Rare Tumors最新文献

Papillary breast carcinomas comprise <1% of all breast cancers. They are notorious among surgical pathologists for posing diagnostic difficulty, especially with small sample sizes, such as a core-needle biopsy and carry potential for overtreatment. Solid-papillary carcinoma is a subtype of papillary breast carcinomas that affects elderly females and generally has a favorable diagnosis in its in-situ form. This report focuses on the unique and clinically aggressive presentation and treatment of invasive solid-papillary carcinoma that was discovered along the axillary chest wall after an ipsilateral mastectomy for multifocal ductal carcinoma in situ.

We report two cases of epithelioid hemangioendothelioma (EHE) in the distal lower extremity. Our first patient had unicentric EHE of the left os calcis initially treated with an intralesional procedure; however, later developed two recurrences which were managed with radiation therapy. Our second patient had multicentric EHE of the distal tibia and fibula managed with primary radiation therapy. Although EHE is typically treated with wide resection or an intralesional procedure, we present two cases of EHE in the distal lower extremity to discuss the therapeutic role of radiation therapy in the management of distal EHE.

Pericardial cysts are rare benign intrathoracic lesions, and calcified pericardial cysts are even more uncommon. Most pericardial cysts are asymptomatic, but patients may present with chest pain, dyspnea and any complications of pericardial effusion. We present a case of a left-sided calcified pericardial cyst, highlighting its rarity and symptoms in relation to its location.

Background: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome. Due to the high risk of occurrence of multiple cancers, families with LFS may have an overwhelming psychosocial burden. Methods: This cross-sectional study was conducted at a tertiary care center using face-to-face interviews through a grounded theory approach. Statistical analysis was done using Smith's Interpretative Phenomenological Approach. Themes and sub-themes were extracted, and a thematic schema was developed. Results: A total of five themes were identified. The extracted themes were psychological experiences, behavioural responses, stressors, coping strategies and perceived needs. The interlay of the themes deepened the impact of LFS on the affected ones and brought into light the turmoil of emotions and difficulties that these individuals were going through in the face of the disease. Conclusions: LFS-affected individuals had a range of experiences with this rare and little-known disease. The lack of information seems to be a precursor to the denial of diagnosis. Their experience with the illness sheds light on the grey areas like guilt and helplessness that demand immediate attention. Future policies need to be developed in accordance with the identified perceived needs to potentially guide the treatment and rising needs of LFS-affected individuals.

The author describes a rare case of giant adenoid cystic carcinoma (ACC) mimicking large paraganglioma with lower cranial nerve palsy. A 60-year-old female presented with a progressive increase in postauricular swelling with unilateral hearing loss, facial deviation, difficulty in swallowing, and hoarseness of voice. MRI brain showed highly vascular infiltrating and osteolytic mass suggestive of large glomus jugulare versus sarcoma. It was completely engulfing the jugular foramen and lower cranial nerves with bony erosion of the jugular foramen and occipital condyle. The whole mastoid was filled with the tumor. On digital subtraction angiography the majority of blood supply was from the occipital branch of the external carotid artery and vertebral artery. The patient underwent percutaneous embolization followed by external carotid ligation and resection of the mass. The postoperative course was uneventful. Histopathology was suggestive of mixed ACCs. The patient received radiotherapy. After 1 year of follow up no recurrence or distant metastasis was noted.

Myxopapillary ependymoma (MPE) is a primary tumor of the central nervous system (CNS), characteristically an indolent malignancy involving the spinal conus medullaris, Filum terminale or cauda equina. We present a rare case of MPE, recurrent in the pelvic soft tissue with eventual pleural and intra-pulmonary metastasis. Refractory to repeated gross resection, adjuvant radiotherapy, platinum-based chemotherapy and temozolomide exploitation of mutant somatic BRCA1 status with the addition of a poly (ADP-ribose); polymerase inhibitor (PARPi) in a novel combination regimen with olaparib-temozolomide (OT) has achieved stable radiological disease after 10 cycles.

Extraskeletal osteosarcoma (ESOS) is a very rare entity among renal malignancies. There are few reports of renal ESOS in the database. Renal ESOS was found to have a high rate of local recurrence and distant metastasis. In most reports, the overall survival of patients was less than 1 year. We present a 51-year-old man who presented with gross hematuria and a clinical diagnosis of a staghorn stone in the left kidney. He underwent radical nephrectomy. The pathologic diagnosis of osteosarcoma was evident.