SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas: A Description of the First 652 Cases.

An amplicon-based targeted next-generation sequencing (NGS) assay for the detection of gene fusions in sarcomas was developed, validated, and implemented. This assay can detect fusions in targeted regions of 138 genes and BCOR internal tandem duplications. This study reviews our experience with testing on the first 652 patients analyzed.

Evaluation of Long-Term Follow-Up in Ecchordosis Physaliphora versus Chordoma.

Objective: Ecchordosis physaliphora (EP) is a non-neoplastic notochord remnant with limited literature. We present a review on surgically resected clival EP to evaluate if available follow-up is adequate to distinguish EP from chordomas.

Methods: A systematic literature review was completed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.

Imaging of spinal chordoma and benign notochordal cell tumor (BNCT) with radiologic pathologic correlation.

Benign notochordal cell tumor (BNCT) and chordoma are neoplasms of notochordal differentiation. BNCT represents notochordal rests, commonly an incidental lesion present in the spine in 19% of cadaveric specimens. BNCTs are often radiographically occult.

Posttraumatic Glomus Tumor of the Digital Nerve with Atypical Presentation: A Case Report.

Case: A 53-year-old man sustained an injury to his left index finger and underwent presumably traumatic neuroma excision from the radial digital nerve 2 years ago. He presented with a painful mass distal to the prior site of neuroma excision with distinctly different symptoms from those that led to his index surgery. Thus, he underwent excisional biopsy of the mass which was adherent to his radial digital nerve consistent with a benign glomus tumor on histologic examination.

Juvenile granulosa cell tumor associated with Ollier disease.

Prior case reports have described synchronous ovarian juvenile granulosa cell tumor (JGCT) and enchondromatosis in patients with Ollier disease and Maffucci syndrome. We present a case of a juvenile granulosa cell tumor with an IDH1 somatic mutation identified in the ovarian tissue in a 15-year-old female who presented with abnormal vaginal bleeding, several months of irregular menses, and a large multicystic adnexal mass. Multiple mixed lytic and sclerotic lesions were identified in the bones of the pelvis on imaging studies obtained during the work-up of her abdominal mass.

MRI enhancement patterns in 28 cases of clival chordomas.

Clival chordomas are classically thought of as locally aggressive tumors of the skull base and differentiate themselves from their benign counterparts by demonstrating moderate to marked contrast enhancement, reported as 95-100% in prior studies. The purpose of this review was to evaluate the imaging characteristics of lesions from a single institution classified as clival chordomas with an emphasis of highlighting lesions that do not follow the prevalent current description for chordoma. We searched our institutional databases for all patients with pathologically proven clival chordomas from 1997 to 2017 who had pre-operative imaging available.

Fibrous Dysplasia at Unusual Anatomic Sites: A Series of 86 Cases With Emphasis on Histologic Patterns.

. Fibrous dysplasia (FD) is a benign fibro-osseous neoplasm that most commonly arises in the ribs, femur, and craniofacial bones. We analyzed features of FD arising in the spine/short tubular/small bones of the hands/feet (STSBHF), specifically assessing for pattern of bone formation (conventional, complex/anastomosing, psammomatoid/cementum like), myxoid change, and presence of osteoclast-type giant cells.

An activating germline variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid.

Chondrogenic tumors involving the temporal bone are rare and typically arise spontaneously with unilateral presentation. Somatic mutations are common in these tumors, but germline inheritance has not been documented to our knowledge. We describe familial chondrosarcoma, grade 1, of the mastoid with unilateral presentation in the mother and bilateral presentation in each of her two children.

Giant Cell Tumor of Bone With Cartilage Matrix: A Clinicopathologic Study of 17 Cases.

Giant cell tumor of bone (GCT) is a benign locally aggressive neoplasm composed of mononuclear cells admixed with innumerable osteoclast-type giant cells. H3F3A gene mutations producing mutant histone protein product H3.3 have been identified in 96% of GCT; mutant H3.

Unusual manifestations of diffuse-type tenosynovial giant cell tumor in two patients: importance of radiologic-pathologic correlation.

Diffuse-type tenosynovial giant cell tumor (TSGCT) is a rare, locally aggressive neoplasm. It most commonly occurs in the knee, followed by the hip, and has distinctive imaging features, including mass-like foci of low T2 signal intensity, "blooming" on gradient-echo MRI, and pronounced uptake on FDG PET/CT. Histologically, TSGCT demonstrates a neoplastic population of mononuclear cells admixed with hemosiderin-laden macrophages, foamy histiocytes, inflammatory cells, and osteoclast-like giant cells.

Benign notochordal cell tumor of the clivus with chordoma component: report of 2 cases.

Benign notochordal cell tumors (BNCTs) are considered to be benign intraosseous lesions of notochord origin; however, recent spine studies have suggested the possibility that some chordomas arise from BNCTs. Here, the authors describe two cases demonstrating histological features of BNCT and concomitant chordoma involving the clivus, which, to the best of the authors' knowledge, have not been previously documented at this anatomical site.An 18-year-old female presented with an incidentally discovered clival mass.

Chondroblastomas presenting in adulthood: a study of 39 patients with emphasis on histological features and skeletal distribution.

Aims: Chondroblastomas (CB) are rare bone tumours that typically arise in the epiphysis/apophysis of long bones in skeletally immature patients. We explore the clinicopathological features of CB presenting in adults.

Methods And Results: CB in patients ≥20 years of age were retrieved from our institutional archives.

Chondrosarcoma arising within synovial chondromatosis of the lumbar spine.

Synovial chondromatosis is an uncommon benign neoplasm that usually affects large appendicular joints and only rarely the spine. There are only a few small series and case reports documenting malignant transformation of synovial chondromatosis into secondary chondrosarcoma, typically within the hip in the setting of recalcitrant disease and multiple recurrences. Chondrosarcoma arising in synovial chondromatosis of the spine is exceedingly rare, with only one previously published case report involving the craniocervical junction.

Adamantinoma of bone: Long-term follow-up of 46 consecutive patients.

Background: Adamantinomas are rare bone tumors, commonly affecting the tibia. Due to the rare nature of disease, previous studies are small or from multiple centers. The purpose of this study is to investigate outcomes of patients with adamantinoma treated in a single institution.

Giant Cell Tumor of Bone in Patients 55 Years and Older: A Study of 34 Patients.

Objectives: Most giant cell tumors of bone (GCTs) occur in patients aged 20 to 40 years. We analyzed features of GCT in patients 55 years or older.

Methods: GCTs were examined for fibrosis, matrix, cystic change, histiocytes, mitoses, and necrosis.

Conditions Simulating Primary Bone Neoplasms.

A number of nonneoplastic conditions can mimic tumors of bone. Some of the more common mimics of primary bone tumors include infectious, inflammatory, periosteal, and degenerative joint disease-associated lesions that produce tumorlike bone surface-based or intraosseous lesions. This article considers a spectrum of reactive and nonreactive processes including stress fracture, subchondral cysts, osteonecrosis, heterotopic ossification, osteomyelitis, sarcoidosis, and amyloidoma that can present in such a way that they are mistaken for a tumor arising primary in bone.

Tenosynovial giant cell tumors of the temporomandibular joint and lateral skull base: Review of 11 cases.

Objectives: To elucidate the clinical behavior, treatment, and outcomes of tenosynovial giant cell tumors (TGCT) involving the temporomandibular joint (TMJ) and adjacent temporal bone.

Study Design: Retrospective case series with histopathologic review.

Methods: A retrospective chart review was performed identifying and collecting data from all cases of TGCT involving the TMJ and adjacent temporal bone that were treated at the authors' center between January 1960 and December 2015.

Atypical Notochordal Cell Tumors: A Series of Notochordal-derived Tumors That Defy Current Classification Schemes.

By the current WHO classification, benign notochordal cell tumor (BNCT) and chordoma comprise the entire spectrum of notochordal-derived tumors. They have defined radiologic and histologic criteria, and differ considerably in management and clinical outcome. Chordomas are malignant tumors; they show progressive, destructive growth and have the capacity for metastasis.

Imaging characteristics of intravascular papillary endothelial hyperplasia.

Purpose: Intravascular papillary endothelial hyperplasia (IPEH) is a soft tissue, tumor-like, benign, reactive, vascular proliferation that, although not rare, is uncommonly imaged. We report the imaging findings of intravascular papillary endothelial hyperplasia in 13 patients, highlighting characteristic imaging features.

Materials And Methods: We retrospectively reviewed 13 patients with IPEH who had corresponding MR and/or ultrasound imaging.

Histologic Spectrum of Giant Cell Tumor (GCT) of Bone in Patients 18 Years of Age and Below: A Study of 63 Patients.

Although the majority of giant cell tumors (GCTs) of the bone occur in adult patients, occasionally they arise in the pediatric population. In this setting they may be mistaken for tumors more commonly seen in this age group, including osteosarcoma, aneurysmal bone cyst, and chondroblastoma. All cases of primary GCT of the bone arising in patients 18 years and below were retrieved from our institutional archives and examined with emphasis on the evaluation of various morphologic patterns.

Atypical cartilaginous tumor/chondrosarcoma, grade 1, of the mastoid in three family members: A new entity.

We present a case series of a family with three members having cartilaginous tumors of the mastoid. All patients presented between the ages of 9 to 12 years with acute onset facial nerve paralysis. Histologic analysis of all tumors showed similar features, consistent with atypical cartilaginous tumors/chondrosarcoma, low-grade.