Uterine Sarcoma Gene Mutations Detection Kit-Xiamen Spacegen Co., Ltd. | Precision Medical Testing & Genetic Disease Diagnosis Solutions

Next Generation Sequencing

Uterine Sarcoma Gene Mutations Detection Kit

Assist in the classification and prognosis of uterine sarcoma subtypes; Detect targeted therapy genes to assist in the formulation of clinical treatment plans.

GENE MUTATION AND TUMOR

Uterine sarcoma is a kind of malignant mesenchymal tissue-derived tumor, accounting for about 1% of all female genital tract malignant tumors, accounting for 3% to 7% of uterine malignant tumors ^[1]. The overall prognosis of uterine sarcoma is poor. The 5-year survival rate of stage I-II is 45-50 %, and the 5-year survival rate of advanced stage is 0-15 % ^[2]. The histological types of uterine sarcoma are complex. Uterine leiomyosarcoma ( uLMS ) is the most common (40 %~50%), followed by low-grade endometrial stromal sarcoma ( LGESS ) ^[1], and there are more than ten other rare subtypes.

The pathological diagnosis of uterine sarcoma indicates that there is cross-expression between immunohistochemical markers of different types of uterine sarcoma. Molecular detection is recommended for conditional units, and second-generation sequencing is one of the main detection methods. For some previously unclassified uterine sarcomas or newly emerging subtype classifications, the diagnosis requires the support of molecular test results ^[3]. Previous studies have found that TP53, RB1, ATRX, PTEN and BRCA2 gene mutations / deletions are common in uLMS^[4], while multiple forms of gene fusion are more common in ESS ^[5].

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In addition to auxiliary typing and prognosis, the NCCN guidelines recommend that comprehensive genomic testing can be used for metastatic patients to find opportunities for targeted therapy of pan-cancer species. For patients with recurrence, metastasis, and inoperability, TRK inhibitors can be used for tumors with positive NTRK gene fusion, ALK inhibitors can be used for inflammatory myofibroblastic tumors ( IMT ) with ALK translocation, and PARP inhibitors can be used for Leiomyosarcoma （LMS） with BRCA ( mainly BRCA2 ) mutations. ^[5]

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[1] Guideline for diagnosis and treatment of uterine sarcoma（2021）

[2] Pathology. 2007 Feb;39(1):55-71.

[3] Specification for pathological diagnosis of uterine sarcoma

[4] Clin Cancer Res. 2020 Jul 15;26(14):3881-3888.

[5] NCCN Uterine Neoplasms Guidelines 2024 v3

[6] Geburtshilfe Frauenheilkd. 2021 Oct;81(10):1145-1153.

CORE GENECORE^[5-6]

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PRODUCT INFORMATION

High-throughput sequencing was used to detect 37 genes at the DNA level, including copy number variation ( CNV ) of 6 genes. The known and unknown fusion types of 129 common breakpoints of 28 genes were detected at the RNA level.

Product Name

Core Technology

Pack Size

Instruments Validated

Sample Type

Uterine Sarcoma Gene Mutations Detection Kit

RingCap® Unilateral primer reverse transcription

16 Tests/Kit; 32 Tests/Kit

Illumina, MGI, Sikun,etc.

Tumor tissue

DETECTION SIGNIFICANCE

1.Auxiliary uterine sarcoma subtype classification and prognosis interpretation ;