What tumors have advanced SMARCB1 loss?

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asked Sep 30, 2023 in Diseases Conditions by chickenricky (1,260 points)
What tumors have advanced SMARCB1 loss?

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answered Oct 14, 2024 by Divinelite (6,960 points)
The tumors that have advanced SMARCB1 loss are Rhabdoid tumors, Epithelioid sarcoma and Renal medullary carcinoma.

Renal medullary carcinoma is a rare and aggressive kidney cancer that results in a loss of SMARCB1 expression and typically develops in young adults that have the sickle cell trait.

Epithelioid sarcoma is a rare soft tissue sarcoma that is a result of a loss of SMARCB1 expression and typically appears as a painless nodule in the distal extremities of young adults.

Rhabdoid tumors are tumors that are a result of a loss of SMARCB1 expression and are most often found in the spinal cord, kidney or brain.

Rhabdoid tumors are one of the most aggressive childhood cancers and are also associated with high mortality.

The SMARCB1 gene mutation is a gene mutation that causes Coffin-Siris Syndrome which is a condition that causes delayed development and abnormalities of the pinky fingers or toes and also causes characteristic facial features which are described as coarse.

SMARCB1 deficient sinonasal carcinoma is an emerging poorly differentiated/undifferentiated sinonasal carcinoma that cannot be better classified as another specific tumor type and has consistent histopathological findings (albeit with some variability) with varying proportions of plasmacytoid/rhabdoid cells.

People with SMARCB1-deficient sinonasal carcinoma receive a combination of chemotherapy, radiotherapy, and surgical excision similar to other undifferentiated or poorly differentiated tumors of the sinonasal tract.

However, the outcome for these people is poor with a 5-year survival rate of 34.9%

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