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Distinct IDH1/2-associated Methylation Profile and Enrichment of TP53 and TERT Mutations Distinguish Dedifferentiated Chondrosarcoma from Conventional Chondrosarcoma

Dermawan, Josephine Kam Tai; Nafa, Khedoujia; Mohanty, Abhinita; Xu, Yingjuan; Rijo, Ivelise; Casanova, Jacklyn; Villafania, Liliana; Benhamida, Jamal; Kelly, Ciara M; Tap, William D; Boland, Patrick J; Fabbri, Nicola; Healey, John H; Ladanyi, Marc; Lu, Chao; Hameed, Meera
UNLABELLED:-associated methylation and transcriptional profiles as early events in DDCS, which may underlie the pathogenesis of dedifferentiation in chondrosarcomas. SIGNIFICANCE:DDCS is a rare, high-grade chondrosarcoma with a dismal prognosis. About 50%-80% of DDCS harbor IDH1/IDH2 mutations. We uncover a significant alteration of IDH-associated methylation profile in DDCS, which we propose is key to the progression to dedifferentiation. In this context, the potential effect of the use of IDH inhibitors is unclear but important to address, as clinical trials of selective IDH1 inhibitors showed worse outcome in DDCS.
PMID: 36926116
ISSN: 2767-9764
CID: 5560082

Sentinel Lymph Node Biopsy for Extremity and Truncal Soft Tissue Sarcomas: A Systematic Review of the Literature

Keung, Emily Z; Krause, Kate J; Maxwell, Jessica; Morris, Carol D; Crago, Aimee M; Houdek, Matthew T; Kane, John; Lewis, Valerae; Callegaro, Dario; Miller, Benjamin; Lazar, Alexander J; Gladdy, Rebecca; Raut, Chandrajit P; Fabbri, Nicola; Al-Refaie, Waddah; Fairweather, Mark; Wong, Sandra L; Roland, Christina L
BACKGROUND:Regional lymph node metastasis (RLNM) occurs infrequently in patients with soft tissue sarcoma (STS), although certain STS subtypes have a higher propensity for RLNM. The identification of RLNM has significant implications for staging and prognosis; however, the precise impact of node-positive disease on patient survival remains a topic of controversy. Although the benefits of sentinel lymph node biopsy (SLNB) are well documented in patients with melanoma and breast cancer, whether this procedure offers a benefit in STS is controversial. METHODS:A systematic literature search was performed and articles reviewed to determine if SLNB in patients with extremity/truncal STS impacts disease-free or overall survival. RESULTS:Six studies were included. Rates of sentinel lymph node positivity were heterogeneous (range 4.3-50%). The impact of SLNB on patient outcomes remains unclear. The overall quality of available evidence was low, as assessed by the Grading of Recommendations, Assessment, Development, and Evaluation system. CONCLUSIONS:The literature addressing the impact of nodal basin evaluation on the staging and management of patients with extremity/truncal STS is confounded by heterogeneous patient cohorts and clinical practices. Multicenter prospective studies are warranted to determine the true incidence of RLNM and whether SLNB could benefit patients with clinically occult RLNM at diagnosis.
PMID: 36307665
ISSN: 1534-4681
CID: 5354402

ASO Visual Abstract: Sentinel Lymph Node Biopsy for Extremity and Truncal Soft Tissue Sarcomas-A Systematic Review of the Literature

Keung, Emily Z; Krause, Kate J; Maxwell, Jessica; Morris, Carol D; Crago, Aimee M; Houdek, Matthew T; Kane, John; Lewis, Valerae; Callegaro, Dario; Miller, Benjamin; Lazar, Alexander J; Gladdy, Rebecca; Raut, Chandrajit P; Fabbri, Nicola; Al-Refaie, Waddah; Fairweather, Mark; Wong, Sandra L; Roland, Christina L
PMID: 36323987
ISSN: 1534-4681
CID: 5354412

Osteosarcoma as a primary bone tumor in the adult foot: A case report

Babu, S; Prada, Z S; Hahn, C; Baharloo, A; Dini, S; Agaram, N P; Fabbri, N
A 50-year-old male presented with left hallux pain and swelling that was treated for infection. Initial imaging studies were inconclusive, but further evaluation led to a diagnosis of high-grade primary osteosarcoma. Despite surgery and chemotherapy, the disease progressed rapidly, and 7 months after toe amputation multiple lung metastases were discovered. The patient died 15 months after diagnosis. Foot osteosarcomas are extremely rare malignant neoplasms that are often misdiagnosed, resulting in delayed or inappropriate treatment. It is imperative to maintain a high index of suspicion of any destructive bone lesions in the foot, regardless of size and symptom severity.
ISSN: 2667-3967
CID: 5512092

CORR Insights®: Transcutaneous Oximetry Does Not Reliably Predict Wound-healing Complications in Preoperatively Radiated Soft Tissue Sarcoma

Fabbri, Nicola
PMID: 36398332
ISSN: 1528-1132
CID: 5384982

Operative management of metastatic disease of the acetabulum: review of the literature and prevailing concepts

Christ, Alexander B; Bartelstein, Meredith K; Kenan, Shachar; Ogura, Koichi; Fujiwara, Tomohiro; Healey, John H; Fabbri, Nicola
Metastatic disease of the periacetabular region is a common problem in orthopaedic oncology, associated with severe pain, decreased mobility, and substantial decline of the quality of life. Conservative management includes optimisation of pain management, activity modification, and radiation therapy. However, patients with destructive lesions affecting the weight-bearing portion of the acetabulum often require reconstructive surgery to decrease pain and restore mobility. The goal of surgery is to provide an immediately stable and durable construct, allowing immediate postoperative weight-bearing and maintaining functional independence for the remaining lifetime of the patient. A variety of surgical techniques have been reported, most of which are based upon cemented total hip arthroplasty, but also include porous tantalum implants and percutaneous cementoplasty. This review discusses the various reconstructive concepts and options, including their respective indications and outcome. A reconstructive algorithm incorporating different techniques and strategies based upon location and quality of remaining bone is also presented.
PMID: 36225166
ISSN: 1724-6067
CID: 5354392

Quantitative preoperative patient assessments are related to survival and procedure outcome for osseous metastases

Bartelstein, Meredith K; Forsberg, Jonathan A; Lavery, Jessica A; Yakoub, Mohamed A; Akhnoukh, Samuel; Boland, Patrick J; Fabbri, Nicola; Healey, John H
Aims/UNASSIGNED:Our objective was to determine if preoperative patient-reported assessments are associated with survival after surgery for stabilization of skeletal metastases. Patients and Methods/UNASSIGNED:All patients with metastatic cancer to bone and indications for skeletal stabilization surgery were approached to participate in a prospective cohort study at a tertiary care center from 2012 to 2017. Of the 208 patients who were eligible, 195 (94%) completed the 36-item Short Form Health Survey (SF-36) preoperatively and underwent surgical treatment of skeletal metastases with complete or impending fractures; the sample encompassed a range of cancer diagnoses and included cases of both internal fixation and endoprosthetic replacement. Cox proportional hazards models were used to identify associations between SF-36 scores and survival. Results/UNASSIGNED: < 0.001). Conclusions/UNASSIGNED:Patients' preoperative assessments of their health status are associated with their survival after surgery for skeletal metastases. Patient-reported assessments have the potential to contribute unique information to models that estimate patient survival, as part of efforts to provide optimal, individualized care and make informed decisions about the type and magnitude of surgery for metastatic bone disease that will last the patient's lifetime.
PMID: 35615081
ISSN: 2212-1366
CID: 5293792

Evolution of Surgical Management of Metastatic Disease of the Pelvis

Benevenia, Joseph; Guinand, Luis A; Ippolito, Joseph; Neilson, John C; Fabbri, Nicola; Lee, Francis Y; Yang, Rui; Kurland, Adam M
The surgical management of acetabular and pelvic lesions due to metastatic bone disease is complex in nature. These patients are typically in a frail state, having severe pain, limited mobility, and impaired wound healing. This causes a potential for complications, a high concern for the surgeon. Compounding these issues is limited life span for these patients given the advancement of the disease. Considerations for patients undergoing surgical treatment are achievement of significant pain relief and restoration of ambulation, all while having minimal complications during the postoperative period. Management may also include nonsurgical and interventional methods. A multidisciplinary approach is required for the successful treatment of these patients. Although there have been various surgical methods described, there is still no standardized modality that has been noted. These lesions often require complex decision making, imaging, and surgical reconstruction.
PMID: 35254782
ISSN: 0065-6895
CID: 5293782

Periacetabular reconstruction following limb-salvage surgery for pelvic sarcomas

Fujiwara, Tomohiro; Ogura, Koichi; Christ, Alexander; Bartelstein, Meredith; Kenan, Shachar; Fabbri, Nicola; Healey, John
Limb-salvage surgery for pelvic sarcomas remains one of the most challenging surgical procedures for musculoskeletal oncologists. In the past several decades, various surgical techniques have been developed for periacetabular reconstruction following pelvic tumor resection. These methods include endoprosthetic reconstruction, allograft or autograft reconstruction, arthrodesis, and hip transposition. Each of these procedures has its own advantages and disadvantages, and there is no consensus or gold standard for periacetabular reconstruction. Consequently, this review provides an overview of the clinical outcomes for each of these reconstructive options following pelvic tumor resections. Overall, high complication rates are associated with the use of massive implants/grafts, and deep infection is generally the most common cause of reconstruction failure. Functional outcomes decline with the occurrence of severe complications. Further efforts to avoid complications using innovative techniques, such as antibiotic-laden devices, computer navigation, custom cutting jigs, and reduced use of implants/grafts, are crucial to improve outcomes, especially in patients at a high risk of complications.
PMID: 34786331
ISSN: 2212-1366
CID: 5293772

Recurrent loss of chromosome 22 and SMARCB1 deletion in extra-axial chordoma: A clinicopathological and molecular analysis

Wen, Xiaoyun; Cimera, Robert; Aryeequaye, Ruth; Abhinta, Mohanty; Athanasian, Edward; Healey, John; Fabbri, Nicola; Boland, Patrick; Zhang, Yanming; Hameed, Meera
Extra-axial chordoma is a rare neoplasm of extra-axial skeleton and soft tissue that shares identical histomorphologic and immunophenotypic features with midline chordoma. While genetic changes in conventional chordoma have been well-studied, the genomic alterations of extra-axial chordoma have not been reported. It is well known that conventional chordoma is a tumor with predominantly non-random copy number alterations and low mutational burden. Herein we describe the clinicopathologic and genomic characteristics of six cases of extra-axial chordoma, with genome-wide high-resolution single nucleotide polymorphism array, fluorescence in situ hybridization and targeted next-generation sequencing (NGS) analysis. The patients presented at a mean age of 33 years (range: 21-54) with a female to male ratio of 5:1. Four cases were histologically conventional type, presented with bone lesions and three of them had local recurrence. Two cases were poorly differentiated chordomas, presented with intra-articular soft tissue masses and both developed distant metastases. All cases showed brachyury positivity and the two poorly differentiated chordomas showed in addition loss of INI-1 expression by immunohistochemical analysis. Three of four extra-axial conventional chordomas showed simple genome with loss of chromosome 22 or a heterozygous deletion of SMARCB1. Both poorly differentiated chordomas demonstrated a complex hyperdiploid genomic profile with gain of multiple chromosomes and homozygous deletion of SMARCB1. Our findings show that heterozygous deletion of SMARCB1 or the loss of chromosome 22 is a consistent abnormality in extra-axial chordoma and transformation to poorly differentiated chordoma is characterized by homozygous loss of SMARCB1 associated with genomic complexity and instability such as hyperdiploidy.
PMID: 34392582
ISSN: 1098-2264
CID: 5293742