Rare Tumors最新文献

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.

Osteosarcomas of the ribs are rarely reported but have a high potential for pulmonary metastases. The therapeutic strategies for this disease are not well defined. The primary treatment recommendations include wide resection with clear surgical margins and chest wall reconstruction if needed. We present a case of costal osteosarcoma with pleural and lung extension successfully treated by en-bloc thoracic resection with free surgical margins and chest wall reconstruction with rib titanium bars, polypropylene mesh and a rectus abdominis free flap with microvascular anastomoses. This case demonstrates the importance of this therapeutic strategy and highlights the need of early intervention in managing this disease.

Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by a diverse clinical presentation, which includes developmental abnormalities and tumorigenesis that can impact multiple organ systems. Basal cell carcinoma is the most common and characteristic clinical presentation in patients with NBCCS. There are three identified causative genes for this disease, the PTCH1 gene located at 9q22-31, the PTCH2 gene at 1p32-34, and the SUFU gene at 10q24.32. In this paper, we report a case of multiple nevoid basal cell carcinoma. The mutated gene in this patient was determined to be the ELP1 gene located on chromosome 9. This patient's ELP1 gene mutation may contribute to the development of multiple nevoid basal cell carcinomas on the face.

Soft tissue sarcomas are rarely associated with mutations of the MEN1 gene. We report a patient with a large retroperitoneal pleomorphic liposarcoma harboring a rare mutation of the MEN1 gene not previously reported to be associated with soft tissue sarcomas. This report expands the known spectrum of MEN1-associated cancers.