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1.
Case Reports Plast Surg Hand Surg ; 11(1): 2309970, 2024.
Article in English | MEDLINE | ID: mdl-38322040

ABSTRACT

Ossifying fasciitis is a rare benign tumor of heterotopic bone formation within fascial tissue. We present a case of a 23-year-old female with a nontraumatic painful mass of the left proximal thigh identified as ossifying fasciitis, a lesion that must be considered in the differential diagnosis of soft tissue tumors.

2.
PLoS One ; 18(12): e0296252, 2023.
Article in English | MEDLINE | ID: mdl-38134047

ABSTRACT

The primary objective of our study was to determine the prevalence of cranial tibial translation on a single unstressed, standing angle, mediolateral radiograph of the stifle and the accuracy of diagnosing complete cranial cruciate ligament rupture in dogs with this finding using a previously published method. The secondary objective was to determine if there was a higher incidence of meniscal injuries associated with spontaneous radiographic cranial tibial translation as previously proposed. Medical records were reviewed for client owned dogs with cranial cruciate ligament rupture that underwent surgical stabilization with intra-operative evaluation of the stifle joint via arthrotomy between June 2013 to January 2022 and had pre-operative radiographs performed within 60 days prior to surgery. Pre-operative radiographs were evaluated for cranial tibial translation via the previously published method. Three hundred twenty-three dogs met the inclusion criteria for the study. Intra-operative findings and radiographic assessments were evaluated for correlations. Cranial tibial translation on pre-operative standing angle radiographs detected cranial cruciate ligament tears in 24.8% of cases but had a positive predictive value of 97.5% for diagnosing complete cranial cruciate ligament rupture with a specificity of 95.4% and an overall accuracy of 36.8%. Meniscal tears were present in 58.75% of cases with radiographic cranial tibial translation and 41.25% of cases without. There was no significant increase in the incidence of meniscal tears between the two groups. The presence of radiographic cranial tibial translation in dogs on an unstressed, standing angle, mediolateral radiograph of the stifle is diagnostic for cranial cruciate ligament rupture, but cannot be used to determine the presence of a meniscal tear.


Subject(s)
Anterior Cruciate Ligament Injuries , Dog Diseases , Humans , Dogs , Animals , Anterior Cruciate Ligament/diagnostic imaging , Anterior Cruciate Ligament/surgery , Menisci, Tibial/surgery , Anterior Cruciate Ligament Injuries/diagnostic imaging , Anterior Cruciate Ligament Injuries/surgery , Anterior Cruciate Ligament Injuries/veterinary , Tibia/diagnostic imaging , Tibia/surgery , Radiography , Stifle , Rupture/diagnostic imaging , Rupture/veterinary , Rupture/surgery , Dog Diseases/diagnostic imaging , Dog Diseases/surgery
3.
Am J Surg Pathol ; 47(6): 725-737, 2023 06 01.
Article in English | MEDLINE | ID: mdl-37102574

ABSTRACT

Calcified chondroid mesenchymal neoplasm is a term proposed for tumors with a spectrum of morphologic features, including cartilage/chondroid matrix formation, that frequently harbor FN1 gene fusions. We report a series of 33 cases of putative calcified chondroid mesenchymal neoplasms, mostly referred for expert consultation out of concern for malignancy. Patients included 17 males and 16 females, with a mean age of 51.3 years. Anatomic locations include the hands and fingers, feet and toes, head and neck, and temporomandibular joint; 1 patient presented with multifocal disease. Radiologic review showed soft tissue masses with variable internal calcification, which occasionally scalloped bone but in all cases appeared indolent/benign. Tumors had a mean gross size of 2.1 cm and a homogenous rubbery to fibrous/gritty tan-white cut surface. Histology demonstrated multinodular architecture with a prominent chondroid matrix and increased cellularity towards the periphery of the nodules. The tumor cells were polygonal with eccentric nuclei and bland cytologic features and showed a variable amount of increased spindled / fibroblastic forms in the perinodular septa. The majority of cases had notable grungy and/or lacy calcifications. A subset of cases demonstrated at least focal areas of increased cellularity and osteoclast-like giant cells. Herein, we confirm the distinct morphologic and clinicopathologic features associated with this entity with the largest series to date, with a focus on practical diagnostic separation from similar chondroid neoplasms. Awareness of these features is critical in avoiding pitfalls, including a malignant diagnosis of chondrosarcoma.


Subject(s)
Bone Neoplasms , Chondrosarcoma , Neoplasms, Connective and Soft Tissue , Male , Female , Humans , Middle Aged , Neoplasms, Connective and Soft Tissue/diagnostic imaging , Neoplasms, Connective and Soft Tissue/genetics , Chondrosarcoma/pathology , Cartilage/pathology , Toes/pathology , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/genetics , Bone Neoplasms/pathology
4.
J Cardiovasc Electrophysiol ; 34(2): 279-290, 2023 02.
Article in English | MEDLINE | ID: mdl-36352771

ABSTRACT

INTRODUCTION: Use of a novel magnetic sensor enabled optical contact force ablation catheter has been established to be safe and effective for treatment of symptomatic drug-refractory paroxysmal atrial fibrillation (AF) but has yet to be demonstrated in the persistent AF (PersAF) population. METHODS: PERSIST-END was a multicenter, prospective, nonrandomized, investigational study designed to demonstrate the safety and effectiveness of TactiCath™ Ablation Catheter, Sensor Enabled™(SE) (TactiCath SE) for use in the treatment of subjects with documented PersAF refractory or intolerant to at least one Class I/III AAD. The ablation strategy included pulmonary vein isolation and additional targets at physician discretion. Follow-up through 15-months, including a 3-month blanking period and 3-month therapy consolidation period, was performed with cardiac event and Holter monitoring. Primary safety, primary effectiveness, clinical success, and quality of life (QOL) endpoints were analyzed. RESULTS: Of 224 subjects enrolled at 21 investigational sites in the United States and Australia, 223 underwent ablation with the investigational catheter. The primary safety event rate was 3.1% (seven events in seven subjects). The Kaplan-Meier estimate of freedom from AF/atrial flutter/atrial tachycardia recurrence at 15-months was 61.6% and clinical success at 15 months was 89.8%. Subject QOL significantly improved following ablation as assessed via AFEQT (31.6 point increase, p < .0001) and EQ-5D-5L (10.7 point increase, p < .0001) and was met with a 53% reduction in all cause cardiovascular healthcare utilization. CONCLUSION: The sensor-enabled force-sensing catheter is safe and effective for the treatment of drug refractory recurrent symptomatic PersAF, reducing arrhythmia recurrence while improving QOL and healthcare utilization.


Subject(s)
Atrial Fibrillation , Atrial Flutter , Catheter Ablation , Pulmonary Veins , Humans , Atrial Fibrillation/diagnosis , Atrial Fibrillation/surgery , Atrial Fibrillation/drug therapy , Quality of Life , Prospective Studies , Heart Conduction System , Catheter Ablation/adverse effects , Catheter Ablation/methods , Pulmonary Veins/surgery , Treatment Outcome , Recurrence
5.
Can J Public Health ; 112(6): 988-991, 2021 12.
Article in English | MEDLINE | ID: mdl-34729717

ABSTRACT

The COVID-19 pandemic is exacerbating longstanding issues related to homelessness, including lack of affordable housing, unemployment, poverty, wealth inequality, and ongoing impacts of colonization. Homelessness is often accompanied by narratives rooted in individual blame, criminalization, and reinforcement of substance use and mental health-related stigma. Visible homelessness, in the form of encampments, is a manifestation of government policy failures that neglect to uphold the human right to housing, and demonstrate eroding investments in affordable housing, income and systemic supports. Encampments make visible that some in our community lack basic determinants of health such as food, water, sanitation, safety, and the right to self-determination. In order for public health to effectively and equitably promote health and enact commitments to social justice, we argue that public health must adopt a human rights approach to housing and to homeless encampments. Embracing a human rights perspective means public health would advocate first and foremost for adequate housing and other resources rooted in self-determination of encampment residents. In the absence of housing, public health would uphold human rights through the provision of public health resources and prohibition on evictions of encampments until adequate housing is available.


RéSUMé: La pandémie de COVID-19 exacerbe des problèmes de longue date liés au sans-abrisme, dont le manque de logements abordables, le chômage, la pauvreté, l'inégalité de richesse et les impacts continus de la colonisation. Le sans-abrisme s'accompagne souvent de discours narratifs ancrés dans le blâme personnel, la criminalisation et le renforcement de la stigmatisation de l'usage de substances et des troubles de santé mentale. Le sans-abrisme visible, qui prend la forme des campements, est un constat d'échec des politiques gouvernementales qui négligent de faire respecter le droit fondamental au logement, et il démontre l'érosion des investissements dans les logements abordables, le soutien du revenu et le soutien systémique. Les campements rendent visible le fait qu'il manque à certains membres de la collectivité les déterminants de base de la santé, comme la nourriture, l'eau, les installations sanitaires, la sécurité et le droit à l'autodétermination. Pour que la santé publique fasse efficacement et équitablement la promotion de la santé et pour qu'elle donne suite à ses engagements envers la justice sociale, nous faisons valoir qu'elle doit aborder le logement et les campements de sans-abri selon une approche fondée sur les droits humains. L'adoption d'une perspective axée sur les droits humains signifie que la santé publique doit d'abord et avant tout plaider en faveur de ressources, dont des logements adéquats, ancrées dans l'autodétermination des résidents des campements. En l'absence de logements, la santé publique devrait faire respecter les droits humains par la mise à disposition de ses ressources et par l'interdiction des expulsions des campements jusqu'à ce que des logements adéquats deviennent disponibles.


Subject(s)
COVID-19 , Ill-Housed Persons , Health Promotion , Human Rights , Humans , Pandemics , Public Health , SARS-CoV-2
6.
Vet Surg ; 50(5): 1157-1163, 2021 Jul.
Article in English | MEDLINE | ID: mdl-34028059

ABSTRACT

OBJECTIVE: To describe the treatment of persistent right aortic arch (PRAA) in dogs with combined ligamentum arteriosum (LA) transection and esophageal diverticulum resection. ANIMALS: Three client owned dogs. STUDY DESIGN: Short case series. METHODS: Medical records were reviewed for clinical signs, diagnostic procedures, surgical treatment, post-operative therapies including medications and feeding regime, outcomes, and follow-up imaging. RESULTS: Esophageal resection was performed using a thoracoabdominal (TA) stapler with suture overlay. All dogs recovered well from surgery and did not experience any peri- or post-operative complications. The last follow-up was performed between 64 and 1004 days post-operatively. In all cases, regurgitation resolved and did not recur in any dogs. No dogs required medical therapy or dietary modifications. In two cases, follow-up imaging was performed that revealed marked improvement of esophageal dilation. CONCLUSION: Resection of esophageal diverticulum secondary to PRAA utilizing a TA stapler with suture overlay was technically feasible and did not seem associated with early or late complications.


Subject(s)
Aorta, Thoracic/surgery , Aortic Diseases/veterinary , Diverticulum, Esophageal/veterinary , Dog Diseases/surgery , Vascular Ring/veterinary , Animals , Aortic Diseases/complications , Aortic Diseases/surgery , Diverticulum, Esophageal/etiology , Diverticulum, Esophageal/surgery , Dogs , Female , Ligation/methods , Ligation/veterinary , Male , Suture Techniques/veterinary , Vascular Ring/complications , Vascular Ring/surgery
7.
Int J Surg Pathol ; 29(7): 704-709, 2021 Oct.
Article in English | MEDLINE | ID: mdl-33792426

ABSTRACT

Aims. 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. Materials and methods. A total of 1958 cases of FD were reviewed, of which 131 arose in the spine/STSBHF representing 2.5% of institutional and 10% of consultation cases, respectively. Eighty-six cases had material available for review. Anatomic sites included vertebrae (n = 58, 67%), short tubular bones (n = 20, 23%), and small bones of the hands/feet (n = 8, 9%). The most common morphologic pattern of bone identified was conventional (n = 77, 90%), followed by complex/anastomosing (n = 22, 26%) and psammomatoid/cementum like (n = 22, 26%). Eighteen cases (21%) had matrix-poor areas. Hypercellular areas were identified in 6 cases, 2 cases of which showed matrix-poor areas. Osteoclast-type giant cells were noted in 9 cases and myxoid change was present in 3 cases. Radiologic imaging studies available for 41 cases nearly all demonstrated features typical of FD, but the diagnosis was not predicted due to the unexpected location. Conclusions. FD arising in the spine/STSBHF is rare and frequently results in expert consultation. A significant number of cases exhibited less commonly recognized patterns of bone formation, and stromal changes including osteoclast-type giant cells, and matrix poor areas. Furthermore, imaging features in the STSBHF are often less specific. Awareness of the morphologic spectrum at these locations coupled with radiologic correlation should aid in accurate classification.


Subject(s)
Bone and Bones/pathology , Fibrous Dysplasia of Bone/diagnosis , Adolescent , Adult , Aged , Bone and Bones/cytology , Bone and Bones/diagnostic imaging , Bone and Bones/surgery , Child , Child, Preschool , Female , Fibrous Dysplasia of Bone/pathology , Fibrous Dysplasia of Bone/surgery , Follow-Up Studies , Giant Cells/pathology , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Osteoclasts/pathology , Recurrence , Tomography, X-Ray Computed , Young Adult
8.
JACC Clin Electrophysiol ; 7(8): 1013-1021, 2021 08.
Article in English | MEDLINE | ID: mdl-33812831

ABSTRACT

OBJECTIVES: The objective of this clinical trial was to evaluate the safety and effectiveness of the TactiCath Contact Force Ablation Catheter, Sensor Enabled (TactiCath SE) (Abbott, Abbott Park, Illinois) for the treatment of drug-refractory, symptomatic paroxysmal atrial fibrillation (PAF). BACKGROUND: Catheter ablation of atrial fibrillation (AF) is an established therapy for the treatment of PAF. Ablation technology is evolving with the primary goals of improving efficacy and safety of the procedure. METHODS: This was a multicenter single-arm trial evaluating a novel ablation catheter for the treatment of PAF. A total of 156 subjects were enrolled at 19 sites in the United States, Europe, and Australia. The primary safety endpoint was the rate of device- or procedure-related serious adverse events occurring within 7 days. The primary effectiveness endpoint was acute success defined as pulmonary vein isolation at 30 min after ablation. Two descriptive endpoints were prospectively captured: 1) 1-year freedom from recurrence of symptomatic AF, atrial flutter (AFL), and atrial tachycardia (AT) lasting ≥30 s without a new or increased dose of Class I/III antiarrhythmic drugs; and 2) 1-year drug-free success defined by the absence of any recurrent AF/AFL/AT lasting ≥30 s without using Class I/III antiarrhythmic drugs. RESULTS: Primary safety events occurred in 4.7% of patients (95% confidence interval [CI]: 2.23% to 8.64%), and the procedure was acutely successful in 98.0% of patients (95% CI: 94.95% to 99.46%). According to Kaplan-Meier estimates at 1 year, 82.2% (95% CI: 74.7% to 87.6%) were free from symptomatic recurrence, and 1-year drug-free success was 68.2% (95% CI: 59.9% to 75.1%). CONCLUSIONS: The TactiCath™ Contact Force Ablation Catheter, Sensor Enabled™ is safe and effective for the treatment of paroxysmal AF.


Subject(s)
Atrial Fibrillation , Catheter Ablation , Pulmonary Veins , Atrial Fibrillation/surgery , Catheters , Humans , Pulmonary Veins/surgery , Recurrence
9.
Arch Pathol Lab Med ; 145(9): 1138-1143, 2021 09 01.
Article in English | MEDLINE | ID: mdl-33373450

ABSTRACT

CONTEXT.­: Published reports have suggested an association of lymphocytic esophagitis (LyE) with gastroesophageal reflux disease (GERD) and primary motility disorders and have also shown that GERD and motility disorders frequently overlap. These findings make it difficult to determine the true relationship between LyE and GERD, which may be confounded by the presence of motility disorders with LyE. OBJECTIVE.­: To characterize patterns of lymphocytic inflammation in patients with GERD who have no motility abnormalities. DESIGN.­: We identified 161 patients seen at our institution from 1998 to 2014 who were diagnosed with GERD, had normal esophageal motility, and available esophageal biopsies. LyE was defined as peripapillary lymphocytosis with rare or absent granulocytes. CD4 and CD8 immunophenotype of lymphocytes was evaluated using immunohistochemistry. RESULTS.­: We found increased intraepithelial lymphocytes in 13.7% of patients with GERD. Two major patterns and 1 minor pattern of lymphocytic inflammation were observed as follows: (1) LyE (in 6.8% [11 of 161] of patients and typically focal), (2) dispersed lymphocytes in an area of reflux esophagitis (in 5.6% [9 of 161] and typically diffuse), and (3) peripapillary lymphocytes in an area of reflux esophagitis (in 1.2% [2 of 161]). CD8 T cells significantly outnumbered CD4 T cells in 91% of patients with lymphocytic esophagitis and 100% of patients with dispersed lymphocytes (9 of 9) or peripapillary lymphocytes (2 of 2) in the area of reflux esophagitis. CONCLUSIONS.­: These findings suggest that LyE is one of the major patterns of lymphocytic inflammation in GERD. CD8 T-cell-predominant immunophenotype may be useful as a marker of GERD in the differential diagnosis of LyE.


Subject(s)
CD8-Positive T-Lymphocytes/immunology , Esophagitis/immunology , Esophagitis/pathology , Gastroesophageal Reflux/immunology , Gastroesophageal Reflux/pathology , Adult , Aged , Female , Humans , Inflammation/immunology , Inflammation/pathology , Male , Middle Aged
10.
Hum Pathol ; 99: 75-79, 2020 05.
Article in English | MEDLINE | ID: mdl-32217091

ABSTRACT

Fibroepithelial stromal polyps (FESPs) are benign polypoid mesenchymal lesions thought to arise from desmin-positive specialized stromal cells of the female genital tract. Although most cases are easily diagnosed by morphology alone, the morphology of FESPs is variable and in some instances can contain hypercellular stroma with numerous atypical desmin-positive cells, simulating botryoid embryonal rhabdomyosarcoma (ERMS). Recently, we encountered a cellular FESP showing desmin expression as well as nuclear immunoreactivity for the skeletal muscle-associated transcription factor MyoD1. Although these lesions are widely known to express desmin, there are very few studies examining expression of the more specific markers of skeletal muscle differentiation, myogenin and MyoD1. The aim of our study was to examine desmin, MyoD1, and myogenin expression in a series of 25 FESPs. Of the 25 cases, desmin expression was present in 23 (92%), at least focal MyoD1 expression was present in 10 (40%), and all cases were negative for myogenin. Follow-up data were available for all 25 cases, and none recurred or behaved in a malignant fashion. Awareness of this potential immunohistochemical pitfall and careful morphologic evaluation should allow for the confident distinction of MyoD1-positive FESP from botyroid ERMS in almost all instances.


Subject(s)
Biomarkers, Tumor/analysis , MyoD Protein/analysis , Neoplasms, Fibroepithelial/chemistry , Polyps/chemistry , Stromal Cells/chemistry , Vaginal Neoplasms/chemistry , Vulvar Neoplasms/chemistry , Adult , Aged , Aged, 80 and over , Diagnosis, Differential , Female , Humans , Immunohistochemistry , Middle Aged , Neoplasms, Fibroepithelial/pathology , Polyps/pathology , Predictive Value of Tests , Prognosis , Stromal Cells/pathology , Vaginal Neoplasms/pathology , Vulvar Neoplasms/pathology
11.
Int J Surg Pathol ; 28(4): 454-463, 2020 Jun.
Article in English | MEDLINE | ID: mdl-31801397

ABSTRACT

Aims. The aim of this study was to identify potential driver genetic alterations in a dedifferentiated liposarcoma (DDLPS) with rhabdomyosarcomatous differentiation. Methods and Results. A 24-year-old female underwent resection of an abdominal mass, which on a previous biopsy demonstrated rhabdomyosarcomatous differentiation concerning for embryonal rhabdomyosarcoma. Histologically the resected tumor displayed a high-grade sarcoma with rhabdomyosarcomatous differentiation in the background of well-differentiated liposarcoma consistent with DDLPS. Fluorescence in situ hybridization confirmed MDM2 amplification, as did array-based copy number profiling. Whole-exome sequencing revealed a somatic FGFR1 hotspot mutation and RNA sequencing an LMNB2-MAP2K6 fusion only within the dedifferentiated component. Conclusions. This study represents an in-depth examination of a rare DDLPS with rhabdomyosarcomatous differentiation in a young individual. Additionally, it is also instructive of a potential pitfall when assessing for MDM2 amplification in small biopsies. Despite exhaustive analysis, mutation and gene copy number analysis did not identify any molecular events that would underlie the rhabdomyoblastic differentiation. Our understanding of what causes some tumors to dedifferentiate as well as undergo divergent differentiation is limited, and larger studies are needed.


Subject(s)
Cell Dedifferentiation/genetics , Liposarcoma/diagnosis , Retroperitoneal Neoplasms/diagnosis , Retroperitoneal Space/pathology , Rhabdomyosarcoma, Embryonal/diagnosis , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Biopsy , Chemoradiotherapy, Adjuvant , Diagnosis, Differential , Fatal Outcome , Female , Gene Amplification , Humans , In Situ Hybridization, Fluorescence , Liposarcoma/genetics , Liposarcoma/pathology , Liposarcoma/therapy , Proto-Oncogene Proteins c-mdm2/genetics , Retroperitoneal Neoplasms/genetics , Retroperitoneal Neoplasms/pathology , Retroperitoneal Neoplasms/therapy , Retroperitoneal Space/surgery , Rhabdomyosarcoma, Embryonal/genetics , Rhabdomyosarcoma, Embryonal/pathology , Exome Sequencing , Young Adult
13.
Int J Surg Pathol ; 27(3): 322-327, 2019 May.
Article in English | MEDLINE | ID: mdl-30360665

ABSTRACT

Pulmonary adenofibroma (PAF) is a rare neoplasm that may be related to solitary fibrous tumor (SFT). A subset of PAFs harbor the NAB2-STAT6 fusion that is typical of SFT, but a significant proportion do not. Their distinction is clinically important as SFTs can potentially have an aggressive clinical course, while there has been no report of a PAF behaving in a malignant fashion. We report a case of a 60-year-old male who developed a SFT and PAF in the same lung. The SFT harbored a NAB2-STAT6 fusion, while the PAF did not have any identifiable fusion. This case represents the first instance of a single patient with both of these tumors occurring simultaneously in the same lung.


Subject(s)
Adenofibroma/pathology , Lung Neoplasms/pathology , Neoplasms, Multiple Primary/pathology , Solitary Fibrous Tumors/pathology , Adenofibroma/diagnostic imaging , Adenofibroma/genetics , Adenofibroma/surgery , Biomarkers, Tumor/genetics , Humans , Lung/diagnostic imaging , Lung/pathology , Lung/surgery , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/genetics , Lung Neoplasms/surgery , Male , Middle Aged , Neoplasms, Multiple Primary/diagnostic imaging , Neoplasms, Multiple Primary/genetics , Neoplasms, Multiple Primary/surgery , Oncogene Proteins, Fusion/genetics , Pneumonectomy , Repressor Proteins/genetics , STAT6 Transcription Factor/genetics , Solitary Fibrous Tumors/diagnostic imaging , Solitary Fibrous Tumors/genetics , Solitary Fibrous Tumors/surgery , Tomography, X-Ray Computed
14.
J Cutan Pathol ; 45(12): 933-939, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30175468

ABSTRACT

A subset of soft tissue sarcomas often harbors recurrent fusions involving protein kinases. While some of these fusion events have shown utility in arriving at a precise diagnosis, novel fusions in otherwise difficult to classify sarcomas continue to be identified. We present a case of a 40-year-old female who noted a lower back nodule in 2010 that was initially labeled as a dermatofibrosarcoma protuberans with fibrosarcomatous transformation. The lesion recurred the following year and metastasized to the groin 6 years later. Because of some morphologic peculiarities, molecular characterization was pursued in the metastatic focus, which revealed the neoplasm was negative for the COL1A1-PDGFB fusion. However, anchored multiplex polymerase chain reaction for targeted next-generation sequencing (Archer Dx) detected an EML4-NTRK3 fusion, which was confirmed by reverse transcription-PCR, Sanger sequencing and RNA sequencing analysis of the recurrent and metastatic specimens. Although various soft tissue neoplasms involving fusions with NTRK genes are well-reported, the current case could not be easily classified in any of the established entities. Nevertheless, it raises interesting questions regarding the importance of classification, prognosis, and treatment for some of these tyrosine kinase fusion-driven sarcomas.


Subject(s)
Cell Cycle Proteins , Dermatofibrosarcoma , Discoidin Domain Receptor 2 , Microtubule-Associated Proteins , Oncogene Proteins, Fusion , Serine Endopeptidases , Skin Neoplasms , Adult , Cell Cycle Proteins/genetics , Cell Cycle Proteins/metabolism , Dermatofibrosarcoma/genetics , Dermatofibrosarcoma/metabolism , Dermatofibrosarcoma/pathology , Discoidin Domain Receptor 2/genetics , Discoidin Domain Receptor 2/metabolism , Female , Humans , Microtubule-Associated Proteins/genetics , Microtubule-Associated Proteins/metabolism , Oncogene Proteins, Fusion/genetics , Oncogene Proteins, Fusion/metabolism , Serine Endopeptidases/genetics , Serine Endopeptidases/metabolism , Skin Neoplasms/genetics , Skin Neoplasms/metabolism , Skin Neoplasms/pathology
15.
Arch Pathol Lab Med ; 142(6): 761-766, 2018 06.
Article in English | MEDLINE | ID: mdl-29848035

ABSTRACT

Solitary fibrous tumor (SFT) is a unique mesenchymal neoplasm that was originally believed to be of submesothelial origin. Eventually, SFT expanded to include what was previously called hemangiopericytoma in other regions of the body that had similar immunohistochemical and morphologic features. Although most are benign, many studies have tried to identify histologic features that predict which tumors will behave in an aggressive manner. Recently, dedifferentiation has been described in rare cases of SFT and does appear to correlate with a more aggressive clinical course. Dedifferentiated SFT occurs in a similar age range and location as conventional SFT and can resemble multiple different malignant entities. Utilization of ancillary studies and thorough tissue sampling is important to reach the correct diagnosis. The morphologic features, immunohistochemistry, molecular alterations, and prognosis will be discussed.


Subject(s)
Hemangiopericytoma/pathology , Solitary Fibrous Tumors/pathology , Cell Dedifferentiation , Hemangiopericytoma/diagnosis , Hemangiopericytoma/genetics , Humans , Immunohistochemistry , Prognosis , Solitary Fibrous Tumors/diagnosis , Solitary Fibrous Tumors/genetics
16.
Hum Pathol ; 82: 202-205, 2018 12.
Article in English | MEDLINE | ID: mdl-29727697

ABSTRACT

Xanthomas are histiocytic lesions of the skin, soft tissue, and bone and are generally considered to be reactive in nature. When they arise in the bones of the jaw, they are referred to as central xanthomas. New evidence supports the hypothesis that central xanthomas are a separate and distinct entity from their extragnathic counterparts. Noonan syndrome (NS) is an autosomal dominant disorder that has been associated with giant cell lesions, which also commonly occur in the jaw. We present a case of a 15-year-old boy with NS who presented with a radiolucent lesion of the mandible that on excision was found to be a central xanthoma. Although giant cell lesions have been well described in NS, xanthomas of the jaw have not been reported. We will also discuss the entities that must be excluded before making a diagnosis of central xanthoma, as this can affect both treatment and follow-up.


Subject(s)
Mandibular Diseases/etiology , Noonan Syndrome/complications , Xanthomatosis/etiology , Adolescent , Biopsy , Diagnosis, Differential , Humans , Immunohistochemistry , Male , Mandibular Diseases/diagnosis , Mandibular Diseases/surgery , Noonan Syndrome/diagnosis , Predictive Value of Tests , Tomography, X-Ray Computed , Xanthomatosis/diagnosis , Xanthomatosis/surgery
19.
Arch Pathol Lab Med ; 141(12): 1728-1731, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29189062

ABSTRACT

Historically, inhibitors to coagulation factor V (FV) most often have developed in patients treated with bovine thrombin, a topical hemostatic agent used during surgical procedures. With the advent of newer hemostatic agents, and the concurrent diminished use of bovine thrombin, the incidence of FV inhibitors has fallen. Nevertheless, FV inhibitors are occasionally seen on an idiopathic basis as well as in association with medications, malignancies, autoimmune disorders, pregnancy, and infections. Factor V inhibitors may present with life-threatening bleeding or thrombosis, or they may be discovered incidentally as a coagulation screening test abnormality. Management of patients with FV inhibitors is challenging and consists of control of bleeding and eradication of the inhibitor. In this short overview we review the role of platelet and plasma FV in hemostasis and discuss the unique characteristics, clinical features, diagnosis, treatment, and prognosis associated with FV inhibitors.


Subject(s)
Factor V/antagonists & inhibitors , Animals , Autoantibodies/blood , Cattle , Diagnosis, Differential , Factor V/immunology , Female , Hemorrhage/etiology , Hemostatics/adverse effects , Humans , Pregnancy , Thrombin/adverse effects
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