index 60-80%.
▪ESN: diffuse strong CD10 positivity.
▪Final diagnosis of HG-ESS was made.
▪Stage: pTNM pT1b Nx, FIGO stage IB. Clinically, M0
▪Chemotherapy: 6 cycles of Gemcitabine and Docetaxel.
▪PET-CT:no residual disease at 2 years after diagnosis.