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1.
Head Neck ; 2024 Jul 31.
Article de Anglais | MEDLINE | ID: mdl-39086204

RÉSUMÉ

BACKGROUND: Sinonasal undifferentiated carcinoma (SNUC) is a rare, aggressive disease with ambiguous management and poor prognosis. This study aimed to evaluate the role of radiation therapy (RT) and explore the optimal treatment sequence. METHODS: Retrospective analysis of survival trends of 410 SNUC patients between 1973 and 2015. RESULTS: The 5-year cancer-specific survival (CSS) rate (45.1%) and overall survival (OS) rates (38.1%) were reported in the 84-month median follow-up. Radiotherapy was a prognosticator for improving CSS (hazard ratio [HR] = 0.425, 95% confidence interval [CI]: 0.299-0.603, p = 0.000) and OS (HR = 0.415, 95% CI: 0.303-0.570, p = 0.000), either with surgery (p = 0.000) or without surgery (p = 0.000). However, in a combined therapy of surgery and RT, preoperative and postoperative RT (5-year OS rates were 47.1% and 45.6%, respectively, p = 0.486) were not significantly different. CONCLUSIONS: Radiotherapy plays a key role in improving SNUC survival rates. No significant difference in survival rates was observed in preoperative and postoperative RT treatment.

2.
World J Surg Oncol ; 22(1): 189, 2024 Jul 24.
Article de Anglais | MEDLINE | ID: mdl-39049011

RÉSUMÉ

BACKGROUND: The aim of this study was to elucidate the histogenesis and genetic underpinnings of fibromatosis-like undifferentiated gastric carcinoma (FLUGC), a rare pathological entity. METHOD: Through a detailed analysis of seven cases, including histopathological evaluation, CTNNB1 gene mutation screening, human epidermal growth factor receptor 2 (HER2) protein level quantification, and HER2 gene amplification assessment to identify the pathological and molecular characteristics of FLUGC. RESULTS: Of the seven patients in this study, five were male and two were female (age: 39-73 years). Four patients presented with lesions in the gastric antrum and three had lesions in the lateral curvature of the stomach. Histopathologically, over 90% of the tumor consisted of aggressive fibromatosis-like tissue, including proliferating spindle fibroblasts and myofibroblasts and varying amounts of collagenous fibrous tissues. Undifferentiated cancer cells, accounting for less than 10%, were dispersed among the aggressive fibromatosis-like tissues. These cells were characterized by their small size and were relatively sparse without glandular ducts or nested mass-like structures. Immunophenotyping results showed positive expression of CKpan, CDX2, villin, and p53 in undifferentiated cancer cells; positive expression of vimentin in aggressive fibromatosis-like tissue; positive cytoplasmic expression of ß-catenin; and focal cytoplasmic positive expression of smooth muscle actin (SMA). Genetic analysis did not reveal any mutations in the CTNNB1 gene test, nor was there amplification in the HER2 gene fluorescence in situ hybridization (FISH) test. Additionally, the Epstein-Barr encoding region (EBER) of in situ hybridization was negative; and the mismatch repair (MMR) protein was positive. Programmed cell death-1 (PD-1) was < 1-5%; programmed cell death ligand 1 (PD-L1): TPS = 1-4%, CPS = 3-8. CONCLUSION: The study highlights the significance of CTNNB1, HER2, EBER, and MMR as pivotal genetic markers in FLUGC, underscoring their relevance for diagnosis and clinical management. The rarity and distinct pathological features of FLUGC emphasize the importance of accurate diagnosis to prevent underdiagnosis or misdiagnosis and to raise awareness within the medical community.


Sujet(s)
Marqueurs biologiques tumoraux , Récepteur ErbB-2 , Tumeurs de l'estomac , bêta-Caténine , Humains , Tumeurs de l'estomac/génétique , Tumeurs de l'estomac/anatomopathologie , Femelle , Adulte d'âge moyen , Mâle , Sujet âgé , Adulte , bêta-Caténine/génétique , bêta-Caténine/métabolisme , Marqueurs biologiques tumoraux/génétique , Marqueurs biologiques tumoraux/métabolisme , Récepteur ErbB-2/génétique , Récepteur ErbB-2/métabolisme , Pronostic , Mutation , Études de suivi , Fibrome/génétique , Fibrome/anatomopathologie , Fibrome/diagnostic
3.
Front Oncol ; 14: 1409197, 2024.
Article de Anglais | MEDLINE | ID: mdl-38962271

RÉSUMÉ

Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas (UCOGCP) is a rare pancreatic tumor that accounts for less than 1% of all pancreatic malignancies. The characteristic pathological manifestation of UCOGCP is the presence of osteoclast-like giant cells (OGCs) distributed among pleomorphic undifferentiated tumor cells. UCOGCP can occur either alone or in association with other types of pancreatic tumors. At present, there is no unified consensus or guideline for the diagnosis and treatment of UCOGCP, and most of the literature are individual case reports. With the accumulation in the number of clinical cases and the development of precision medicine technology, the understanding of UCOGCP is also deepening. Researchers have begun to recognize that UCOGCP is a pancreatic tumor with distinctive clinical and molecular characteristics. In this review, we focus on the latest research status and future exploration directions in the diagnosis, treatment, and prognosis of UCOGCP.

4.
World J Clin Oncol ; 15(6): 674-676, 2024 Jun 24.
Article de Anglais | MEDLINE | ID: mdl-38946831

RÉSUMÉ

Thyroid carcinoma is a complex disease with several types, the most common being well-differentiated and undifferentiated. The latter, "undifferentiated carcinoma", also known as anaplastic thyroid carcinoma (ATC), is a highly aggressive malignant tumor accounting for less than 0.2% of all thyroid carcinomas and carries a poor prognosis with a median survival of 5 months. BRAF gene mutations are the most common molecular factor associated with this type of thyroid carcinoma. Recent advances in targeted biological agents, immunotherapy, stem cell therapy, nanotechnology, the dabrafenib/trametinib combination therapy, immune checkpoint inhibitors (ICI) and artificial intelligence offer novel treatment options. The combination therapy of dabrafenib and trametinib is the current standard treatment for patients with BRAF-V600E gene mutations. Besides, the dabrafenib/trametinib combination therapy, ICI, used alone or in combination with targeted therapies have raised some hopes for improving the prognosis of this deadly disease. Younger age, earlier tumor stage and radiotherapy are all prognostic factors for improved outcomes. Ultimately, therapeutic regimens should be tailored to the individual patient based on surveillance and epidemiological data, and a multidisciplinary approach is essential.

5.
Head Neck ; 2024 Jul 05.
Article de Anglais | MEDLINE | ID: mdl-38967182

RÉSUMÉ

BACKGROUND: SWI/SNF complex-deficient sinonasal carcinomas are rare, genetically distinct, and aggressive entities. METHODS: SMARCB1 and SMARCA4 immunohistochemistry was retrospectively performed on a cohort of undifferentiated, poorly differentiated, and poorly defined sinonasal carcinomas. Survival outcomes were compared between SMARCB1/SMARCA4 (SWI/SNF complex)-deficient and -retained groups. RESULTS: Eight SWI/SNF complex-deficient (six SMARCB1-deficient, two SMARCA4-deficient) cases were identified among 47 patients over 12 years. Triple-modality treatment was more frequently utilized in SWI/SNF complex-deficient carcinomas than in SWI/SNF complex-retained carcinomas (71.4% vs. 11.8%, p = 0.001). After a median follow-up of 21.3 (IQR 9.9-56.0) months, SWI/SNF complex-deficient sinonasal carcinomas showed comparable recurrence rates (57.1% vs. 52.9%, p = 0.839), time-to-recurrence (7.3 [IQR 6.6-8.3] vs. 9.1 [IQR 3.9-17.4] months, p = 0.531), and overall survival (17.7 [IQR 11.8-67.0] vs. 21.6 [IQR 8.9-56.0] months, p = 0.835) compared to SWI/SNF complex-retained sinonasal carcinomas. CONCLUSION: Triple-modality treatment may improve survival in SWI/SNF complex-deficient sinonasal carcinomas.

6.
Diagnostics (Basel) ; 14(11)2024 May 27.
Article de Anglais | MEDLINE | ID: mdl-38893634

RÉSUMÉ

Augmented reality (AR) is a promising technology to enhance image guided surgery and represents the perfect bridge to combine precise virtual planning with computer-aided execution of surgical maneuvers in the operating room. In craniofacial surgical oncology, AR brings to the surgeon's sight a digital, three-dimensional representation of the anatomy and helps to identify tumor boundaries and optimal surgical paths. Intraoperatively, real-time AR guidance provides surgeons with accurate spatial information, ensuring accurate tumor resection and preservation of critical structures. In this paper, the authors review current evidence of AR applications in craniofacial surgery, focusing on real surgical applications, and compare existing literature with their experience during an AR and navigation guided craniofacial resection, to subsequently analyze which technological trajectories will represent the future of AR and define new perspectives of application for this revolutionizing technology.

7.
Biomedicines ; 12(5)2024 Apr 26.
Article de Anglais | MEDLINE | ID: mdl-38790924

RÉSUMÉ

Undifferentiated carcinoma with osteoclast-like giant cells (UCOGC) of the pancreas represents a rare subtype of pancreatic ductal adenocarcinoma (PDAC). Despite a distinct morphology and specific clinical behavior, UCOGCs exhibit unexpected similarities in regard to DNA mutational profiles with conventional PDAC. Treating pancreatic ductal adenocarcinoma is particularly challenging, with limited prospects for cure. As with many other malignant neoplasms, the exploration of microRNAs (miRNAs, miRs) in regulating the biological characteristics of pancreatic cancer is undergoing extensive investigation to enhance tumor diagnostics and unveil the therapeutic possibilities. Herein, we evaluated the expression of miR-21, -96, -148a, -155, -196a, -210, and -217 in UCOGCs and poorly differentiated (grade 3, G3) PDACs. The expression of miR-21, miR-155, and miR-210 in both UCOGCs and G3 PDACs was significantly upregulated compared to the levels in normal tissue, while the levels of miR-148a and miR-217 were downregulated. We did not find any significant differences between cancerous and normal tissues for the expression of miR-96 and miR-196a in G3 PDACs, whereas miR-196a was slightly, but significantly, downregulated in UCOGCs. On the other hand, we have not observed significant differences in the expression of the majority of miRNAs between UCOGC and G3 PDAC, with the exception of miR-155. UCOGC samples demonstrated lower mean levels of miR-155 in comparison with those in G3 PDACs.

8.
Cureus ; 16(2): e55175, 2024 Feb.
Article de Anglais | MEDLINE | ID: mdl-38558649

RÉSUMÉ

Pancreatic cancer is an intractable malignancy associated with a dismal prognosis. Undifferentiated carcinoma, a rare subtype, poses a clinical challenge owing to a limited understanding of its molecular characteristics. In this study, we conducted genomic analysis specifically on a case of undifferentiated carcinoma of the pancreas exhibiting squamous differentiation. An 80-year-old male, previously treated for colorectal cancer, presented with a mass with central cystic degeneration in the pancreatic tail. The mass was diagnosed pathologically as undifferentiated carcinoma of the pancreas with squamous differentiation. Despite surgical resection and chemotherapy, the patient faced early postoperative recurrence, emphasizing the aggressive nature of this malignancy. Genomic analysis of distinct histologic components revealed some common mutations between undifferentiated and squamous components, including Kirsten rat sarcoma virus (KRAS) and TP53. Notably, the squamous component harbored some specific mutations in SMARCA4 and SMARCB1 genes that code for members of the SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex. The common mutations in the undifferentiated and squamous cell carcinoma components from this analysis suggest that they originate from a common origin. The discussion also underscores the scarcity of genomic analyses on undifferentiated carcinoma of the pancreas, with existing literature pointing to SWI/SNF complex-related gene mutations. However, our case introduces chromatin remodeling factor mutations as relevant in squamous differentiation. In conclusion, this study provides valuable insights into the genomic landscape of undifferentiated pancreatic carcinoma with squamous differentiation. These findings suggest the importance of further research and targeted therapies to improve the management of undifferentiated carcinoma of the pancreas and enhance patient outcomes.

9.
Transl Oncol ; 44: 101943, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38593586

RÉSUMÉ

PURPOSE: Sinonasal undifferentiated carcinoma (SNUC) is a rare, aggressive malignancy of the sinonasal cavity with poor prognosis and limited treatment options. To investigate the potential for SNUC sensitivity to combinatory immunotherapy, we performed in vitro studies with SNUC cell lines and used multi-spectral immunofluorescence to characterize the in vivo patient SNUC tumor immune microenvironment (TIME). EXPERIMENTAL DESIGN: Human-derived SNUC cell lines were used for in vitro studies of tumor cell susceptibility to natural killer (NK) cell-based immunotherapeutic strategies. Tumor samples from 14 treatment naïve SNUC patients were examined via multi-spectral immunofluorescence and clinical correlations assessed. RESULTS: Anti-PD-L1 blockade enhanced NK cell lysis of SNUC cell lines ∼5.4 fold (P ≤ 0.0001). This effect was blocked by a CD16 neutralizing antibody demonstrating activity through an antibody-dependent cellular cytotoxicity (ADCC) mediated pathway. ADCC-dependent lysis of SNUC cells was further enhanced by upregulation of PD-L1 on tumor cells by exogenous interferon-gamma (IFN-γ) administration or interleukin-15 (IL-15) stimulated IFN-γ release from NK cells. Combination treatment with anti-PD-L1 blockade and IL-15 superagonism enhanced NK-cell killing of SNUC cells 9.6-fold (P ≤ 0.0001). Untreated SNUC patient tumor samples were found to have an NK cell infiltrate and PD-L1+ tumor cells at a median of 5.4 cells per mm2. A striking 55.7-fold increase in CKlow tumor cell/NK cell interactions was observed in patients without disease recurrence after treatment (P = 0.022). Patients with higher CD3+CD8+ in the stroma had a significantly improved 5-year overall survival (P = 0.0029) and a significant increase in CKlow tumor cell/CD8+ cytotoxic T cell interactions was noted in long-term survivors (P = 0.0225). CONCLUSION: These data provide the pre-clinical rationale for ongoing investigation into combinatory immunotherapy approaches for SNUC.

10.
Infect Agent Cancer ; 19(1): 14, 2024 Apr 20.
Article de Anglais | MEDLINE | ID: mdl-38643211

RÉSUMÉ

Hepatocellular carcinoma (HCC) is the most common primary malignant tumor of the liver. Osteoclast-like giant cells (OGCs) are relatively more common in pancreatic cancer, but extremely rare in HCC. Currently, there have been only a few reported cases of OGCs in HCC, and their presence indicates an aggressive clinical course. Here, we present a case of primary undifferentiated carcinoma of the liver with OGCs in a 49-year-old male patient, and through a literature review, we summarize 20 similar cases to further understand the diagnosis, treatment, and clinical course of this disease entity.

11.
Article de Anglais | MEDLINE | ID: mdl-38656564

RÉSUMÉ

PURPOSE: Undifferentiated carcinoma of the esophagus (UEC) is a rare malignancy. Deficiency in SMARCA genes, critical for chromatin regulation, has been observed in cases of UEC. Research in UEC is sparse, however, and we present a case series along with a comprehensive review of the literature. CASE SERIES: Case 1 is a 49-year-old female with abdominal pain and dysphagia and esophagogastroduodenoscopy (EGD) showing a friable mass at the gastroesophageal (GE) junction. Biopsies showed a poorly differentiated neoplasm and immunohistochemistry showed loss for SMARCA4. With metastatic disease, she agreed to undergo palliative chemotherapy and radiation, passing away at 4 months. Case 2 is an 88-year-old male with dysphagia, nausea, vomiting, and distal esophageal mass with biopsy showing a malignancy with loss of SMARCA4 expression. Due to extensive metastases, he was counseled on hospice care. Case 3 is a 53-year-old male with extensive alcohol and smoking history presenting with hematemesis, passing away shortly. Posthumous histopathology consistent with undifferentiated SMARCA4-deficient carcinoma of the esophagus. Results of the literature review indicate a predilection towards males (75.0%) and a variable age range (39-88 years). Majority (76.2%) reported with a distal esophagus location. Metastatic disease was common at initial presentation. Median survival was 2.60 months. Some were managed with chemotherapy and radiation. CONCLUSIONS: Research in SMARCA-deficient UEC is very limited. It is more common in men, age is variable, and associated with Barret's esophagus. Further research is necessary to better understand it and to establish treatment guidelines; however, it is clear that SMARCA4-deficient UEC carries a significantly poor prognosis.

12.
Diagnostics (Basel) ; 14(7)2024 Mar 29.
Article de Anglais | MEDLINE | ID: mdl-38611634

RÉSUMÉ

Nasopharyngeal carcinoma is one of the most common malignant tumors in the head and neck region. The carcinogenesis is a complex process stimulated by many factors. Although the etiological factors and pathogenic mechanisms are not elucidated, the genetic susceptibility, environmental factors, and association with latent infection with Epstein-Barr Virus play an important role. The aim of this study was to present the main clinical and epidemiological data, as well as the morphological aspects and the immunohistochemical profile, of patients with nasopharyngeal carcinoma diagnosed in western Romania. The study was retrospective and included 36 nasopharyngeal carcinomas. The histopathological diagnosis was completed using immunohistochemical reactions for the following antibodies: p63, p53 and p16 protein, cytokeratins (CK) AE1/AE3, CK5, CK7, CK20 and 34ßE12, epithelial membrane antigen (EMA), Epstein-Barr virus (EBV), leukocyte common antigen (LCA), CD20, CD4, CD8, CD68, CD117, and CD1a. The squamous malignant component of nasopharyngeal carcinoma presented with positivity for cytokeratins AE1/AE3, CK5, 34ßE12, and p63. Undifferentiated nasopharyngeal carcinoma was positive for EMA in 67% of cases, and 28% of cases showed an immunoreaction for CD117 in the malignant epithelial component. Also, the p53 protein was positive in all the cases. One case of undifferentiated nasopharyngeal carcinoma was p16-positive, and two cases were positive for EBV. A peri- and intratumor cellular infiltrate rich in lymphocytes, with a predominance of CD20-positive B lymphocytes, interspersed with T lymphocytes, was observed. The T cells were CD4- and CD8-positive, predominantly intratumoral, and the CD4:CD8 ratio was 1:1 for 75% of the undifferentiated subtype and 89% for differentiated non-keratinized squamous cell carcinoma. All subtypes of nasopharyngeal carcinoma presented with an inflammatory infiltrate with numerous plasma cells, eosinophils, and dendritic cells, presenting as antigen CD1a- and CD68-positive, as well as in CD117-positive mast cells.

13.
J Microsc Ultrastruct ; 12(1): 21-26, 2024.
Article de Anglais | MEDLINE | ID: mdl-38633570

RÉSUMÉ

Background: One of the most challenging diagnostic categories in the sinonasal tract includes small-blue-round-cell tumors. These are malignant tumors which show many overlapping histomorphology and immunohistochemistry (IHC) findings. Limited, small biopsy of these not completely excisable tumors adds to the diagnostic confusion. Materials and Methods: A cross-sectional study was done for 2 years (January 2018-December 2020) in a tertiary care institute, which included 70 cases of tumors of which 49 cases were malignant. All paraffin-embedded blocks were subjected to hematoxylin and eosin stain and IHC followed by molecular study wherever needed. Results: Of the total cases, small-blue-round-cell tumor constituted the major category comprising 20 rare and interesting cases which included sinonasal undifferentiated carcinoma (4 cases), malignant lymphoma (2 cases of diffuse large B-cell lymphoma and 2 cases of extranodal natural killer/T-cell lymphoma), rhabdomyosarcoma (2 cases), olfactory neuroblastoma (2 cases), malignant melanoma (2 cases), plasmacytoma (2 cases), atypical Ewing's sarcoma (EWS) (1 case), EWS (1 case), nuclear protein in testis (NUT) carcinoma (1 case), and small-cell neuroendocrine carcinoma (1 case). Conclusion: Tumors of the sinonasal tract are very diverse, more so in small-round-cell tumor which present with a undifferentiated morphology. Thus, accurate diagnosis needs clinicoradiological parameters and special ancillary techniques such as IHC and molecular study in addition to histopathology for early diagnosis and therapy to prevent significant morbidity and mortality caused in these tumors.

14.
Int J Mol Sci ; 25(6)2024 Mar 14.
Article de Anglais | MEDLINE | ID: mdl-38542259

RÉSUMÉ

Undifferentiated carcinoma with osteoclast-like giant cells (UCOGC) of the pancreas is a rare malignancy regarded as a subvariant of pancreatic ductal carcinoma (PDAC) characterized by variable prognosis. UCOGC shows a strikingly similar spectrum of oncogenic DNA mutations to PDAC. In the current work, we analyzed the landscape of somatic mutations in a set of 13 UCOGC cases via next-generation sequencing (NGS). We detected a spectrum of pathogenic or likely pathogenic mutations similar to those observed in PDAC following previously published results (10 KRAS, 9 TP53, 4 CDKN2A, and 1 SMAD4, CIC, GNAS, APC, ATM, NF1, FBXW7, ATR, and FGFR3). Our results support the theory that UCOGC is a variant of PDAC, despite its unique morphology; however, a UCOGC-specific genomic signature as well as predictive markers remain mainly unknown. Programmed death ligand 1 (PD-L1) status remains an important predictive marker based on previous studies.


Sujet(s)
Carcinome du canal pancréatique , Tumeurs du pancréas , Humains , Tumeurs du pancréas/génétique , Tumeurs du pancréas/anatomopathologie , Ostéoclastes/anatomopathologie , Pancréas/anatomopathologie , Carcinome du canal pancréatique/anatomopathologie , Cellules géantes/anatomopathologie , Mutation , Biologie moléculaire
15.
Indian J Otolaryngol Head Neck Surg ; 76(1): 1106-1109, 2024 Feb.
Article de Anglais | MEDLINE | ID: mdl-38440453

RÉSUMÉ

Sinonasal undifferentiated carcinoma (SNUC) is a rare tumor which is aggressive in nature, has a different clinical course in contrast to sinonasal carcinoma and poor prognosis. Here, we are reporting first case of isolated frontal SNUC which was managed by upfront surgery followed by adjuvant treatment. We want to emphasize the importance of early presentation and timely intervention in form of conservative surgery in this highly aggressive tumor.

16.
Cureus ; 16(1): e51996, 2024 Jan.
Article de Anglais | MEDLINE | ID: mdl-38344560

RÉSUMÉ

Undifferentiated carcinoma with osteoclast-like giant cells (UC-OGC) is a rare tumor type of pancreatic cancer. Paraneoplastic syndromes, an idiopathic inflammatory myositis characterized by various skin manifestations (such as dermatomyositis (DM)), cannot be attributed to the primary tumor itself. Here, we report an unusual case of UC-OGC presenting as a paraneoplastic syndrome, the first reported from Saudi Arabia and the Arabian Gulf states. A 49-year-old Eritrean woman with known DM was referred to our hospital with a left-sided pleural effusion. Computed tomography of the abdomen revealed a large necrotic splenic mass (~17 × 12.9 × 18.2 cm). The patient underwent exploratory laparotomy with en bloc resection of the mass (splenectomy, distal pancreatectomy, and partial excision of the left hemidiaphragm). Following a histopathological examination of the mass, UG-OGC of the pancreas, presenting as a paraneoplastic syndrome, was diagnosed. To our knowledge, this case is the first to present a paraneoplastic syndrome associated with UC-OGC. The identification of an exceedingly rare tumor presenting atypically as a paraneoplastic syndrome shows the importance of conducting comprehensive examinations of patients with malignancies, emphasizing the need for more reports of similar cases.

17.
Int J Surg Pathol ; : 10668969241232699, 2024 Feb 20.
Article de Anglais | MEDLINE | ID: mdl-38378024

RÉSUMÉ

Undifferentiated carcinomas are highly aggressive tumors with a dismal prognosis. A subset of these tumors has been associated with inactivation or mutations of the Switch/Sucrose Nonfermenting (SWI/SNF) remodeling complex. Our understanding of the relationship between the clinicopathological features and molecular profiling of SWI/SNF-deficient undifferentiated carcinoma is still evolving due to its rarity. We herein present a rare tumor of undifferentiated carcinoma with SMARCB1/INI1 deficiency arising from the colon. The histology revealed a tumor composed of sheets of discohesive, high-grade epithelioid cells with rhabdoid morphology along with anaplastic giant cells. Additionally, there was a significant infiltration of inflammatory cells in the background. Immunohistochemical (IHC) analysis supported the diagnosis of carcinoma with loss of INI1 expression, the tumor was mismatch repair protein proficient. Molecular analysis demonstrated an oncogenic KRAS mutation (p.G12D), whereas it was wild-type BRAF, and wild-type NRAS. The diagnosis of SWI/SNF-deficient undifferentiated carcinoma can be challenging. Correlation with clinical findings, in conjunction with IHC work-up and molecular analysis, is of utmost importance to arrive at the appropriate diagnosis and exclude potential mimics.

18.
Cureus ; 16(1): e53185, 2024 Jan.
Article de Anglais | MEDLINE | ID: mdl-38298304

RÉSUMÉ

Sinonasal undifferentiated carcinoma (SNUC) is an extremely rare and highly aggressive malignant neoplasm of the nasal cavity and/or paranasal sinuses. SNUC is clinicopathologically distinctive from other tumors but is difficult to study due to its low incidence. There is also very little consensus about the etiology of SNUC, including its association with Epstein-Barr virus (EBV). Treatment modalities include surgery, chemotherapy, and radiation depending on the stage and grading. Herein, we discuss a patient who presented to the emergency department with chronic rhinorrhea and various ophthalmologic symptoms such as flashes, floaters, and diplopia. The patient was later diagnosed with SNUC in the setting of negative serological testing for EBV in addition to his previously concomitant history of bladder cancer. The purpose of this case report is to contribute to the broader literature of SNUC and the specifics surrounding the diagnostic modalities utilized, management, and outcome of non-EBV sinonasal undifferentiated carcinoma in a patient with atypical symptomatology.

19.
Cureus ; 16(1): e52789, 2024 Jan.
Article de Anglais | MEDLINE | ID: mdl-38268992

RÉSUMÉ

Undifferentiated carcinoma (or poorly differentiated carcinoma) of the mediastinum is a relatively rare pathological variant of anterior mediastinal tumors. Pathologists usually use the term to describe an epithelial tumor with no histological features that enable the identification of its site of origin. Invasion of adjacent vital cardiopulmonary structures is among the most problematic complications of anterior mediastinal masses. We report a case of a 60-year-old male presenting with easy fatiguability, significant weight loss, and chest pain. A CT scan of the chest revealed a large anterior mediastinal mass, compression of the main pulmonary artery, and a large pericardial effusion. The patient underwent pericardiocentesis, emergent radiotherapy, and platinum-based chemotherapy. His condition dramatically improved, and he was subsequently discharged home for further follow-up.

20.
J Med Case Rep ; 18(1): 36, 2024 Jan 30.
Article de Anglais | MEDLINE | ID: mdl-38287377

RÉSUMÉ

BACKGROUND: Nasopharyngeal carcinoma is known for its high potential for regional and distant metastasis. However, breast metastasis is rarely reported. CASE PRESENTATION: A 39-year-old Caucasian male presented with bilateral neck lymph node enlargement. Radiological examination with contrast-enhanced computed tomography scan and breast imaging revealed an enhancing mass lesion in the right breast. Histopathology of the nasopharynx mass was suggestive of undifferentiated nasopharyngeal carcinoma. A breast biopsy confirmed the diagnosis of synchronous breast metastasis from the nasopharyngeal carcinoma. We present this study to illustrate that Nasopharyngeal carcinoma can metastasize to the male breast. Furthermore, the high incidence of nasopharyngeal carcinoma metastasis underscores the pressing need to identify effective and safe strategies, emphasizing the importance of utilizing computed tomography scans for metastasis detection. CONCLUSION: The present study illustrates the first case of synchronous male breast metastases from nasopharyngeal carcinoma. Thus, it is critical to distinguish between metastatic pathology and coexisting second malignancies to plan appropriate therapy.


Sujet(s)
Tumeur du sein de l'homme , Cancer du nasopharynx , Tumeurs du rhinopharynx , Seconde tumeur primitive , Adulte , Humains , Mâle , Cancer du nasopharynx/anatomopathologie , Tumeurs du rhinopharynx/anatomopathologie , Seconde tumeur primitive/anatomopathologie , Tumeur du sein de l'homme/anatomopathologie
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