Fusion-driven Spindle Cell Rhabdomyosarcomas of Bone and Soft Tissue: A Clinicopathologic and Molecular Genetic Study of 25 Cases.

Background Nuclear protein of the testis (NUT) carcinoma is a rare subset of poorly differentiated, highly aggressive malignancy defined by NUTM1 gene rearrangements. Only three NUT cases of probable ovarian origin have been reported. Case presentation We report a case of NUT carcinoma in a 53-year-old female who presented with extensive abdominopelvic lesions and bilateral ovarian masses suggestive of advanced ovarian cancer. This patient was admitted to our hospital due to abdominal pain and distension for over two months. Imaging examinations suggested a possible malignancy of bilateral adnexal origin. This patient first underwent diagnostic laparoscopy. After receiving neoadjuvant chemotherapy, she underwent cytoreductive surgery. Surgical pathology showed infiltration of monotonous round tumor cells with no apparent differentiation characteristics. Immunohistochemistry (IHC) revealed nuclear expression of the NUT protein. And MXI1::NUTM1 fusion was identified by next-generation sequencing (NGS). Herein, we introduce an unusual NUT carcinoma and describe the clinical, imaging, and pathological features. In addition, we briefly reviewed the published literature and discussed the possibility of primary gynecological NUT carcinoma. Conclusions Identifying a NUT carcinoma arising from the abdominopelvic cavity is essential, and we underscore the need for NUT testing in undifferentiated malignant neoplasms that appear in this clinical setting. Although it is unclear from which origin this tumor arose, proper classification is essential for treatment planning.

https://www.frontiersin.org/articles/10.3389/fonc.2022.1091877/pdf

Case report: NUT carcinoma with MXI1::NUTM1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle-aged female

Rhabdomyosarcoma with TFCP2 rearrangement is a recently identified malignant neoplasm characterized by immunohistochemical evidence of rhabdomyoblastic differentiation, keratin expression, upregulation of ALK, and an aggressive clinical course. This neoplasm has a tendency to affect craniofacial bones, with only a few reported cases of extra-osseous tumors. Here, we present a case of cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion in a 35-year-old female. Notably, the tumor exhibited a pathologic spectrum, initially resembling sclerosing dermatitis at presentation but progressing into a high-grade malignant tumor within 8 months. The distinctive immunoprofile of this neoplasm highlights the importance of early molecular studies for diagnosis, even in the presence of low-grade cytomorphology. Early detection may offer an opportunity for timely resection before the tumor becomes unresectable.

Cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion: A case report emphasizing early detection.

Rhabdomyosarcoma (RMS) with EWSR1/FUS::TFCP2 fusion is an emerging, molecularly defined, rare subtype of RMS. It can affect patients in a wide age range and follows an aggressive clinical course according to the reported cases. Due to its unusual clinical and pathohistological features, with a typical intraosseous presentation and common cytokeratin expression, the diagnosis is challenging, and metastatic undifferentiated/sarcomatoid carcinoma can be an important differential diagnosis. We report here a case of a 55-year-old woman with an RMS with EWSR1::TFCP2 fusion mimicking metastatic lung cancer in view of the clinical and microscopic presentation. However, further molecular workup, including RNA sequencing, led to the proper diagnosis. Although these tumors are rare, knowledge of their unique features is essential for correct diagnosis as a basis for clinical management and optimization of therapeutic approaches. 

Epithelioid and spindle cell rhabdomyosarcoma with EWSR1::TFCP2 fusion mimicking metastatic lung cancer: A case report and literature review

Rhabdomyosarcoma (RMS) with TFCP2 rearrangement has been identified recently. This entity has a distinctive clinicopathologic features: a rapidly aggressive clinical course, a preference for the craniofacial bones, a spindle and epithelioid histomorphology, and positive immunohistochemistry for epithelial markers, ALK, and myogenic markers. RMS with TFCP2 rearrangement is rare and may be misdiagnosed as other spindle cell tumors. Here, we report a case of this entity arising in the mandible, which was initially diagnosed as ossifying fibroma in primary tumor in another hospital. A 26-year-old man presented with a recurred mass in the mandible for 1 month after the operation of mandibular tumor. The first excisional specimen was initially diagnosed as ossifying fibroma in another hospital. Histopathologic examination revealed the tumor with a hybrid spindle cell and epithelioid cytomorphology, spindle cells and spindle-to-epithelioid cells with eosinophilic and rich cytoplasm, with high-grade features, prominent nucleoli and some atypical mitosis. Immunohistochemical analysis revealed positivity for desmin, MYOD1, pan-keratin, ALK (5A4), ALK (D5F3). Based on the morphology and immunophenotype, molecular studies were performed, which revealed a FUS::TFCP2 fusion transcript, confirming the diagnosis of Rhabdomyosarcoma with FUS::TFCP2 fusion. Making a correct diagnosis is primarily dependent on awareness by the pathologist of this rare subtype of RMS and careful histopathological evaluation, supported by immunohistochemical and molecular analysis, to avoid potential diagnostic pitfalls. 

Rhabdomyosarcoma With FUS::TFCP2 Fusion in the Mandible: A Rare Aggressive Subtype, but Can Be Misdiagnosed as Ossifying Fibroma

Abstract Background A recurrence-free survival (RFS) prediction model was developed and validated for patients with locally advanced esophageal squamous cell carcinoma treated with neoadjuvant chemoradiotherapy (NCRT) in combination with surgery. Patients and Methods We included 282 patients with esophageal squamous cell carcinoma who received neoadjuvant chemoradiotherapy (NCRT) combined with surgery, constructed three models incorporating pathological factors, investigated the discrimination and calibration of each model, and compared the clinical utility of each model using the net reclassification index (NRI) and the integrated discrimination index (IDI). Results Multivariable analysis showed that pathologic complete response (pCR) and lymph node tumor regression grading (LN–TRG) ( p &lt; 0.05) were independent prognostic factors for RFS. LASSO regression screened six correlates of LN-TRG, vascular invasion, nerve invasion, degree of differentiation, platelet grade, and a total diameter of residual cancer in lymph nodes to build model three, which was consistent in terms of efficacy in the training set and validation set. Kaplan–Meier (K–M) curves showed that all three models were able to distinguish well between high- and low-risk groups ( p &lt; 0.01). The NRI and IDI showed that the clinical utility of model 2 was slightly better than that of model 1 ( p &gt; 0.05), and model 3 was significantly better than that of model 2 ( p &lt; 0.05). Conclusions Clinical prediction models incorporating LN-TRG factors have high predictive efficacy, can help identify patients at high risk of recurrence after neoadjuvant therapy, and can be used as a supplement to the AJCC/TNM staging system while offering a scientific rationale for early postoperative intervention. 

Development and Validation of a Recurrence-Free Survival Prediction Model for Locally Advanced Esophageal Squamous Cell Carcinoma with Neoadjuvant Chemoradiotherapy

NUTM1-rearranged neoplasms (NRNs) have been identified in a variety of tumours, including NUT carcinomas (NC), sarcoma, porocarcinoma, and lymphoma. NC is an aggressive type of poorly differentiated carcinoma with a dismal prognosis, and commonly located in the chest or head and neck midline regions. The diagnosis is based on the NUT genetic rearrangement, mainly including bromodomain (BRD)4NUT midline carcinoma family member 1 (NUTM1) fusion, and BRD3-NUTM1 fusion. Recently, the fusion between the NUTM1 gene and members of the MAX Dimerization (MAD) gene family have been reported in the digestive tract or parenchyma organ, such as oesophagus, stomach, and colorectal. The identification of the novel fusion partner of the NUTM1 gene would further expand the morphologic and genetic spectrum of NRNs. Herein we describe an undifferentiated small, roundcell tumour with a novel fusion between NUTM1 and MXI1 arising in the lower oesophagus in a young female patient and highlight the clinicopathologic and molecular features of this tumour. A 24-year-old woman, presented with progressive dysphagia with acid reflux for 9 months and weight loss. Computer tomography (CT) imaging revealed a 5.4 9 3.8 9 9.6 cm abnormal soft tissue mass located in the lower oesophagus with a clear boundary. The patient received an esophagectomy with a clear margin. The subsequent 4-month follow-up did not reveal local recurrence by clinical examination and positron emission tomography (PET)-CT imaging. Gross examination of the resection specimen showed a fleshy, grey-pink fish-like cut surface, infiltrating

Clinicopathologic features of an MXI1::NUTM1 fusion neoplasm; a new molecular variant of the family of NUTM1‐rearranged neoplasm

The aim of this study was to evaluate the clinicopathological features, immunophenotype, differential diagnosis, molecular genetic features and prognosis of spindle cell rhabdomyosarcoma with TFCP2 rearrangement.

Clinicopathological features of rhabdomyosarcoma with novel FET::TFCP2 and TIMP3::ALK fusion: report of two cases and literature review

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Development and Validation of a Recurrence-Free Survival Prediction Model for Locally Advanced Esophageal Squamous Cell Carcinoma with Neoadjuvant Chemoradiotherapy

Clinicopathologic features of an MXI1::NUTM1 fusion neoplasm; a new molecular variant of the family of NUTM1‐rearranged neoplasm

Clinicopathological features of rhabdomyosarcoma with novel FET::TFCP2 and TIMP3::ALK fusion: report of two cases and literature review