SMARCB1 negative

Multimodality sequencing, including NGS, MLPA, and OGM, was required to ensure appropriate diagnosis of mosaic NF2-related schwannomatosis in this patient. A similar approach can be used for other patients with multiple ipsilateral tumors and suspected tumor predisposition.

P2, N=30, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting | Trial completion date: Jan 2024 --> Jan 2025 | Trial primary completion date: Jan 2024 --> Jan 2025

P2, N=10, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Jul 2024 --> Jul 2025 | Trial primary completion date: Jul 2024 --> Jul 2025

P2, N=10, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Jul 2023 --> Jul 2024 | Trial primary completion date: Jul 2023 --> Jul 2024

Further, reconstitution of SMARCB1 restored renal tumor sensitivity to hypoxic stress in vitro and in vivo. Together, our results demonstrate a physiological role for SMARCB1 degradation in response to hypoxic stress, connect the renal medullary hypoxia induced by SCT with an increased risk of SMARCB1-negative RMC, and shed light into the mechanisms mediating the resistance of SMARCB1-null renal tumors against angiogenesis inhibition therapies.

Here we describe SMARCB1-negative PTCL-NOS as a potential new molecular subtype of PTCL-NOS significantly enriched in young patients. A strong concordance between naturally occurring SMARCB1-deficient PTCL in humans and in the targeted mouse model were found regarding epigenetic features. Our results provide a rationale for further investigation of potential HDACi combination therapies in SMARCB1-negative PTCL-NOS.

Our novel findings support a model where SMARCB1 inactivation blocks the conversion of growth-promoting SWI/SNF complexes to differentiation-inducing ones and implicate SMARCB1 loss as a late event in tumorigenic progression. Importantly, the absence of growth inhibition after SMARCB1 restoration creates a unique opportunity to identify therapeutic vulnerabilities.

This is the first report of a case of SMARCB1-negative rhabdoid colon carcinoma with high MSI treated with pembrolizumab. Rhabdoid carcinoma is highly aggressive; therefore, additional studies are required to determine the therapeutic strategy for SMARCB1-negative rhabdoid colorectal carcinoma.

Thus, explaining the molecular mechanism and potential role of transcriptional inhibition and immunologic responses to SMARCB1/INI1-negative poorly differentiated chordoma will be available for preclinical experiments and clinical trials and lead to new therapeutic opportunities for chordoma patients.

P2, N=10, Active, not recruiting, M.D. Anderson Cancer Center | Trial primary completion date: Jul 2022 --> Jul 2023

P2, N=30, Recruiting, M.D. Anderson Cancer Center | Not yet recruiting --> Recruiting

Spinal cord metastasis may manifest with different clinical signs. Our case shows a rare manifestation of SMARCB1-deficient sinonasal carcinoma, a new subtype of sinonasal carcinoma, summarizing the importance of a high grade of suspicion of spinal cord invasion on these patients. SMARCB1 sinonasal carcinomas are rare new tumors of the head and neck, whose biological behaviors are yet to be explored. To the best of our knowledge, this is one of the few case reports describing simultaneous spread of this tumor to the central nervous system and spinal cord.

P2, N=30, Not yet recruiting, M.D. Anderson Cancer Center

P2, N=10, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting | N=30 --> 10

P2, N=30, Recruiting, M.D. Anderson Cancer Center | Trial completion date: Jan 2023 --> Jan 2024 | Trial primary completion date: Jan 2022 --> Jan 2024

P2, N=30, Recruiting, M.D. Anderson Cancer Center | Trial completion date: Jan 2021 --> Jan 2023 | Trial primary completion date: Jan 2021 --> Jan 2022

A low threshold for FH, 2SC, and SDHB immunohistochemistry is recommended in difficult to classify RCCs, particularly those with eosinophilic morphology, occurring in younger patients. Current evidence does not support existence of a unique tumor subtype occurring after chemotherapy/radiation in early childhood.

P2, N=30, Recruiting, M.D. Anderson Cancer Center | Trial completion date: Jul 2020 --> Jul 2023 | Trial primary completion date: Jul 2020 --> Jul 2022