ABSTRACT
Chondroblastoma is currently classified as a benign neoplasm; however, chondroblastoma and chondroblastoma-like osteosarcoma have morphologic overlap, raising the possibility that some tumors diagnosed as chondroblastoma-like osteosarcoma might actually represent malignant chondroblastoma. The H3F3B K36M point mutation, which has not been reported in osteosarcoma, is identified in 95% of chondroblastomas and is reliably detectable by immunohistochemistry (IHC). We reviewed 11 tumors diagnosed as atypical chondroblastoma, malignant chondroblastoma, or chondroblastoma-like osteosarcoma (median follow-up: 8.8 years; range: 4 months-26.4 years). Seven chondroblastomas with cytologic atypia and permeative growth were designated "malignant chondroblastoma"; six were H3K36M-positive by IHC. Relative to conventional chondroblastoma, malignant chondroblastoma occurred in older individuals (median: 52 years; range: 29-57 years) and arose at unusual sites. Three of four tumors with long-term follow-up recurred, and one patient died of widespread metastases. One was found to have chromosomal copy number alter4ations and a SETD2 mutation in addition to H3F3B K36M. The four remaining tumors were classified as chondroblastoma-like osteosarcoma. Chondroblastoma-like osteosarcoma occurred in younger patients (median: 21 years; range: 19-40 years) than malignant chondroblastoma. In contrast to malignant chondroblastoma, all had regions of malignant cells forming bone. Two of three patients with long-term follow-up developed recurrences, and two died of disease, one with widespread metastases. No mutations in H3F3A/H3F3B were detected by Sanger sequencing. While malignant chondroblastoma and chondroblastoma-like osteosarcoma show significant morphologic overlap, they have distinct clinical presentations and genetic findings. When considering this challenging differential diagnosis, IHC using histone H3 mutation-specific antibodies is a critical diagnostic adjunct.
Subject(s)
Bone Neoplasms/pathology , Chondroblastoma/pathology , Neoplasm Recurrence, Local/pathology , Adult , Biomarkers, Tumor/genetics , Bone Neoplasms/genetics , Bone Neoplasms/metabolism , Chondroblastoma/genetics , Chondroblastoma/metabolism , Female , Histone-Lysine N-Methyltransferase/genetics , Histone-Lysine N-Methyltransferase/metabolism , Histones/genetics , Histones/metabolism , Humans , Immunohistochemistry , Male , Middle Aged , Mutation , Neoplasm Recurrence, Local/metabolismABSTRACT
The diagnosis of small round cell tumors always has been extremely difficult, and our current classification systems continue to evolve. Since its initial discovery by Dr James Ewing, the historical context of what is acceptably included under the designation "Ewing sarcoma" has changed. Although Ewing sarcoma and primitive neuroectodermal tumor were both initially described in the early 20th century, these tumors were considered likely distinct entities until the end of that same century, almost 75 years later. With modern immunohistochemistry and more recent advances in molecular techniques, the understanding of Ewing sarcoma and Ewing-like tumors has improved dramatically but also raises new questions and challenges. We now know that this category of tumors is remarkably more heterogenous than initially thought, especially in regards to its cytogenetics and molecular properties, and some of these differences likely have prognostic relevance. Whether we are now expanding the spectrum of Ewing sarcoma or simply recognizing new entities is controversial. Therapeutic approaches to address these new categories and/or entities need further focus and attention. Herein, we provide a comprehensive historical perspective on Ewing sarcoma, Ewing-like tumors (CIC and BCOR-rearranged sarcomas), and related and/or similar small round cell tumors, often included in the differential diagnosis, including mesenchymal chondrosarcoma, desmoplastic small round cell tumor, and small cell osteosarcoma. We also seek to provide updates and insights into the evolving classification and clinical relevance of the Ewing family of tumors.
Subject(s)
Bone Neoplasms/pathology , Pathology , Sarcoma, Ewing/pathology , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Biopsy , Bone Neoplasms/chemistry , Bone Neoplasms/genetics , Bone Neoplasms/history , Diagnosis, Differential , Diffusion of Innovation , Forecasting , History, 20th Century , History, 21st Century , Humans , Immunohistochemistry , Molecular Diagnostic Techniques , Pathology/history , Pathology/trends , Predictive Value of Tests , Sarcoma, Ewing/chemistry , Sarcoma, Ewing/genetics , Sarcoma, Ewing/historyABSTRACT
Extraskeletal osteosarcoma is a rare disease that uncommonly affects the upper extremity. A 46-year-old African American man presented for evaluation of a right middle finger mass. Excisional biopsy demonstrated extraskeletal osteosarcoma of the soft tissues. We performed a transmetacarpal ray resection.
Subject(s)
Fingers/surgery , Osteosarcoma/pathology , Soft Tissue Neoplasms/pathology , Amputation, Surgical , Fingers/diagnostic imaging , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Osteosarcoma/diagnostic imaging , Osteosarcoma/surgery , Radiography , Soft Tissue Neoplasms/diagnostic imaging , Soft Tissue Neoplasms/surgerySubject(s)
Myoepithelioma , Octamer Transcription Factor-3 , Proto-Oncogene Proteins , Repressor Proteins , Sarcoma, Synovial , Soft Tissue Neoplasms/classification , Back/pathology , Biomarkers, Tumor/metabolism , Child , Female , Humans , In Situ Hybridization, Fluorescence/methods , Lymph Nodes/pathology , Myoepithelioma/diagnosis , Myoepithelioma/pathology , Neoplasm Staging , Octamer Transcription Factor-3/metabolism , Oncogene Proteins, Fusion/metabolism , Pathology, Molecular/methods , Proto-Oncogene Proteins/metabolism , Repressor Proteins/metabolism , Sarcoma, Synovial/diagnosis , Sarcoma, Synovial/pathology , Soft Tissue Neoplasms/diagnosis , Soft Tissue Neoplasms/pathologyABSTRACT
Mesenchymal lesions of the breast are uncommon lesions which present diagnostic dilemmas for even the most experienced pathologists. Here, we present two cases of the epithelioid-variant of myofibroblastoma which were misdiagnosed as malignant lesions. Careful integration of clinical presentation, imaging, and close examination of the gross, histologic, and immunohistochemical findings can assist in differentiating these challenging lesions and avoiding diagnostic pitfalls.
Subject(s)
Breast Neoplasms/pathology , Carcinoma/pathology , Neoplasms, Muscle Tissue/pathology , Aged , Breast Neoplasms/chemistry , Diagnosis, Differential , Female , Humans , Immunohistochemistry , Middle Aged , Neoplasms, Muscle Tissue/chemistryABSTRACT
Historically, the diagnosis of giant cell-rich neoplasms arising in bone has been challenging owing to overlapping clinical and radiographic findings resulting in the difficult separation of several neoplasms, particularly when biopsy material is limited. However, with the discovery of the driver histone mutations in giant cell tumor of bone (GCTB) and chondroblastoma, as well as USP6 rearrangements in aneurysmal bone cyst, pathologists now have objective ancillary tools to aid in the separation of several histologically similar giant cell-rich neoplasms. Furthermore, the recognition of histone mutations has allowed pathologists to revisit several entities, such as "malignant chondroblastoma," and furthered our understanding of phenomena such as "aneurysmal bone cyst-like change," formerly recognized as "secondary aneurysmal bone cyst." Herein, the evolution of testing for histone mutations in bone tumors is considered; the sensitivity and specificity of the histone antibodies is reviewed; and a practical guide for the use of these ancillary tests is offered.
Subject(s)
Biomarkers, Tumor , Bone Neoplasms , Histones , Mutation , Humans , Bone Neoplasms/genetics , Bone Neoplasms/pathology , Histones/genetics , Biomarkers, Tumor/genetics , Biomarkers, Tumor/analysis , Giant Cell Tumor of Bone/genetics , Giant Cell Tumor of Bone/pathology , Predictive Value of Tests , Chondroblastoma/pathology , Chondroblastoma/genetics , ImmunohistochemistryABSTRACT
BACKGROUND: Bertolotti syndrome (BS) is characterized by chronic pain and functional impairment associated with lumbosacral transitional vertebrae (LSTVs). The study aimed to investigate the histologic characteristics of the pseudoarticulation between the enlarged transverse process and sacrum seen in Castellvi 2a LSTV and explore the involvement of nervous tissue in pain generation. METHODS: Immunohistochemical analysis using S100 protein staining was performed to assess the presence of nerve tissue. RESULTS: These changes included fibrillation, chondrocyte cloning, alterations in the proteoglycan matrix, and focal chondrocyte necrosis. Notably, no nerve tissue was observed in any of the specimens, as confirmed by negative S100 protein staining. CONCLUSIONS: The study findings suggest that nerve tissue is not involved in the nociceptive mechanisms underlying pain in BS. The histologic similarities between the pseudoarticulation and osteoarthritic joints indicate that pseudoarticulation itself may be a significant source of pain in BS. These insights contribute to our understanding of the pathophysiology of BS and support treatment paradigms prioritizing pain control with medications such as NSAIDs before considering surgical intervention. Future studies with larger sample sizes and in vivo models are needed to further validate these findings and explore the changes in joint histology under biomechanical forces in LSTVs.
ABSTRACT
The calcified chondroid mesenchymal neoplasm (CCMN) represents a recently recognized tumor type with only 50 well-documented cases in the English-language literature. Herein we report an additional case of CCMN presenting as a large mass in the temporomandibular joint region of a 41-year-old female. A review of previously reported cases and the current case of CCMN shows the following features: 1) average age 52 years (range 14-87 years) and an approximately even sex distribution; 2) most frequently involved sites: distal extremities (including foot, hand, wrist, forearm) (n=41) and temporomandibular joint/temporal/parotid region (n=9); 3) multilobular soft tissue tumor with chondroid to cartilaginous matrix, often grungy or lace-like calcifications, and variable cytologic atypia; 4) frequently detected FN1 rearrangement (n=15), including FN1 fusion with FGFR2 (n=7) or other receptor tyrosine kinases; 5) 2 reported local recurrences (after incomplete excision); 6) no reports of malignant biologic behavior.
Subject(s)
Calcinosis , Neoplasms , Adult , Female , Humans , Calcinosis/pathology , Calcinosis/diagnostic imaging , Calcinosis/surgery , Diagnosis, Differential , Temporomandibular Joint Disorders/pathology , Temporomandibular Joint Disorders/diagnostic imaging , Temporomandibular Joint Disorders/surgery , Neoplasms/diagnosis , Neoplasms/pathology , Neoplasms/therapyABSTRACT
PURPOSE: In this study, we used a series of immunohistochemical measurements of 2 cell cycle regulators, p16 and p21, to evaluate their prognostic value, separately and in combination, for the disease outcomes. METHOD: A total of 101 patients with high-grade osteosarcoma were included in this study. Clinicopathologic data were collected, and immunohistochemistry for p16 and p21 was performed and interpreted by 3 independent pathologists. Statistical analysis was performed to assess the strength of each of these markers relative to disease outcome. RESULTS: Our results indicate that more than 90% expression (high) of p16 by immunohistochemistry on the initial biopsy has a strong predictive value for good histologic response to chemotherapy. The patients are also more likely to survive the past 5 years and less likely to develop metastasis than patients with less than 90% p16 (low) expression. The results for p21, on the other hand, show a unique pattern of relationship to the clinicopathologic outcomes of the disease. Patients with less than 1% (low) or more than 50% (high) expression of p21 by immunohistochemistry show a higher chance of metastasis, poor necrotic response to chemotherapy, and an overall decreased survival rate when compared with p21 expression between 1% and 50% (moderate). Our results also showed that the expression of p16 and combined p16 and p21 demonstrates a stronger predictive relationship to 5-year survival than tumor histologic necrosis and p21 alone. DISCUSSION: The results of this study, once proven to be reproducible by a larger number of patients, will be valuable in the initial assessment and risk stratification of the patients for treatment and possibly the clinical trials.
Subject(s)
Biomarkers, Tumor , Bone Neoplasms , Cyclin-Dependent Kinase Inhibitor p16 , Cyclin-Dependent Kinase Inhibitor p21 , Osteosarcoma , Humans , Osteosarcoma/mortality , Osteosarcoma/pathology , Osteosarcoma/metabolism , Osteosarcoma/drug therapy , Osteosarcoma/diagnosis , Osteosarcoma/therapy , Cyclin-Dependent Kinase Inhibitor p16/metabolism , Male , Cyclin-Dependent Kinase Inhibitor p21/metabolism , Female , Adult , Prognosis , Adolescent , Bone Neoplasms/pathology , Bone Neoplasms/mortality , Bone Neoplasms/metabolism , Child , Biomarkers, Tumor/metabolism , Young Adult , Middle Aged , Immunohistochemistry , Neoplasm Grading , Cell Cycle Checkpoints , AgedABSTRACT
Soft tissue sarcoma is a rare malignancy, with approximately 11,000 cases per year encountered in the United States. It is primarily encountered in adults but can affect patients of any age. There are many histologic subtypes and the malignancy can be low or high grade. Appropriate staging work up includes a physical exam, advanced imaging, and a carefully planned biopsy. This information is then used to guide the discussion of definitive treatment of the tumor which typically involves surgical resection with a negative margin in addition to neoadjuvant or adjuvant external beam radiation. Advances in imaging and radiation therapy have made limb salvage surgery the standard of care, with local control rates greater than 90% in most modern series. Currently, the role of chemotherapy is not well defined and this treatment is typically reserved for patients with metastatic or recurrent disease and for certain histologic subtypes. The goal of this paper is to review the current state of the art in multidisciplinary management of soft tissue sarcoma.
Subject(s)
Combined Modality Therapy , Sarcoma/therapy , HumansABSTRACT
Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disease of unknown etiology. Typically presenting with cervical adenopathy and constitutional symptoms, RDD involves bone in less than 10% of cases-and rarely presents as a primary intraosseous lesion. In this report, we describe the presentation of primary, bilateral intraosseous RDD, the first known case in the literature. Asymmetrically involving the lateral femoral condyles of a 59-year-old male, the lesion was discovered incidentally during evaluation and workup for giant cell tumor of bone involving the left tibia. Confirmation of the diagnosis required multiple biopsies and extensive evaluation-reflecting the diagnostic challenge associated with this case. We discuss the clinical, radiological, and pathological findings that allowed us to establish the diagnosis-as well as key differential diagnostic considerations and clinical outcome to date.
Subject(s)
Histiocytosis, Sinus , Lymphadenopathy , Male , Humans , Middle Aged , Histiocytosis, Sinus/pathology , Diagnosis, Differential , Lymphadenopathy/diagnosis , BiopsyABSTRACT
Osteoid osteomas typically arise in the long bones of extremities. Patients often report pain relieved by NSAIDS, and radiographic findings are often sufficient for diagnosis. However, when involving the hands/feet, these lesions may go unrecognized or misdiagnosed radiographically due to their small size and prominent reactive changes. The clinicopathologic features of this entity involving the hands and feet are not well-described. Our institutional and consultation archives were searched for all cases of pathologically confirmed osteoid osteomas arising in the hands and feet. Clinical data was obtained and recorded. Seventy-one cases (45 males and 26 females, 7 to 64 years; median 23 years) arose in the hands and feet, representing 12% of institutional and 23% of consultation cases. The clinical impression often included neoplastic and inflammatory etiologies. Radiology studies demonstrated a small lytic lesion in all cases (33/33), the majority of which had a tiny focus of central calcification (26/33). Nearly, all cases demonstrated cortical thickening and/or sclerosis and perilesional edema which almost always had an extent two times greater than the size of the nidus. Histologic examination showed circumscribed osteoblastic lesions with formation of variably mineralized woven bone with single layer of osteoblastic rimming. The most common growth pattern of bone was trabecular (n = 34, 48%) followed by combined trabecular and sheet-like (n = 26, 37%) with only 11 (15%) cases presenting with pure sheet-like growth pattern. The majority (n = 57, 80%) showed intra-trabecular vascular stroma. No case showed significant cytology atypia. Follow up was available for 48 cases (1-432 months), and 4 cases recurred. Osteoid osteomas involving the hands and feet follow a similar age and sex distribution as their non-acral counterparts. These lesions often present with a broad differential diagnosis and may initially be confused with chronic osteomyelitis or a reactive process. While the majority of cases have classic morphologic features on histologic exam, a small subset consists solely of sheet-like sclerotic bone. Awareness that this entity may present in the hands and feet will help pathologists, radiologists, and clinicians accurately diagnose these tumors.
Subject(s)
Bone Neoplasms , Osteoma, Osteoid , Male , Female , Humans , Osteoma, Osteoid/diagnosis , Osteoma, Osteoid/pathology , Bone Neoplasms/pathology , Neoplasm Recurrence, Local/diagnosis , Bone and Bones , Diagnosis, DifferentialABSTRACT
Background: Time to treatment initiation (TTI) is a quality metric in cancer care. The purpose of this study is to determine the accuracy of TTI data from a single cancer center registry that reports to the National Cancer Database (NCDB) for sarcoma diagnoses. Methods: A retrospective analysis of a single Commission on Cancer (CoC)-accredited cancer center's tumor registry between 2006 and 2016 identified 402 patients who underwent treatment of a musculoskeletal soft tissue sarcoma and had TTI data available. Registry-reported TTI was extracted from the tumor registry. Effective TTI was manually calculated by medical record review as the number of days from the date of tissue diagnosis to initiation of first effective treatment. Effective treatment was defined as oncologic surgical excision or initiation of radiation therapy or chemotherapy. Registry-reported TTI and effective TTI values were compared for concordance in all patients. Results: In the entire cohort, 25% (99/402) of patients had TTI data discordance, all related to surgical treatment definition. For patients with a registry-reported value of TTI = 0 days, 74% (87/118) had a diagnostic surgical procedure coded as their first treatment event, with 73 unplanned incomplete excision procedures and 14 incisional biopsies. In these patients, effective TTI was on average 59 days (P < 0.001). For patients with a registry-reported value of TTI >0 days, only 4% (12/284) had discordant TTI values. Conclusions: Nearly three-fourths of patients with a registry-reported value of TTI = 0 days in a large, CoC-accredited cancer center registry had a diagnostic procedure coded as their first treatment event, though their effective treatment had not yet started. These data suggest that TTI is likely longer than what is reported to the NCDB. Redefinition of what constitutes surgical treatment should be considered to improve the accuracy of data used in measuring TTI in sarcoma.
ABSTRACT
Background: Radiation after resection of an atypical lipomatous tumor (ALT) is controversial. This study evaluates local control and complications after the first resection of ALTs of the extremity with or without adjuvant radiation. Methods: A dual institution, retrospective review of patients treated from 1995 to 2020 with first-time resection of an ALT in the extremity was performed. In total, 102 patients underwent adjuvant radiation (XRT group) and 68 patients were treated with surgery alone (no-XRT group). The median follow-up time was 4.6 years (interquartile range (IQR) 2.0-7.3 years). The median radiation dose was 60 Gy (IQR 55-66 Gy). Univariable and multivariable analyses evaluated the association of patient, tumor, and treatment variables with recurrence and complications. Kaplan-Meier analysis evaluated local recurrence-free survival (LRFS) and time to complication. Results: The overall incidence of local recurrence was 1% (1/102) in the XRT group and 24% (16/68) in the no-XRT group (p < 0.001). The median time-to-recurrence was 8.2 years (IQR 6.5-10.5 years). In the XRT and the no-XRT groups, 5-yr LRFS was 98% and 92% (p=0.21) and 10-yr LRFS was 98% and 41% (p < 0.001), respectively. The absence of radiation (HR = 23.63, 95% CI (3.09-180.48); p < 0.001) and R2 surgical resection margins (HR = 11.04, 95% CI (2.07-59.03); p < 0.001) incurred a 23-fold and 11-fold increased risk of local recurrence, respectively, while tumor size, depth, location, and neurovascular involvement were not found to be independent predictors of recurrence. The complication rate was 37% (38/102) in the XRT group and 10% (7/68) in the no-XRT group (p < 0.001). Eight patients (8/102, 8%) required surgical management for complication in the XRT group compared with two patients (2/68, 3%) in the no-XRT group (p=0.10). Higher radiation dose had a modest correlation with increased severity of complication (ρ=0.24; p=0.02). Conclusions: Adjuvant radiation after first-time resection of an ALT of the extremity was associated with a significantly reduced risk of local recurrence but a three-fold increase in complication rate. These data support a 10-year follow-up for these patients and inform a notable clinical trade-off if considering adjuvant radiation for this tumor with recurrent potential.
ABSTRACT
This report evaluates the spatial profile of blood vessel fragments (BVFs) and CD34(+) and CD117(+) hematopoietic stem and progenitor cells (HSPCs) in human cancellous bone. Bone specimens were sectioned, immunostained (anti-CD34 and anti-CD117), and digitally imaged. Immunoreactive cells and vessels were then optically and morphometrically identified and labeled on the corresponding digital image. The distance of each BVF, or CD34(+) or CD117(+) HSPC to the nearest trabecular surface was measured and binned in 50-microm increments. The relative concentration of HSPCs and BVFs within cancellous marrow was observed to diminish with increasing distance in the marrow space. On average, 50% of the CD34(+) HSPC population, 60% of the CD117(+) HSPC population, and 72% of the BVFs were found within 100 microm of the bone surfaces. HSPCs were also found to exist in close proximity to BVFs, which supports the notion of a shared HSPC and vessel spatial niche.
Subject(s)
Bone Marrow Cells/cytology , Bone Marrow/anatomy & histology , Bone Marrow/blood supply , Hematopoietic Stem Cells/cytology , Antigens, CD34/metabolism , Bone Marrow Cells/immunology , Cell Count , Hematopoietic Stem Cells/immunology , Humans , Ilium/blood supply , Ilium/cytology , Lumbar Vertebrae/blood supply , Lumbar Vertebrae/cytology , Proto-Oncogene Proteins c-kit/metabolism , Ribs/blood supply , Ribs/cytologyABSTRACT
Fibrocartilaginous mesenchymoma is a rare osseous tumor that primarily arises in the long bones of children and adolescents. This lesion can grow quickly and reach a considerable size, despite its benign nature. It has proved challenging to diagnose and can be mistaken for a spectrum of benign and malignant bone tumors. The histological presentation of unique epiphyseal plate-like cartilage with destruction of the surrounding cortical bone and exhibition of dense fibrous stroma are important indicators for the diagnosis of fibrocartilaginous mesenchymoma. An 11-year-old boy presented with a left proximal humerus mass thought to be an aneurysmal bone cyst. The patient was lost to follow-up and came back 3 years later with massive growth of the lesion. Owing to the aggressive nature of the tumor, a left forequarter amputation was performed. Histological examination demonstrated numerous islands of cartilage with an exuberant spindle cell component characteristic of FCM. No distant metastases or local recurrences were identified at 2 years post-amputation. Because of the rapid growth of this lesion, it should be considered in the differential diagnosis of bone lesions in children and young adults.
Subject(s)
Bone Neoplasms/pathology , Humerus , Mesenchymoma/pathology , Adolescent , Bone Neoplasms/diagnostic imaging , Humans , Humerus/diagnostic imaging , Humerus/pathology , Male , Mesenchymoma/diagnostic imaging , RadiographyABSTRACT
Chondroid lipoma, a rare benign adipose tissue tumor, may histologically resemble myxoid liposarcoma or extraskeletal myxoid chondrosarcoma, but is genetically distinct. In this study, an identical reciprocal translocation, t(11;16)(q13;p13), was identified in three chondroid lipomas, a finding consistent with previously isolated reports. A fluorescence in situ hybridization (FISH)-based positional cloning strategy using a series of bacterial artificial chromosome (BAC) probe combinations designed to narrow the 16p13 breakpoint revealed MKL2 as the candidate gene. Subsequent 5' RACE studies demonstrated C11orf95 as the MKL2 fusion gene partner. MKL/myocardin-like 2 (MKL2) encodes myocardin-related transcription factor B in a megakaryoblastic leukemia gene family, and C11orf95 (chromosome 11 open reading frame 95) is a hypothetical protein. Sequencing analysis of reverse transcription-polymerse chain reaction (RT-PCR) generated transcripts from all three chondroid lipomas defined the fusion as occurring between exons 5 and 9 of C11orf95 and MKL2, respectively. Dual-color breakpoint spanning probe sets custom-designed for recognition of the translocation event in interphase cells confirmed the anticipated rearrangements of the C11orf95 and MKL2 loci in all cases. The FISH and RT-PCR assays developed in this study can serve as diagnostic adjuncts for the identification of this novel C11orf95-MKL2 fusion oncogene in chondroid lipoma.
Subject(s)
Chromosomes, Human, Pair 11/genetics , Chromosomes, Human, Pair 16/genetics , Lipoma/genetics , Oncogene Fusion/genetics , Transcription Factors/genetics , Translocation, Genetic/genetics , Adult , Aged , Female , Humans , Immunoenzyme Techniques , In Situ Hybridization, Fluorescence , Karyotyping , Male , Middle Aged , Open Reading Frames , RNA, Messenger/genetics , RNA, Neoplasm/genetics , Reverse Transcriptase Polymerase Chain Reaction , Young AdultABSTRACT
For decades, the diagnosis, treatment, and even pathogenesis of the osteofibrous dysplasia/osteofibrous dysplasia-like adamantinoma/classic adamantinoma spectrum of neoplasms have been controversial. Herein, we discuss and illustrate the radiographic and histologic spectrum, differential diagnoses, unifying chromosomal and molecular abnormalities, and current controversies and treatment recommendations for each entity.
Subject(s)
Adamantinoma , Bone Diseases, Developmental , Bone Neoplasms , Adamantinoma/diagnosis , Bone Diseases, Developmental/diagnosis , Bone Diseases, Developmental/genetics , Bone Neoplasms/diagnosis , Diagnosis, Differential , HumansABSTRACT
CONTEXT.: The incidence, distribution, and significance of calcium pyrophosphate dihydrate deposition (CPPD) disease have not been extensively compared among various total joint resections. OBJECTIVE.: To investigate and define the clinical and pathologic features of CPPD in hip, shoulder, and knee arthroplasties. DESIGN.: We retrospectively reviewed consecutive total hip, knee, and shoulder arthroplasty cases (N = 3195) confirmed pathologically between January 1, 2017, and October 10, 2018, comparing clinical and pathologic data. RESULTS.: Among 2004 hip arthroplasties, 61 (3%) had CPPD on pathologic examination; the majority had a histologic diagnosis of osteoarthritis, followed by fracture and avascular necrosis. Of 1113 knee arthroplasties, 98 (9%) had CPPD; all had a histologic diagnosis of osteoarthritis. Among 78 shoulder arthroplasties, 10 (13%) had CPPD; all but one had a histologic diagnosis of osteoarthritis. Patients with hip and knee CPPD were significantly older than those without CPPD. Of the 169 pathologically detected CPPD cases, only 35 (21%) were documented on preoperative radiologic images or by other clinical means; radiology reports were significantly more likely to document chondrocalcinosis in the knees than in the hips. Histologically, CPPD was noted almost exclusively in the separately submitted soft tissues/joint capsule, concomitantly involving the articular cartilage surface in only 3.0% (5 of 169) of cases. CONCLUSIONS.: Calcium pyrophosphate dihydrate deposition is more than twice as likely to occur in the knees and shoulders compared with the hips. Patients with CPPD in the knees or hips are usually not recognized preoperatively/radiologically and constitute a significantly older population. Reliably establishing the diagnosis of CPPD requires pathologic examination of the submitted soft tissue/joint capsule.
Subject(s)
Calcium Pyrophosphate , Shoulder Joint , Arthroplasty , Humans , Incidence , Knee Joint/diagnostic imaging , Knee Joint/surgery , Retrospective Studies , Shoulder Joint/diagnostic imaging , Shoulder Joint/surgeryABSTRACT
OBJECTIVES: To evaluate the necessity of pathologic examination for confirming the diagnosis of avascular necrosis (AVN). METHODS: We retrospectively reviewed consecutive nonfractured total hip arthroplasty cases (n = 1,722), comparing operative diagnoses and radiologic data with final histologic diagnoses, focusing specifically on AVN. RESULTS: Among 199 histologically confirmed cases of AVN, 62 (31%) had a preoperative diagnosis of osteoarthritis/degenerative joint disease (OA/DJD); 58 of the latter patients had radiology reports, but only two (3%) documented AVN. Patients with AVN preoperatively diagnosed as OA/DJD were significantly older (mean, 65 years) than patients with AVN correctly diagnosed clinically (mean, 52 years; P < .00001). Among 163 cases with a preoperative diagnosis of AVN, 26 (16%) were confirmed as OA/DJD; the radiology report incorrectly diagnosed AVN in 17 (65%) patients. These latter patients also were significantly older (mean, 60 years) than patients with AVN correctly diagnosed clinically (P = .0008). Patients with a preoperative clinical and/or radiologic diagnosis of AVN were more likely to be younger and have known AVN risk factors. CONCLUSIONS: Accurate and reliable diagnosis of AVN requires pathologic examination, especially among older patients without known risk factors. Prompt diagnosis may lead to behavioral changes in affected patients that reduce the risk of subsequent lesions.