smarca4 deficient thoracic sarcoma pathology outlines

SMARCA4-deficient thoracic sarcomas can be identified based on their distinctive high-grade rhabdoid morphology, and the diagnosis can be confirmed by immunohistochemistry. Due to its unique clinical characteristic with aggressive thoracic tumor mostly observed in heavy smoker man with emphysema, with poor prognosis, many physicians are becoming increasingly aware of the disease; however, reports on 2-deoxy-2-[18F] fluoroglucose . SMARCA4-UT Definition SMARCA4 -deficient sarcomas refer to high-grade malignancies underlined by inactivating mutations of the tumor suppressor gene SMARCA4. SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently described entity with an aggressive clinical course and specific genetic alterations of the BAF chromatin remodeling complex. Summary Staging outlines, Tumor #1: Histologic Type: Invasive ductal carcinoma, no special type, in association with solid papillary carcinoma. Methods We collected six SMARCA4-deficient undifferentiated tumors diagnosed on adrenal sampling. SMARCA4 ( SWI / SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) encodes a protein involved in chromatin remodeling, which is important for regulating the binding of transcription factors to DNA (also known as BRG1 and hSNF2, amongst others; NCBI Gene ID: 6597 ) SMARCA4-deficient undifferentiated tumor has distinct clinicopathologic features. Correspondence . Discussion and conclusions SMARCA4-DTS is a group of diseases first reported by Le Loarer et al. ASJC Scopus subject areas A woman in her early 30s developed two intrathoracic masses. Abbreviations: SMARCA4-UT, SMARCA4-deficient thoracic sarcoma; TME, tumor microenvironment. Results: Identification of these tumors is clinically relevant due to their aggressive behavior, poor prognosis, and potential targeted therapy. ","Patient was diagnosed on biopsy with lentigo maligna melanoma of the nasal dorsum. In the present study, we reviewed the clinical and pathologic features of 30 cases of SMARCA4-DTS, discussed its main differential diagnoses and the . SMARCA4-deficient thoracic sarcoma is a recently proposed new entity of soft tissue sarcomas with an undifferentiated round cell morphology that is diagnostically challenging. Thoracic SMARCA4-deficient undifferentiated tumor (UT) Originally known as SMARCA4-deficient thoracic sarcoma (DTS) Young to middle-aged adults (median, 40y) Large tumors in the thoracic cavity . Abstract SMARCA4deficient thoracic sarcoma (SMARCA4DTS) is a recently recognized entity with undifferentiated rhabdoid morphology and mutations in the switch/sucrose nonfermenting BRG1associated. Such tumors were initially described in the central nervous system as a genetic variant of malignant rhabdoid tumors (Hasselblatt et al. MeSH terms Adult Aged Aged, 80 and over SMARCA4/BRG1-deficient sarcomas showed rare cells positive for cytokeratin in 10 cases (83%). in 2015 [1]. Analysis of the Immune Infiltrate in an Independent Cohort. Probably the best known and most extensively studied example of a SMARCA4-deficient tumor is small cell carcinoma of the ovary-hypercalcemic type (SCCOHT), which shows many overlapping morphologic,. One showed rare TTF1-positive cells. SMARCA4-UT is a rare and recently established disease. These mediastinal SMARCA4-deficient malignancies often present with bulky tumor burden that may involve mediastinal, intra . Pathology 2015; Donner, Hum Pathol 2007. dSMARCA4 uterine endometrioid ADC SMARCA4 lost. Abstract SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently described entity with an aggressive clinical course and specific genetic alterations of the BAF chromatin remodeling complex. Their study investigated un- classified sarcoma by RNA sequencing and found that 19 cases showed inactivation of SMARCA4, which en- codes the ATPase subunit of the BAF chromatin remod- eling complex. We describe our experience with primary diagnosis on adrenal sampling. SMARCA4-Deficient Thoracic Sarcomas are extremely rare tumor types The tumor is noted in adults in the age group 28 to 90 years; median age being 41 years The male to female ratio is 9:1, and hence, only 10% of the cases have been reported in women Current studies do not show any racial or ethnic predilection for this tumor type As well as, Tumor #2: Histologic type: Invasive ductal carcinoma, no special type. AB - Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) are aggressive neoplasms that most commonly occur in the mediastinum of male smokers. In the present study, we reviewed the clinical and pathologic features of 30 cases of SMARCA4-DTS, discussed its main differential diagnoses and the . CD34 was. Computed tomography scan of SMARCA4-deficient thoracic sarcomas showed large tumors involving the thoracic structures such as the chest wall (a, case 1), the mediastinum, and/or the lung (b, case . Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UT, formerly called "SMARCA4-deficient thoracic sarcoma") are very aggressive tumors which most commonly occur in the mediastinum of male smokers ( 1 - 3 ). We present a case of a SMARCA4-DTS in a 59 year-old male with a heavy smoking history who was found to have an SMARCA4, a central component of the SWI/SNF chromatin-remodeling complex, has been identified as a tumor suppressor gene [227,228]. This tumor is characterized by inactivating mutations of SMARC4, a gene encoding the ATPase subunit of the switch/sucrose non-fermenting (SWI/SNF) chromatin remodelling complexes. 2011 ). Morphologic and immunohistochemical features of SMARCA4-deficient thoracic sarcoma. These tumors are characterized by an inactivating mutation in the SMARCA4 gene which encodes brahma-related gene 1 (BRG1). While it is difficult to diagnose, it is necessary to distinguish undifferentiated carcinoma, large cell carcinoma, Ewing sarcoma, and epithelioid sarcoma when diagnosing tumors involving the mediastinum. Target, disease and ligand information are collected and displayed. Most patients tend to be young adults with a heavy smoking history. Immunostains for SMARCA4, SF-1, inhibin, calretinin, S-100 protein, EMA, and TTF-1 were performed. Several rhabdoid tumors were found to carry inactivating mutations, while SMARCA4 expression is silenced in many human tumor cell lines and tumor tissue. As already mentioned, in the latest edition of WHO classification of thoracic tumors, the pathology community chose to not use anymore the term "sarcoma" to described this entity, . Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) are aggressive neoplasms that most commonly occur in the mediastinum of male smokers. SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a distinct subset of intrathoracic tumors, recognised for the first time in 2015 by Le Loarer et al. Moreover, cases of SMARCA4-UT with ganglioneuroma and enchondroma are very rare. In this study, we present a case of SMARCA4-UT with vertebral and chest wall invasion that successfully underwent conversion surgery after treatment with atezolizumab in combination with bevacizumab . The only available documentation of the subsequent surgery is a single pathology report with the nasal dorsum "staged excision (debulking specimen)" and four additional "staged excision" specimens of the same site. Here we report a case of this tumor where the diagnosis was established using limited samples and resources. This tumor is characterized by inactivating mutations of SMARC4, a gene encoding the ATPase subunit of the switch/sucrose non-fermenting (SWI/SNF) chromatin remodelling complexes. Bruce D. Leckey Jr., DO, Division of Dermatopathology, Department of Pathology, Duke University Medical Center, Box 3712 Durham, NC 27710. 10 The term thoracic SMARCA4-deficient undifferentiated tumor is now favored. In the present study, we reviewed the clinical and pathologic features of 30 cases of SMARCA4-DTS, discussed its main differential diagnoses and the . While originally described as "sarcoma," authors have recently argued that most cases represent smoking-related undifferentiated carcinomas. These tumors are characterized by an inactivating mutation of SMARCA4 resulting in loss of expression of brahma-related gene 1 (BRG1). Identification of these tumors is clinically relevant due to their aggressive behavior, poor prognosis, and potential targeted therapy. . We identified 22 SMARCA4-deficient thoracic sarcomatoid tumors (SD-TSTs) with round cell and/or rhabdoid morphology and 45 SD-NSCCs, and comprehensively analyzed their clinicopathologic, immunohistochemical, and genomic characteristics using 341-468 gene next-generation sequencing and other molecular platforms. Abstract SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently described entity with an aggressive clinical course and specific genetic alterations of the BAF chromatin remodeling complex. SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently described entity with a poor prognosis that is defined by certain genetic alterations in the BAF chromatin remodeling complex, specifically SMARCA4and SMARCA2. [ 1 ]. Large monotonous tumor cells arranged in sheets with frequent mitoses (A); diffuse and strong expression of SALL4 (B), SOX2 (C), and CD34 (D) in tumor cells (hematoxylin-eosin, original magnification 400 [A]; original magnifications 400 [B and D] and 200 [C]). SMARCA4-deficient thoracic tumor (SMARCA4-DTT) is a distinct entity of undifferentiated thoracic malignancies newly introduced in 2015. Identification of these tumors is clinically relevant due to their aggressive behavior, poor prognosis, and potential targeted therapy. Department of Pathology, Duke University Medical Center, Durham, North Carolina. SMARCA4-DTS is a newly defined entity that was originally discovered in 2015 that shows an inactivation in the SMARCA4 gene and mostly involves the mediastinum, lung, and/or the pleura and has a poor prognosis with a median survival time of 6 to 7 months. SMARCA4-deficient thoracic sarcomas can be identified based on their distinctive high-grade rhabdoid morphology, and the diagnosis can be confirmed by immunohistochemistry. SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently described entity with an aggressive clinical course and specific genetic alterations of the BAF chromatin remodeling complex. SMARCA4-deficient thoracic sarcomas can be identified based on their distinctive high-grade rhabdoid morphology, and the diagnosis can be confirmed by immunohistochemistry. All were negative for desmin, NUT, and S-100 protein. This tumor is diagnosed as SMARCA4-UT. Abstract SMARCA4deficient thoracic sarcoma (SMARCA4DTS) . See Discussion. SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a distinct subset of intrathoracic tumors, recognised for the first time in 2015 by Le Loarer et al. Skip to Article Content; Skip to Article Information; Search . A SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rapidly progressing subtype of lung cancer with a poor prognosis and causes early postoperative recurrence among operable patients. A distinct subset of thoracic sarcomas with undifferentiated rhabdoid morphology and SMARCA4 inactivation has recently been described, and potential targeted therapy for SMARC-deficient tumors is . SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently described entity with an aggressive clinical course and specific genetic alterations of the BAF chromatin remodeling complex. Additional findings include ductal carcinoma in situ (DCIS): presently approximately 3.3 cm, spanning slices 10-13. Pharos is the web interface for data collected by the Illuminating the Druggable Genome initiative. The case of a 66-year-old male smoker who presents with mediastinal and left suprahilar masses and widespread metastatic disease is reported, and rare cases of successful treatment with anti-PD-1 inhibitors are described. doi: 10.1097/PAS.0000000000001188. [ 1 ].