Rare Tumors最新文献

Objectives: The aim of this study was to construct a diagnostic model from MRI features to distinguish complex leiomyomas/degenerating fibroids (DF) from leiomyosarcoma (LMS). Methods: A retrospective case-controlled study was performed comparing MRI features of patients with pathologically proven DF or LMS. MRI in 42 patients with DF (control group) and 46 with LMS (study group) was used to generate a diagnostic model. Imaging features reported in the literature to distinguish these two entities were scored for each uterine mass by two radiologists unaware of the histological diagnosis. Inter observer variation and univariate analysis was undertaken. Imaging characteristics identified on univariate analysis were used to build a multi-variable diagnostic model and sensitivity and specificity of this model calculated. Results: Taking the features identified on the univariate analysis, the final diagnostic model was based on AP length (p = .053), intermediate T2 signal (IT2), volume (p = .002), and nodular border (p = .001). When the model was implemented back into the training dataset it demonstrated a sensitivity of 70.7%, and a specificity of 76.2%. The sensitivity and specificity of radiologist suspicion score was 74.7% and 70.4%. In addition, morphological features showed only poor or moderate inter observer agreement at best. Conclusions: Morphological MRI imaging features alone are not sufficient to obviate the need for pathological confirmation prior to non-surgical management of complex uterine mass lesions. Trial registration: IRAS project ID 251778 Protocol number: CCR 4992 REC reference 19/YH/0134 Date of HRA approval: 29.4.19.

Background: Immunohistochemistry (IHC) provides comprehensive information for morphology and pathologic characteristics and is a valuable tool for establishing the correct cancer diagnosis in clinical diagnostic pathology and determining prognosis. Objectives: The current study analyzes and compares the expression of Immunohistochemistry biomarkers on neuroendocrine and epithelial cell types of appendiceal neoplasms. Design: This systematic review adhered to the recommendations in the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement. We performed a meta-analysis employing a random effects model with proportions to gauge the proportion of positive cases. Method: A comprehensive systematic search in PubMed, Web of Science, and Scopus databases was conducted based on the PRISMA statement up to August 2023. Studies reporting the immunohistochemistry biomarkers expression performed in patients with primary appendiceal neuroendocrine and epithelial cell neoplasms according to the most recent World Health Organization classification of malignant tumors were included. Results: Our systematic search included 56 observational articles that meet the eligibility criteria. Meta-analysis revealed an expression rate of 93%, 91%, 87%, 71%, 94%, 99%, 32%, 76%, 25%, and 91% for non-specific enolase (NSE), chromaffin A, synaptophysin, Serotonin, SATB2, Caudal-type homeobox 2 (CDX2), β-catenin, Carcinoembryonic antigen (CEA), Cytokeratin 7, and Cytokeratin 20, respectively. CDX2 and SATB2 were the most expressed markers. The expression rate had a significant association with tumor type. NSE and synaptophysin were the highest in neuroendocrine tumors, whereas CEA was more elevated in gablet cell carcinoids. Cytokeratin 20 is suitable for identifying epithelial cell neoplasms. Conclusion: The study indicates the proportion of positive cases in patients with primary neuroendocrine and epithelial cell appendiceal neoplasms.

Angiosarcoma, an aggressive sarcoma subtype originating from lymphatic or vascular endothelial cells, is rare, constituting less than 2% of all soft tissue sarcomas. Predominantly affecting adult and elderly patients, it manifests diversely across various anatomical locations, with cutaneous lesions being the most common, particularly in the head and neck region. Noteworthy for its infiltrative nature, angiosarcoma demonstrates high rates of local recurrence and metastasis, leading to poor overall survival. The diagnosis may be difficult due to nonspecific clinical symptoms, and histological examination is essential in this disease. Treatment typically requires radical surgery, with addition of either chemo- or radiotherapy, or occasionally both, but there is a lack of formal evidence for the order of the modalities employed. Emerging therapies, such as targeted medicines and immunotherapy, show promising results in improving outcomes. This report presents a comprehensive analysis of a rare case of a young male with pelvic angiosarcoma. The patient underwent multiple operations, chemotherapy, and radiation, which highlights the complexities in management and the need for a multidisciplinary approach. Despite challenges, the patient achieved complete remission and is disease-free over 16 years after pelvic exenteration, demonstrating the potential for successful long-term outcomes. The case underscores the importance of personalized, multimodal treatment plans and close collaboration between surgeons and oncologists. Continued research into tailored therapies offers hope for improved prognosis and quality of life for individuals facing this uncommon sarcoma.

Neurofibromatosis 1 (NF1) represents a cluster of clinical features based on the National Institute of Health(NIH) diagnostic criteria. It is a multi-systemic disease with progressive features characterized by variable expression. NF1 is associated with an increased risk of malignancies including breast cancer. Presented was a 56 year old woman with a painless lump in the right breast in the past 15 months. Clinical evaluation revealed features of NF1 and an advanced right breast cancer. Histologic evaluation revealed an invasive ductal carcinoma and she was offered a right modified radical mastectomy. Due to clinical presentation with discrete lesions, NF1 may be diagnosed at presentation with malignancy. Clinicians are urged to be familiar with the subtle features of NF1 for early diagnosis that is largely clinical. Institution of early breast cancer surveillance in patients with NF1 is recommended for early diagnosis and improved outcomes.

Introduction and importance: Even though insulinoma is the most frequent neuroendocrine tumor, it represents only 2% of pancreatic 2% of all pancreatic neoplasms. Diagnosis is relatively simple, and surgery after accurate determination of the tumors location within the pancreas is the cornerstone of its treatment. Case presentation: We herein report 4 patients undergoing various surgeries for benign secreting insulinomas, after extensive radiological and endoscopic exploration. Clinical discussion: Diagnosis is relatively simple relying on clinical and biological criteria, it must be followed by an extensive and accurate preoperative determination of the tumors localization. The laparoscopic tumoral enucleation is the treatment of choice for small isolated tumors, but open surgery still has its indications. Conclusion: Pancreatic insulinoma is a rare neuroendocrine tumor that can be life-threatening due to hypoglycemic manifestations. The diagnosis is based on clinical and biological criteria. echo endoscopy and to a lesser extent radiological exploration can precisely determine the tumors location. Laparoscopic surgical enucleation of the tumor remains the preferred curative treatment.

Ewing sarcoma family tumors (ESFT) pose diagnostic challenges, which largely depend on the primary site of involvement and tumor stage. Despite advancements in treatment, metastatic ESFTs remain associated with poor outcomes. This case describes a 21-year-old woman who, in July 2022, presented with a left breast mass identified through ultrasound and CT scan, along with abdominal distention. A biopsy of the breast mass confirmed metastatic extraskeletal Ewing sarcoma. Further imaging revealed an ovarian mass, with subsequent biopsy confirming ovarian origin as extraskeletal Ewing sarcoma. The breast mass was identified as metastatic based on imaging features, including irregular margins and CT scan confirmation of widespread metastasis. Histopathology and immunohistochemistry confirmed Ewing sarcoma, consistent with the ovarian mass pathology that was the primary site. She underwent 15 cycles of VDC/IE chemotherapy ((vincristine, doxorubicin, and cyclophosphamide) for 2 days and 5 days IE (ifosfamide etoposide)), resulting in tumor cytoreduction. However, in less than 2 years, she developed metastases to the dura, spine, and bone, with optic nerve involvement. Despite treatment with radiotherapy and two cycles of high-dose Ifosfamide chemotherapy, her condition deteriorated, and she passed away in April 2024. This case underscores the complexity of managing metastatic ESFTs. Further research is needed to improve outcomes and establish treatment protocols for this malignancy.

Ameloblastoma is a rare tumor arising from odontogenic cells that is benign, yet locally aggressive. Metastasizing ameloblastoma (METAM) is an ultra-rare ameloblastoma variant in which both primary and secondary tumors have histological features of benign ameloblastoma. This is a case report of a patient who presented with a jaw mass and subsequent lung metastases, later diagnosed as METAM. Initial treatments, including carboplatin, etoposide, and taxane-based chemotherapy, were ineffective. Molecular profiling revealed mutations including PIK3CA H1047R and BRAF V600E. The patient was enrolled in a tumor-agnostic trial and began treatment with copanlisib, a PI3K inhibitor, which resulted in a partial response and durable disease regression. After 76 cycles, she continues to tolerate therapy well with minimal adverse events. This case highlights the potential of targeted therapies such as copanlisib for treating METAM, providing a promising therapeutic option for patients with PIK3CA mutations.

Pediatric retinoblastoma survivors exhibit visual deficits. How these visual deficits impact reading skills is unknown. The purpose of this study is to assess reading level, reading acuity, and reading speed among retinoblastoma survivors. Parents of English-speaking retinoblastoma survivors between ages of 8 and 17 consented/assented to participate. Children completed MNRead for reading speed and reading acuity. The Gray Oral Reading Test-Fifth Edition (GORT) was administered to assess reading rate, accuracy, fluency, and comprehension. Five children participated in the study. Two out of five participants fell within the "Below Average" range on the GORT while 3/5 were "Average". One participant with below average performance ranked below average in all four subtests, while the other participant was below average in accuracy and comprehension only. On the MNRead, all five participants had slower maximum reading speeds and worse reading acuity than the baseline measure for their age. Four out of five participants had a higher (i,e., worse) CPS than their expected baseline measure, suggesting that these individuals may require larger print or higher magnification than their peers to achieve effortless reading. These findings suggest that retinoblastoma survivors may experience reading difficulties. Characterizing the reading challenges in retinoblastoma survivors will be critical in advancing interventions to optimize educational attainment in this population.

Granular cell tumors (GCT) are rare mesenchymal tumors belonging to Schwann cell lineage constituting 0.5% of all soft tissue neoplasms. They occur in skin, subcutaneous tissues, mucosal surfaces including within the deeper organs. They are considered unusual and unique neoplasm due to their distinctive pathologic diagnosis. Such a rare case has been discussed here due to unusual age at presentation and in its location.

We present the case of a patient with Myxofibrosarcoma (MFS), a mesenchymal type of soft tissue sarcoma (STS) and the response to combination immunotherapy with anti PD-1 and anti-CTLA-4 therapy, following disease progression after Standard chemotherapy (SACT) and Radiotherapy (RT). We have shown a timeline of treatment and responses, as well as the overall safety profile and the management of immunotherapy related adverse events. This study demonstrates the potential of checkpoint inhibitors as therapeutic agents in the treatment of MFS.