Dermatofibrosarcoma protuberans with fibrosarcomatous transformation: our experience, molecular evaluation of selected cases, and short literature review.

Dermatofibrosarcoma protuberans with fibrosarcomatous transformation (DFSP-FS) is a higher grade tumor arising from dermatofibrosarcoma protuberans (DFSP). Recent literature highlights its impact on recurrence rates, metastatic rates, and survival. In this article, we aim to describe our experience with 13 cases of DFSP-FS in terms of pathologic findings, molecular alterations, clinical outcomes, management, and also perform a short recent literature review.

Nicotinamide Phosphoribosyl Transferase Is Increased in Osteosarcomas and Chondrosarcomas Compared to Benign Bone and Cartilage.

BACKGROUND/AIM: Primary bone neoplasms include osteosarcomas (OS), chondrosarcomas (CS), and giant cell tumors (GCT). Nicotinamide phosphoribosyl transferase (NAMPT) catalyzes the rate-limiting step of nicotinamide adenine dinucleotide synthesis and is increased in multiple tumor types. In malignancies, NAMPT expression often correlates positively with tumor grade, chemotherapy resistance, and metastatic potential. MATERIALS AND METHODS: Tissue microarray was used to examine NAMPT expression in benign bone and cartilage, GCTs, OS, and different CS grades. RESULTS: For the first time, we showed that NAMPT expression was increased in GCTs and OS compared to benign bone, and in CS compared to benign cartilage. Its expression also increased with higher CS grade. CONCLUSION: Our data indicate that NAMPT plays a role in bone sarcomas and GCTs, and its higher expression may contribute to increased tumor aggressiveness.

Giant Cell Poor Extra-Articular Diffuse-Type Tenosynovial Giant Cell Tumor With Extensive Desmin Expression: A Potential Diagnostic Pitfall With Cytogenetic Confirmation.

Diffuse-type tenosynovial giant cell tumor can rarely present as an entirely extra-articular mass, which can be misdiagnosed as a sarcoma especially when giant cells are absent, dominated by large dendritic mononuclear cells, and desmin expression is extensive.

NF2 and ATRX gene copy number losses on a case of ovarian ependymoma.

Ovarian ependymomas are rare glial neoplasms that typically occur in women on their third to fourth decades of life. They are histologically similar to ependymomas of the central nervous system but may have a broader immunophenotype. We describe a 27-year-old woman who presented to the emergency department with a 3-week history of cough and shortness of breath. Further workup disclosed a left pelvic mass and extensive intra-abdominal metastases. Pathology revealed sheets of monomorphic cells within a fibrillary stroma, papillary projections, true ependymal rosettes, and pseudorosettes consistent with an ependymoma of ovarian origin. Next-generation sequencing showed ATRX and NF2 copy number losses. Fluorescence in situ hybridization for EWSR1 demonstrated monosomy of 22q in greater than 90% of cells. These molecular alterations have not been previously reported in ovarian or extra-central nervous system ependymomas.

Extraskeletal aneurysmal bone cyst: Report of a case and review of the literature.

Aneurysmal bone cyst (ABC) is an expansile cystic lesion that may affect any bone of the skeleton. Although exceedingly rare, lesions with histomorphologic characteristics of an ABC have reportedly originated within soft tissue. Extraskeletal ABC may mimic a variety of benign and malignant lesions and can be confused with other more common or rare giant cell-rich tumors of soft tissue, especially myositis ossificans. Clinical, radiological and histologic correlation is crucial in reaching the correct diagnosis. Cytogenetic and/or molecular genetic analysis is a useful adjunct in diagnosing these exquisitely rare lesions. Here we report a case of an ABC arising in an extraskeletal site and provide a comprehensive review of literature on this rare entity.

Atypical Fibroxanthoma.

Atypical fibroxanthoma is a malignant skin tumor with histologic features similar to those of undifferentiated pleomorphic sarcoma, but lacking its more aggressive behavior. The tumor is composed of pleomorphic cells with hyperchromatic nuclei and abundant cytoplasm, commonly arranged in a spindle cell pattern. Recent genetic studies have identified similarities between atypical fibroxanthoma and undifferentiated pleomorphic sarcoma, such as the presence of 9p and 13q deletions in both tumors, favoring a common histogenesis. However, the lack of K-ras and H-ras mutations in atypical fibroxanthoma compared with undifferentiated pleomorphic sarcoma could explain the difference in aggressiveness and continued separation of these entities. Exclusion of other neoplasms by histology and immunohistochemistry followed by complete surgical removal remains the standard of care.

An uncommon presentation of follicular thyroid carcinoma: when chronic back pain should raise a flag.

Follicular thyroid carcinoma is the second most common type of thyroid cancer, and its incidence has increased dramatically in recent years. Although it typically presents as a thyroid nodule, it can spread to distant sites via hematogenous dissemination. Bone metastasis is diagnosed clinically in 2%-13% of patients with differentiated thyroid cancer; nevertheless spinal cord compression complicating thyroid carcinoma is rare and only few cases has been reported in the literature. This case illustrates a strange case of a minimally invasive follicular carcinoma that showed an aggressive behavior, and thus the importance of considering metastatic thyroid carcinoma in the differential diagnosis of chronic back pain progressing to spinal cord compression carrying a severe morbidity.

UNCOMMON PRESENTATION OF FOLLICULAR THYROID CARCINOMA: WHEN CHRONIC BACK PAIN SHOULD RAISE A FLAG.

Follicular thyroid carcinoma is the second most common type of thyroid cancer, and its incidence has increased dramatically in recent years. Although it typically presents as a thyroid nodule, it can spread to distant sites via hematogenous dissemination. Spinal cord compression complicating thyroid carcinoma is rare with only few cases reported in the literature. This case illustrates a minimally invasive follicular carcinoma that showed such an aggressive behavior, and thus the importance of considering metastatic thyroid carcinoma in the differential diagnosis of chronic back pain, which may possibly progress to spinal cord compression carrying severe morbidity.