Spotlight on SMARCB1-deficient
Sinonasal Carcinoma
(SDSC)
An Underrecognized
SMARCB1 Entity
SDSC is one of the lesser-known members of the SMARCB1 cancer family, yet it touches a broader age group (from adolescence to old age) than most of the others. First described in 2014, and with fewer than 200 cases reported worldwide, SDSC remains an underrecognized distinct sinonasal tumor entity. Many pathologists and oncology teams, including those with experience in head and neck pathology, have little or no experience with it.
Often confused with other sinonasal tumors, SDSC is challenging to diagnose on morphology alone, and several extra biopsy genetic tests than would ordinarily be done are required. SDSC is often misdiagnosed, yet getting a correct diagnosis early on is very important to establish the best treatment plan possible. SMARCA4-deficient sinonasal carcinoma, a very similar tumor entity of the same family, is even less known than SDSC.
Differential diagnoses for SDSC include: sinonasal undifferentiated carcinoma (SNUC), poorly differentiated sinonasal carcinoma, NUT midline carcinoma, myoepithelial carcinoma, high grade neuroendocrine carcinoma, HPV-related multiphenotypic sinonasal carcinoma, adamantinoma-like Ewing sarcoma, and others.
We want to hear from you. Please contact us and we will get back to you quickly.
Medical & Research Centers for SDSC
If you or a loved one has received an SDSC diagnosis or would like a second reading of your sinonasal tumor biopsy, below is an initial list of contacts at hospitals and research centers with SMARCB1 and SDSC knowledge and experience. Because SMARCB1-deficient cancers have historically been more studied in the pediatric population, specialized pediatric oncologists are often well placed to put young adult and older patients in touch with the right specialists. Do not hesitate to reach out to them for help and guidance, regardless of your age and where you live.
This is a growing list. Please get back to us with other contacts and centers, so we can help patients the world over get the best care possible!
Sinonasal Cancer Support Groups
Please note that awareness and understanding of SDSC is limited or inexistant, even in some of these groups. Help spread the word!
SMARCB1 Hope
SMARCB1 Ini1-deficient sinonasal carcinoma
SNUC Family
Sinus Cancer Support
Sinus and Nasal Cancer Support & Awareness
CORSICA
REFCOR
Corasso
Corasso Echangeons
Head and Neck Cancer Research Trust
Head and Neck Cancer Alliance
The Swallows Head & Neck Cancer Support Group
Ashley’s Purple Star Foundation Dedicated to Finding a Cure for SNUC
Scientific Publications
SMARCB1-deficient Sinonasal Carcinoma
Impact of Clinical Factors and Treatments on SMARCB1 (INI-1)-Deficient Sinonasal Carcinoma
SMARCB1 (INI-1)-Deficient Sinonasal Carcinoma: A Systematic Review and Pooled Analysis of Treatment Outcomes
Outcomes of SMARCB1-deficient sinonasal carcinoma: Largest single-center cross-sectional study
(INI-1)-deficient Sinonasal Carcinoma: A Series of 39 Cases Expanding the Morphological and Clinicopathological Spectrum of a Recently Described Entity
INI‐1 (SMARCB1)–Deficient Undifferentiated Sinonasal Carcinoma: Novel Paradigm of Molecular Testing in the Diagnosis and Management of Sinonasal Malignancies
Assessment of targeted therapy opportunities in sinonasal cancers using patient-derived functional tumor models
A Case of SMARCB1-Deficient Sinonasal Carcinoma With Clear Cell Morphology
DNA methylation-based classification of sinonasal tumors
SMARCB1/INI1 Deficient Sino-Nasal Carcinoma: Extending the Histomorphological Features
Biomarkers for Immunotherapy in Poorly Differentiated Sinonasal Tumors
Immunotherapy in SMARCB1 (INI-1)-deficient sinonasal carcinoma: Two case reports
SMARCB1-deficient sinonasal adenocarcinoma: a rare variant of SWI/SNF-deficient malignancy often misclassified as high-grade non-intestinal-type sinonasal adenocarcinoma or myoepithelial carcinoma
Sinonasal Cancer: Improving Classification, Stratification and Therapeutic Options
Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: SWI/SNF-deficient Sinonasal Neoplasms: An Overview
SMARCB1(INI1)-deficient Sinonasal Basaloid Carcinoma
A Novel Member of the Expanding Family of SMARCB1-deficient Neoplasms
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