DNA Mutational and Copy Number Variation Profiling of Primary Craniofacial Osteosarcomas by Next-Generation Sequencing.

BACKGROUND: Craniofacial osteosarcomas (CFOS) are uncommon malignant neoplasms of the head and neck with different clinical presentation, biological behavior and prognosis from conventional osteosarcomas of long bones. Very limited genetic data have been published on CFOS. METHODS: In the current study, we performed comprehensive genomic studies in 15 cases of high-grade CFOS by SNP array and targeted next generation sequencing. RESULT: Our study shows high-grade CFOS demonstrate highly complex and heterogenous genomic alterations and harbor frequently mutated tumor suppressor genes TP53, CDKN2A/B, and PTEN, similar to conventional osteosarcomas. Potentially actionable gene amplifications involving CCNE1, AKT2, MET, NTRK1, PDGFRA, KDR, KIT, MAP3K14, FGFR1, and AURKA were seen in 43% of cases. GNAS hotspot activating mutations were also identified in a subset of CFOS cases, with one case representing malignant transformation from fibrous dysplasia, suggesting a role for GNAS mutation in the development of CFOS. CONCLUSION: High-grade CFOS demonstrate highly complex and heterogenous genomic alterations, with amplification involving receptor tyrosine kinase genes, and frequent mutations involving tumor suppressor genes.

Paratesticular leiomyosarcoma with metastasis to the extremities and lungs.

Paratesticular leiomyosarcoma is a rare malignant tumor deriving from the smooth muscle of structures surrounding the testes, including the epididymis or scrotum. With few cases of genitourinary soft tissue sarcomas reported in the literature, little is known about progression, management, and treatment. Herein, we report a case of metastatic paratesticular leiomyosarcoma in a 47-year-old male with no past urological history. The patient initially presented with a firm, painless right scrotal mass, and ultimately developed soft tissue and pulmonary metastases.

Intraosseous hibernoma: Two case reports and a review of the literature.

Intraosseous hibernomas are exceedingly rare tumors with only 35 cases reported worldwide. They are composed of vestigial brown adipose tissue and require biopsy and pathologic analysis for definitive diagnosis. Given their propensity to mimic more insidious malignant neoplasms, early and accurate identification may spare the patient both anxiety and invasive therapeutic interventions. In this report, we present two cases of intraosseous hibernomas and provide a review of current literature to further characterize the clinical, radiographic, and histopathologic parameters of these lesions. Clinicians should consider the diagnosis of intraosseous hibernoma when evaluating patients with characteristic presentations as it may be more prevalent than currently reported.

Ancient Schwannoma with Hemorrhagic Degeneration Causing Chronic Intramuscular Hematoma: A Case Report.

Introduction: The value of this manuscript is that it highlights a common diagnostic challenge facing orthopedic surgeons, involving the reality that both benign and malignant soft-tissue tumors can present as large cystic masses masquerading as a hematoma. This is the first report of its kind to describe a schwannoma presenting as such a large hematoma in the thigh. Case Presentation: A 64-year-old male presented with 2 days of worsening pain over a left posterior thigh mass that was enlarging for 12 years. Imaging demonstrated a cystic mass. 1.8L of serosanguinous fluid was aspirated and cytology was negative for malignancy, suggesting chronic hematoma. The fluid reaccumulated, indicating surgical management. Histopathology revealed a hemorrhagic ancient schwannoma. Conclusion: Without history of trauma or anticoagulation, intramuscular hematoma should be a diagnosis of exclusion. Burden of proof is high to rule-out a neoplastic process masquerading as fluid collection. Biopsies should be taken and schwannoma with ancient change and cystic degeneration should be considered.

HIV-Associated "Double-Hit" Lymphoma of the Tonsil: A First Reported Case.

Double-hit lymphoma (DHL) is a unique subtype of non-Hodgkin lymphoma characterized by atleast two rearrangements involving MYC, BLC2, and/or BCL6. These lymphomas are uncommon and aggressive, responding poorly to typical chemotherapy regimens. Lymphomas rarely arise from the oral cavity or tonsils, and those presenting as a neck mass are predominantly diffuse large B-cell lymphoma. To date, primary DHL of the tonsils has yet to be described in the literature. Here, we report a case of a 44 year-old male patient with well-controlled human immunodeficiency virus (HIV) who presented with a sore throat. He subsequently developed acute respiratory compromise due to a rapidly enlarging tonsillar mass. Pathologic and genetic analysis confirmed the presence of BCL6 and MYC rearrangements suggestive of DHL of the tonsils. In a young patient with HIV and a neck mass, it is essential that lymphoma remains on the list of differential diagnoses as prompt diagnosis and treatment may prevent complications from its rapid expansion.