Gene mutations were identified in some of the cases, for instance CDKN2A and CDKN2B genes deletion, as well as KRAS and TP53 genes mutation. This tumor is highly aggressive, 75.0% (6/8) of the cases recurred or dead within one year of diagnosis.
Red degeneration should be part of the differential diagnosis when a postpartum woman presents with an abdominopelvic mass, especially if she has a known fibroid. This case underscores the importance of integrating clinical, biochemical, and radiologic data in the diagnosis of uterine fibroids - while remaining open to alternate benign diagnoses at the same time - to avoid overtreatment or delayed appropriate management.
IHC and molecular analyses are crucial for an accurate diagnosis, particularly in tumors with heterologous elements that may mimic other sarcomas or germ cell tumors. Early recognition and multidisciplinary management optimize local control and surveillance planning.
Aggressive surgery does not improve survival when tumor markers normalize. Diagnostic delays remain common, emphasizing the need for improved awareness and referral systems in China.
In our patient cohort TP53 was the most frequently mutated gene (5 out of 8, 62.5%) and PD-L1 expression showed a positive score in 3 out of 6 patients (50%). However, only a few patients received immunotherapy (6 out of 14, 42.9%) suggesting that the numbers are too small to draw a conclusion about its efficacy in treating HAC.
P=N/A, N=1000, Recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Jan 2026 --> Jan 2028 | Trial primary completion date: Jan 2026 --> Jan 2028
10 days ago
Trial completion date • Trial primary completion date
These results support the existence of PGC-like cells that within the normal pituitary gland. This study provides new insights into the cellular origins of iGCTs and suggests further investigation into the regulatory mechanisms that may lead to tumorigenesis.