Table 3 Comparison of clinicopathologic features of SWI/SNF complex-deficient tumors
Age | Location | Main molecular abnormality | Germline association | Prognosis | Non-germline risk factors | |
|---|---|---|---|---|---|---|
Usually infants <1 year, rarely adolescents and adults | Kidney, liver, head and neck | SMARCB1 in 95%, rare cases with SMARCA4 | SMARCB1 deletion in 15–30% | Poor; 31% of patients survive 1 year | Low birthweight, preterm birth | |
Small cell carcinoma of the ovary, hypercalcemic type [1,2,3,4, 33,34,35] | Mean 24 years (range 14 months–71 years) | Ovary | SMARCA4 | SMARCA4 mutation in 8%-50% | Poor; almost all patients greater than stage 1A die from disease; 10–20% overall survival | None |
Usually under 3 years, rarely adolescents and adults | CNS | Usually SMARCB1, rarely SMARCA4 | SMARCB1 mutation in 35% | Poor; median survival 8 months | Low birthweight, increased maternal age, higher parental socioeconomic status | |
Proximal-type epithelioid sarcoma [39] | Median 40 years (range 13–80 years) | Inguinal region, thigh, vulva | SMARCB1 | None | Local recurrences common; median survival 6 years | History of trauma in some cases |
Median 39 years (27–82 years) | Thorax | SMARCA4 mutations and LOH; TP53 mutations | None | Poor; median survival 7 months | Heavy smoking | |
Mean 59 years (range 40–69 years) | Endometrium | KRAS, PTEN, CTNNB1, MMR proteins, ARID1A SMARCA4, SMARCB1 | None | Stage dependent; survival of months to years | Unknown | |
SMARCA4-deficient uterine sarcoma | Mean 36 years (range 25–58 years) | Uterus | SMARCA4 | Unknown | Poor; average survival ~6 months | Unknown, possibly radiation therapy |
