Case 59

A 87-year-old female with abnormal uterine bleeding and she was found to have a large cervical mass.

1. What's the possible diagnosis?

   A: High grade carcinoma

   B: Lymphoma

   C: Sarcoma-leiomyosarcoma

   D: Endometrial stromal sarcoma

   E: IMT

   F: Ewing sarcoma

   G: EWSR-non ETS sarcomas

   H: Myoepithelioma

   I: EMC

   J: SMARCA4 deficient sarcoma

   
   

IHC

• Pan-keratin
• SOX10
• INI1 (SMARCB1)
• BRG1 (SMARCA4)

See All Options

1. The tumors are positive for BCOR and focal positivity for Cyclin D1, negative for CD10, SMA, S100, ER.

   What's the favored diagnosis?

   A: HGESS with YWHAE rearrangement

   B: HGESS with BCOR fusion

   C: HGESS with BCOR ITD

   D: HGESS, NOS

   
   

Answer:

This is a very challenging case of HGESS with BCOR ITD, and the tumors are BCOR（+），BRG1（+），Caldesmon（-），CD10（-），CD34（-），CR（-），CyclinD1（Focal positive），Des（-），ER（-），inhibin-a（-），INI-1（+），Ki-67（25%），Pan CK（-），Pan-TRK（+/-），PR（focal+），S-100（-），SMA（-）. The final answer really needs molecular confirmation.

Here is the summarize of WHO on this topic of HGESS:

Tumour Type

Morphological/Clinical Features

Immunophenotype

YWHAE-NUTM2A/B Fusion Tumours

- Growth: Can be expansile, permeative, or infiltrative (often more than one pattern). - Frequently show lymphovascular invasion, brisk mitotic activity, and necrosis. - Cells: Round cells with eosinophilic cytoplasm; high-grade nuclei with irregular contours, vesicular chromatin, and variably distinct nucleoli. - May be associated with a fibromyxoid or conventional low-grade endometrial stromal component. - Rare features: pseudopapillary/glandular architecture, rhabdoid morphology, pseudorosettes, and sex cord–like differentiation.

- Positive for: Cyclin D1, BCOR, KIT, CD56, CD99. - Negative for: DOG1.

ZC3H7B-BCOR High-Grade Sarcomas

- Morphology details are less emphasized. - Typically do not have a low-grade endometrial stromal component mentioned here.

- Positive for: Cyclin D1 (typically diffuse), CD10 (diffuse positivity). - About 50% express BCOR. - Variable positivity for: ER and PR. - Focal positivity for: SMA and caldesmon. - Negative for: Desmin. - May show pan-TRK staining (unrelated to NTRK rearrangement).

BCOR ITD Tumours

- Limited morphological details available; only a few cases reported. - Noted to have a distinct profile compared to ZC3H7B-BCOR tumours.

- Diffusely positive for: Cyclin D1 and BCOR. - Less positive for: CD10. - Negative for: ER and PR. - May express: Desmin. - Negative for: SMA and caldesmon.

High-Grade Endometrial Stromal Sarcoma NOS

- Defined as a high-grade sarcoma that is associated with a low-grade endometrial stromal component.

- Specific immunophenotype details are not provided here; however, it is summarized in #10706Table alongside the other tumour types.

References: https://tumourclassification.iarc.who.int/chaptercontent/34/246

Case credit: https://qp.91360.com/10074.html?lang=en

Author: Wangpan Shi, MD