Rare Tumor Research Articles

Incidence, survival, and prognostic nomogram of patients with small intestinal neuroendocrine tumors: A SEER population-based study.

Small intestinal neuroendocrine tumors (SI-NETs) are a group of rare and significantly heterogeneous tumors with limited research currently available. This study aimed to investigate the incidence, survival, and prognostic factors of SI-NETs. We selected data from the surveillance, epidemiology, and end results (SEER) database between 2000 and 2019 and evaluated the incidence trend of SI-NETs during this period. We utilized the Kaplan-Meier method to examine the association between clinical variables and survival rates. Based on the multivariable Cox regression analysis results, we developed a nomogram to predict the 1-, 2-, and 3-year cancer-specific survival (CSS) of SI-NETs patients. We evaluated the consistency, accuracy, and clinical utility of the nomogram by drawing calibration curves, receiver operating characteristic (ROC) curves, and decision curve analysis (DCA) curves. The incidence of SI-NETs showed an upward trend in recent years. Age, grade, T stage, M stage, and primary tumor surgery were independent risk factors for CSS in SI-NETs patients. The nomogram model based on these risk factors showed high accuracy and clinical benefit. SI-NETs are rare tumors with an increasing incidence rate. The nomogram model is expected to be an effective tool for personalized prognosis prediction in SI-NETs patients, which may benefit clinical decision-making.

A case report of retroperitoneal liposarcoma.

Retroperitoneal liposarcoma is a rare and complex tumor originating from the mesenchymal tissues, with no specific manifestations in the early stage, and a large tumor size in the late stage. Patients often consult a physician because of large abdominal mass, increased abdominal circumference, and abdominal pain, and rarely because of leukocytosis. A 54-year-old female presented to our hospital with complaints of "abdominal distension for over 3 months, left lumbar pain for over 2 months." Considering the comprehensive symptoms, examinations, computed tomography scans, and pathological results, the possibility of retroperitoneal liposarcoma is high. Retroperitoneal liposarcoma with leukocytosis. Open retroperitoneal mass excision along with transcystoscopic left ureteral Double-J Ureterl Stent Insertion tube placement and left nephrectomy. The postoperative pathological findings of the abdominal mass, combined with morphological and immunohistochemical results, are consistent with retroperitoneal liposarcoma. The patient had no recurrence in 7 months of postoperative follow-up conducted on the telephone and is now in continued follow-up. Retroperitoneal liposarcoma is highly malignant and prone to recurrence. Radical surgery is currently the primary treatment modality for patients with this condition. Analogous to cancer patients, those with elevated white blood cell counts and retroperitoneal liposarcoma may have poor prognoses, with a high likelihood of local recurrence and distant metastasis. Close postoperative follow-up is necessary. Therefore, regular postoperative review of blood routine may be a relatively economical and convenient method for the early detection of recurrence and metastasis of retroperitoneal liposarcoma.

CNS Embryonal Tumor with PLAGL Amplification, a New Tumor Type in Children and Adolescents: Insights from a Comprehensive MRI Analysis.

CNS embryonal tumor with PLAGL1/PLAGL2 amplification (ET, PLAGL) is a newly identified, highly malignant pediatric tumor. Systematic MRI descriptions of ET, PLAGL are currently lacking. MRI data from 19 treatment-naïve patients with confirmed ET, PLAGL were analyzed. Evaluation focused on anatomical involvement, tumor localization, MRI signal characteristics, DWI behavior, and the presence of necrosis and hemorrhage. Descriptive statistics (median, interquartile range, percentage) were assessed. Ten patients had PLAGL1 and nine PLAGL2 amplifications. The solid components of the tumors were often multinodular with heterogeneous enhancement (mild to intermediate in 47% and intermediate to strong in 47% of cases). Non-solid components included cysts in 47% and necrosis in 84% of the cases. The tumors showed heterogeneous T2WI hyper-and isointensity (74%), relatively little diffusion restriction (ADC values < contralateral normal-appearing WM in 36% of cases with available DWI), and tendencies towards hemorrhage/calcification (42%). No reliable distinction was found between PLAGL1-and PLAGL2-amplified tumors or compared to other embryonal CNS tumors. The study contributes to understanding the imaging characteristics of ET, PLAGL. It underscores the need for collaboration in studying rare pediatric tumors and advocates for the use of harmonized imaging protocols for better characterization. ATRT= atypical teratoid/rhabdoid tumor; ETMR= embryonal tumor with multilayered rosettes; ET, PLAGL= CNS embryonal tumor with PLAGL amplification; EVD= external ventricular drain; IQR: interquartile range; PLAGL1= pleomorphic adenoma gene-like 1; PLAGL2= pleomorphic adenoma gene-like 2; WHO= World Health Organization.

BRCA1-associated-protein-1 inactivated melanocytic tumours: characterisation of the clinicopathological spectrum and immunohistochemical expression pattern of preferentially expressed antigen in melanoma.

BRCA1-associaed protein-1 (BAP1) inactivated tumours (BIMT) are rare melanocytic tumours that may be mistaken for Spitz tumours or melanoma. They occur sporadically or in association with the BAP1 tumour predisposition syndrome (BAP1-TPDS), which may be complicated by uveal or cutaneous melanoma, mesothelioma, basal cell carcinoma and renal cell carcinoma. The aim of this study was to characterise the clinicopathological features and the immunohistochemical expression pattern of preferentially expressed antigen in melanoma (PRAME) of BIMT in a large patient cohort. Ethical approval was obtained, haematoxylin and eosin-stained slides were reviewed, PRAME immunohistochemistry was performed and clinical follow-up was obtained from patient records. Sixty-five BIMT from 38 patients (F:M = 4.4:1) were identified. BIMT were typically located on the trunk and head and neck (median size = 0.5 cm). Seven patients with BAP1-TPDS (range = 16-66 years, median = 25) had multiple BIMT (median = 5), while sporadic BIMT were solitary (median patient age = 39 years). One of seven patients with BAP1-TPDS developed additional malignancies (mesothelioma and cutaneous spindle cell melanoma) and died of complications of mesothelioma. All other patients are alive without recurrence of BIMT (median follow-up = 42 months). BIMT presented as intradermal, nodular aggregates of epithelioid melanocytes with low mitotic activity and moderate to severe cytological atypia in 63% of cases. A background conventional naevus was present in 64%. PRAME immunohistochemistry showed negative or weakly patchy positive staining in all BIMT. BIMT are more common in a sporadic setting and behave indolently, despite worrying cytological atypia. PRAME immunohistochemistry is a reassuring tool in distinguishing BIMT from melanoma.

Retroperitoneal Functional Paraganglioma: A Case Report and Review of the Literature

Retroperitoneal paragangliomas are rare neuroendocrine tumors. They are defined as extra-adrenal chromaffin tumors and account for around 1/5th of all chromaffin tumors. They are often asymptomatic and can reach significant dimensions. We report the case of a 52-year-old female patient who presented with abdominal pain. Thoraco-abdomino-pelvic computed tomography (TAP CT) showed a right retroperitoneal tumor, urinary methoxylates were elevated. After adequate pharmacological preparation, the patient underwent surgery without complications. Blood pressure and urinary catecholamines were normal after surgery.

Insulin-like growth factor-1 deficiency caused by hepatocellular adenoma leads to growth arrest, primary amenorrhea and metabolic syndrome: a case report and 4 years follow up

BackgroundHepatocellular adenoma (HCA) is a rare benign neoplasm, seldom ascribed as the cause of endocrine and metabolic derangement. We herein report a case of primary amenorrhea, growth arrest and metabolic syndrome. En bloc resection of the tumor normalized all the disturbances.Case presentationA 16-year-old girl complained of primary amenorrhea and growth arrest for the past 2 years. Her height and weight were at the 3rd percentile, whereas waist circumference was at the 90th percentile for chronological age. She was hypertensive on admission. Plasma cholesterol, triglyceride and uric acid were elevated. Evaluation of GH/IGF-1 axis showed extremely low IGF-1 concentration, which was unresponsive to hGH stimulation. Computer tomography identified a huge liver mass (18.2 cm×13.7 cm×21 cm). The patient underwent an uneventful open right hepatic lobectomy. The tumor was en bloc resected. Immunohistochemistry indicated an unclassified HCA, which was confirmed by genetic screening. IGF-1 concentration, blood pressure, lipid profile and ovarian function were all normalized after surgery, and the girl had reduction in waist circumference and gain in height during the follow up.ConclusionWe provide evidence that liver-derived IGF-1 has a direct effect on skeletal and pubertal development, blood pressure, visceral adiposity and dyslipidemia independent of insulin resistance and obesity in the circumstance of undernutrition. Though rare, we propose the need to look into HCA cases for the existence of IGF-1 deficiency and its impact on metabolic derangement.

A case of bronchoscopic treatment for endobronchial chondroma

Endobronchial chondroma is a rare benign bronchial tumor that originates from bronchial cartilage. As the disease progresses, it can obstruct the airway and cause clinical symptoms such as fever and cough. It is difficult to detect Endobronchial chondroma on a Chest X-ray, but chest CT can provide a more accurate diagnosis. Bronchoscopy is an effective means of diagnosing and treating this disease, and the diagnosis of the disease still depends on the pathological results of the biopsy. Currently, most cases of Endobronchial chondroma are treated by bronchoscopic resection or by surgery. Treatment should be based on the size, type and location of the tumor. As long as the diagnosis of Endobronchial chondroma is confirmed, it should be removed as soon as possible to avoid obstructive pneumonia, atelectasis or irreversible damage to lung tissue caused by tumor compression of the bronchi. This article reported a case of Endobronchial chondroma in a 19-year-old man whose main clinical manifestations were fever, cough and chest pain, with no apparent improvement after antibiotic treatment. Chest CT showed consolidation and atelectasis of the left upper lobe, and bronchial foreign body was considered by bronchoscopy in another hospital. However, the patient did not improve significantly after the foreign body was removed. After admission, the patient was considered to have left pulmonary obstructive pneumonia due to bronchial foreign body. A white tough foreign body was seen under bronchoscopy, which was too seriously adhered with the bronchus to be removed as a whole. After two bronchoscopic interventional treatments, the foreign body was successfully removed, and the bronchial lumen blocked by the foreign body was restored to patency. Pathology confirmed the diagnosis of endobronchial chondroma. The patient's symptoms improved and he was subsequently discharged. To date, the patient's symptoms of fever, cough, or chest pain have never recurred, and there is no obvious abnormality on repeat chest CT. This case provides an empirical reference for the diagnosis and treatment of endobronchial chondroma.

Rare Intravascular Involvement of Pleomorphic Dermal Sarcoma Seen During Mohs Micrographic Surgery.

Pleomorphic dermal sarcoma (PDS) and atypical fibroxanthoma (AFX) are rare mesenchymal tumors that share similar clinical, histological, and immunohistochemical characteristics. Careful histopathological examination of a biopsy specimen that includes subcutaneous fat remains the preferred way to differentiate between these tumors. AFX is limited to dermal invasion, whereas PDS demonstrates deeper invasion. Moreover, PDS may present with tumor necrosis and high-grade histological findings, such as lymphovascular and perineural invasion, features absent in AFX. However, like PDS, AFX is a diagnosis of exclusion, and an exhaustive immunohistochemistry panel is recommended to distinguish these tumors from other spindled cell tumors in the differential diagnosis. The authors present the case of an 86-year-old man with biopsy-suspected AFX who was referred for Mohs micrographic surgery for tumor excision. During Mohs, the tumor was observed to have invaded deeply into the subcutaneous tissue and galeal aponeurosis, aligning more closely with a PDS. The diagnosis of PDS was confirmed using en face processing during Mohs surgery, which captured the intravascular involvement of a solitary vessel. Differentiating between PDS and AFX is important because PDS is a more aggressive tumor, with a higher rate of local recurrence and metastasis, and requires closer monitoring.

Clinicopathologic Analysis of HPV-Related Primary Squamous Cell Carcinoma of the Thyroid.

This study aims to explore the clinical and pathologic characteristics of HPV-related primary thyroid squamous cell carcinoma (PSCCT), a rare tumor classified by WHO-5 as a subtype of anaplastic thyroid carcinoma (ATC). Clinical data, histomorphology, immunohistochemistry, HPV detection, and B-raf gene point mutations of 3 PSCCT cases were analyzed. Subsequent follow-up was conducted post-treatment. All 3 cases involved female patients aged between 60 and 76. Microscopic examination revealed squamous cell carcinoma in cases 1 and 3, whereas case 2 exhibited both squamous cell carcinoma and papillary thyroid carcinoma components. Immunohistochemistry demonstrated CK19, PAX8, and TTF1 expression in the papillary thyroid carcinoma component, and CK5/6, p63, p40, and PAX8 expression in the squamous cell carcinoma component. P16 exhibited diffuse positivity in both squamous cell carcinoma and classic papillary carcinoma. HPV analysis identified low-risk type 6 positivity in cases 1 and 3, while both squamous cell carcinoma and papillary carcinoma areas in case 2 were positive for HPV-33. B-raf gene mutation was exclusive to case 2. Diagnosis of PSCCT necessitates multidisciplinary assessment, incorporating clinical symptoms, imaging, histomorphology, and immunohistochemistry. This study, for the first time, reveals the presence of HPV DNA in both PTC and PSCCT, occurring concurrently but separately. Given the limited scope of 3 case reports, definitive conclusions cannot be drawn, warranting further investigation.

Infantile Cardiac Hemangioma: A Rare Case Presentation.

Cardiac hemangiomas are rare tumors of the heart which account for less than one-twentieth of all primary cardiac tumors. They can be seen in all age groups but are mostly diagnosed in neonates and children. Although cardiac hemangiomas are benign in nature they can present with features of congestive heart failure and occasionally be life-threatening. We present such a case in a two-month-old child who underwent successful surgical excision of the mass.

Inflammatory fibroid polyp of the esophagus: a systematic review.

Esophageal inflammatory fibroid polyp (IFP) is a rare benign tumor of the gastrointestinal tract with limited available data on clinicopathologic features and treatment strategies. A systematic review of the literature in PubMed/Medline and Scopus databases was performed for articles concerning esophageal IFP in adult population. A total of 16 studies were identified, involving 16 patients with a Male-Female Ratio of 3:1 and mean age of 50.38 years. Clinical presentation of esophageal IFP included progressive dysphagia in 56.3% of cases, with additional symptoms such as epigastric and retrosternal pain, weight loss, vomiting, and melena. Diagnostic modalities involved endoscopy in all cases, with endoscopic ultrasound (EUS) employed in 50% of cases and tissue biopsy performed during endoscopy in 87.5% of the patients. Therapeutic approach of esophageal IFP consisted of surgical resection in 75% of the patients and endoscopic resection in the remaining 25%, with various surgical procedures employed based on tumor location. Follow-up data, available for 11 patients over a median duration of 15.5 months, indicated two instances of recurrence following endoscopic resection, while the other nine patients remained asymptomatic with no evidence of recurrence. Esophageal IFP is a rare benign tumor of the gastrointestinal tract presenting with dysphagia, regurgitation, and heartburn. Resection, either endoscopic or surgical, is the primary treatment approach. Prognosis for esophageal IFP is favorable, with low recurrence rates. Further research is required to investigate potential risk factors and etiology for this lesion, and to explore novel therapeutic approaches that may improve patient outcomes.

CT and MR imaging characteristics of primary hepatic lymphoma

BackgroundPrimary hepatic lymphoma (PHL) is a rare primary liver tumor. The purpose of this study was to investigate the crucial imaging characteristics of PHL.MethodsCT/MR data and clinical features of 16 patients with pathologically proven PHL were retrospectively reviewed. The assessed imaging characteristics included lesion distribution, growth appearance, density or signal characteristics, and typical signs during the dynamic enhancement.ResultsA total of sixteen patients were included in this study, ranging in age from 27 to 86 years (nine men and seven women; mean age, 62 years). Right upper abdominal pain, malaise, or first detection during physical examination were the chief complaint. Dynamic contrast-enhanced CT and MRI demonstrated focal masses in thirteen patients (13/16, 81%), and multiple nodules in three patients (3/16, 19%). The lesions showed vascular floating sign in 10 patients (10/16, 63%) and biliary pass-through sign in 6 patients (6/16, 37%). Necrosis in PHLs were observed in 10 patients (10/16, 63%) and presented target sign on T2WI in 5 out of 11 patients (5/11, 45%) undergoing MRI. After enhancement, PHLs had multinodular sign in the arterial phase in 10 patients (10/16, 63%), and presented washout of contrast medium in the portal-venous or delayed phase in 12 patients (12/16, 75%), pseudocapsule in the delayed phase in 15 patients (15/16, 94%), and double-ring sign in the delayed phase in 8 patients (8/16, 50%).ConclusionPHL is generally seen in elderly patients with elevated beta-2-microglobulin levels. Its distinctive imaging features including obviously low ADC value, biliary/vascular floating sign, multinodular sign and double-ring sign in the delayed phase, may help to diagnose and differentiate PHL.

Muscle metastasis from cervical chordoma: a case report.

Chordomas are rare primary bone tumours that commonly occur in the sacrococcygeal and skull base region and have high rates of local recurrence. They have a locally aggressive course and the most common site of distant metastasis is the lung. The aim of this case report is to present the imaging findings of instance of muscle metastasis, a rare occurrence in cervical chordoma.

Advanced esophagogastric junction mixed neuroendocrine–non-neuroendocrine neoplasm with long-term recurrence-free survival

BackgroundMixed neuroendocrine–non-neuroendocrine neoplasm (MiNEN) is a rare malignant gastrointestinal tumor. The prognosis of patients with MiNEN is poor because of the high frequency of recurrence and metastases. We report a case of esophagogastric junction MiNEN (EGJ-MiNEN) with a long-term recurrence-free survival of 5.5 years.Case presentationA 58-year-old male patient underwent thoracoscopic esophagectomy for esophagogastric junction adenocarcinoma. The patient’s postoperative course was uneventful. R0 resection was achieved, and the pathological diagnosis of the surgical specimen was pT3N2M0 Stage IIIA (according to the Japanese Classification of Gastric Cancer, 4th edition). Based on the pathology results, the patient was treated with postoperative adjuvant therapy with oral S-1. The patient maintained recurrence-free survival for 5.5 years postoperatively. However, 6 years postoperatively, the patient visited our department with cachexia. Computed tomography (CT) revealed a large amount of ascites and pleural effusion. He rapidly developed a poor circulatory and respiratory status and died 16 days after admission. An autopsy revealed severe bloody ascites and pleural effusion, as well as numerous nodules on the pleura and mesentery. Immunohistochemistry of the nodules revealed positivity for chromogranin A, Synaptophysin A, neural cell adhesion molecule (NCAM or CD56), and insulinoma-associated protein 1 (INSM1). The specimen showed a mixture of adenocarcinoma and neuroendocrine cell carcinoma and was diagnosed as MiNEN. Retrospective immunostaining of the surgical specimen showed similar results, and we diagnosed the patient with recurrence of EGJ-MiNEN.ConclusionMiNEN has a poor prognosis; however, in some cases, long-term recurrence-free survival is achieved with radical resection and adjuvant chemotherapy.

Experiences and Fundamental Care Needs in Patients With Small Intestinal Neuroendocrine Tumours-An Interview Study in a Surgical Context.

The study aimed to describe patients' fundamental care needs and their experiences of nursing care, throughout surgical treatment of small intestinal neuroendocrine tumours. A qualitative descriptive study was performed. Patients' interviews (n = 19) were conducted in Sweden from May 2021 to January 2022 and analysed using directed qualitative content analysis guided by the Fundamentals of Care framework. The results are presented in three descriptive categories chronologically throughout the care chain. In the preoperative phase of care, the category was 'Feeling safe but lonely and frightened, and struggling with existential thoughts'; experiences in the postoperative phase of care resulted in the category 'Feeling cared for but suffering from physical symptoms and feelings of loneliness'; and the category in the discharge phase was 'Lacking self-care information and feeling worried about the future'. There were deficiencies in the delivery of fundamental care for patients with a rare tumour diagnosis throughout surgical treatment. Nursing care is mostly task focused and fragmented, and there is a lack of psychosocial and relational care across the care chain. Registered nurses and nursing managers need to take responsibility for their leadership in nursing care to fulfil patients' fundamental care needs. The Fundamentals of Care framework could be used for work improvements to include all aspects of nursing care. High-quality nursing care is needed throughout the care chain, including self-care after discharge, for patients with this rare tumour diagnosis. A higher awareness of patients' experiences and the importance of psychosocial support is warranted. Registered nurses and nursing managers must revise and improve routines to support patients' psychosocial needs. Registered nurses need to take responsibility for their leadership in nursing care to fulfil patients' fundamental care needs. What problem did the study address? This study highlights patients' fundamental care needs and experiences of nursing care throughout surgical treatment of small intestinal neuroendocrine tumours. What were the main findings? There are deficiencies in fulfilling patients' fundamental care needs across the care chain and in all dimensions of the Fundamental of Care framework throughout surgical treatment of small intestinal neuroendocrine tumours. Patients struggled with loneliness and existential thoughts, as well as worries about the future. Patients experienced a lack of information about plans for the day, self-care, and follow-ups. Where and on whom will the research have an impact? For clinicians to develop an understanding of, and improve, fundamental care needs for patients with small intestinal neuroendocrine tumours in a surgical context. For registered nurses to understand the importance of their leadership and nursing responsibility to fulfil fundamental care needs. The consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groups. The patients shared their experiences during the interviews, which has contributed to a deeper knowledge and understanding of the phenomena under study.

A rare well-differentiated renal retroperitoneal liposarcoma: a case report

Introduction and importance: Retroperitoneal liposarcomas (RPLPSs) are rare tumors that arise from mesenchymal cells in the peritoneum cavity. The sites of PRLPSs vary a lot, but renal PRLPSs are extremely rare (there are only 45 cases of Renal retroperitoneal liposarcomas on PubMed). In this case, we present a rare renal retroperitoneal liposarcoma case, describe the major concepts, and raise awareness about this rare tumor. Case presentation: a 44-year-old woman presented to the clinic with hirsutism and irregular menstruation; upon physical examination, a large abdominal mass was accidentally identified; the patient had Doppler ultrasound (Doppler US) and Magnetic resonance imaging (MRI), which both showed a mass arising from the right upper pole of the kidney, fine needle aspiration (FNA) confirmed the diagnosis of Retroperitoneal liposarcoma, patient underwent surgical removal and her symptoms disappeared. Clinical Discussion: The retroperitoneum is a cavity behind the abdominal wall containing organs like the pancreas and kidneys. Retroperitoneal tumors (RPTs) are rare neoplasms, primarily of mesenchymal origin. Retroperitoneal liposarcomas (RPLPS) are the most common RPT, often asymptomatic until large, and rarely metastasize but frequently recur. Liposarcomas are classified into five subtypes, with well-differentiated liposarcoma being the most common and characterized by high local recurrence. The presence of specific oncologic mutations affects the prognosis and the response to treatment. Conclusion: In rare cases, retroperitoneal liposarcomas can arise from sites near the kidney and compress the adjoining adrenal gland.

Whole exome sequencing of human papillomavirus-related multiphenotypic sinonasal carcinoma: a case report

Human Papillomavirus (HPV) related Multiphenotypic Sinonasal Carcinoma (HMSC) is a rare tumor with features of both atypical squamous cell and adenoid cystic carcinoma, making diagnosis challenging. Approximately 80% of HMSC cases carries HPV type 33 followed by type 35. We present a patient with HMSC. Pathological classification was aided by immunohistochemistry (IHC). The presence of HPV-DNA was tested using PCR and HPV E6/E7 expression by RNA in situ hybridization (RNA ISH). Whole exome sequencing (WES) was used to identify somatic gene mutations and copy number alterations. A 55-year-old male presented with an HMSC in the right nostril. Histological examination showed a solid basaloid subtype with mucinous spaces and ductal structures. IHC showed positive staining for SOX-10, SMA, p40, p63, PanCK, CK8 and MYB. Diffuse positive staining for p16 was observed and PCR and RNA ISH indicated the presence of HPV type 35. The patient was treated with endoscopic surgery and radiotherapy and is currently alive and recurrence-free after 16 months of follow-up. WES revealed 38 somatic sequence variants and several chromosomal regions with copy number alterations, including a copy number gain at 6q23 where MYB is located. EP300, ZNF22, ZNF609 and LRIG3 are some of the genes whose mutations were indicated as probably pathogenic. We did not find mutations predictive for drug response according to the ESMO Scale for Clinical Actionability of Molecular Targets database. This is the first report of WES analysis of an HMSC, in this case associated with HPV type 35. The detected mutation in EP300 and the overexpression of MYB may serve as molecular targets for personalized therapy.

Outcomes following extended resection of radiation-induced angiosarcoma of the breast: a sarcoma unit experience and systematic review.

Radiation-induced angiosarcoma (RIAS) of the breast is a rare tumour with high rate of local recurrence. The aim of this study is to evaluate the outcome of radical resections. A retrospective analysis of all patients who underwent extended surgical resection for RIAS of the breast between 2013 and 2022. Included were patients who underwent radical resection, including complete resection of previously irradiated skin and underlying fascia of pectoralis major. Post-operative and long-term oncological outcomes were than analysed. A systematic review was performed using the MEDLINE database in the last 20 years. Twenty-two (n = 22) patients met the inclusion criteria. The median length of the specimen was 220 mm (range, 120-377 mm). At a median follow-up of 33.5 months (range, 7.9-102.4), 3 (13.6%) patients had both local and metastatic lung disease and 1 (4%) patient with only lung metastasis. The estimated 3- and 5-year OS was 81.1% and 57.9%, respectively. The estimated 3- and 5-year DSS was 91.7% and 65.5%, respectively. The estimated 3- and 5-year DFS rate were both 75.2%. The systematic review identified 17 studies with a recurrence rate ranging from 33% to 100%. Treatment of RIAS of the breast with an up-front locally extended approach is associated with a low rate of local recurrence compared with the reported literature.

Synchronous Bilateral Ovarian Carcinomas With Right Mesonephric-like Adenocarcinoma and Left High-grade Serous Carcinoma: A Case Report and Review of the Literature.

Mesonephric-like adenocarcinomas (MLAs) are rare neoplasms of the uterus corpus and ovary, while high-grade serous carcinoma (HGSC) is the most common and lethal epithelial ovarian malignancy. We report a case of a 56-yr-old woman who presented with bilateral solid and cystic ovarian masses. She underwent a total abdominal hysterectomy with bilateral salpingo-oophorectomy, lymphadenectomy, omentectomy, and peritoneal biopsies. Histopathologic examination of the bilateral ovarian masses revealed 1 ovary with MLA, and the other ovary showed HGSC in association with serous tubal intraepithelial carcinoma. The morphology, immunophenotypes, and molecular profiling of the HGSC and the MLA were distinct and as expected for the different tumor types: HGSC was diffusely positive for WT-1, estrogen receptor, and p53 (mutant pattern), while negative for GATA-3 and TTF-1; MLA was positive for GATA-3 and TTF-1, while negative for WT1, estrogen receptor, and p53 (wild-type pattern); both tumors were diffusely positive for PAX-8. The HGSC revealed a TP53 c.659A>G (p.Y220C) mutation, and the MLA revealed a KRAS c. 34G>T (p. G12C) mutation and a PIK3CA c. 1034A>T (p. N345I) mutation. To the best of our knowledge, this is the first reported case of synchronous bilateral ovarian carcinomas with MLA and contralateral ovarian HGSC.

Endoscopic endonasal approach for resection of sellar leiomyosarcoma metastasis: illustrative case.

Leiomyosarcoma (LMS) is a rare neoplasm that arises from tissues of embryonic mesodermal origin. Primary tissues of origin can include smooth muscle cells of the abdominopelvic viscera, blood vessels, or arrector pili muscles. LMS is known to metastasize to the lungs, with few reported cases of spread to the central nervous system. A 66-year-old male with cutaneous LMS of the left forearm with metastases to the lungs and kidney that had been treated with chemoradiation presented with worsening headaches. Magnetic resonance imaging revealed a sellar lesion. An endocrine workup was unremarkable. Imaging over 6 months revealed rapid interval growth. Positron emission tomography demonstrated moderate uptake. Given the rapid growth, the patient was offered an endoscopic endonasal approach for resection. Pathology confirmed LMS. To the authors' knowledge, this is the first documented case of LMS metastasis to the sella. Pituitary carcinoma or metastases to the sellar region should be in the differential among patients with sellar region tumors with a rapid growth rate, bony erosion, or findings of lesions in the upper cervical lymph nodes or soft tissue. Tumors that show significant interval growth should raise suspicion for nonadenomatous lesions, and surgical intervention should be considered even in the absence of endocrinological dysfunction or cranial neuropathies. https://thejns.org/doi/10.3171/CASE2435.