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Article ; Online: Dysphagia is associated with increased mortality risk after hip fracture surgery.

Boyapati, Rohan M / Hoggard, Timothy M / Yarboro, Seth R / Hadeed, Michael M

European journal of orthopaedic surgery & traumatology : orthopedie traumatologie

2024

Abstract: Purpose: This study aims to explore the prevalence of dysphagia, as well as mortality associated with dysphagia in the elderly population receiving surgical treatment for a hip fracture.: Methods: A retrospective cohort study was completed at an ... ...

Abstract	Purpose: This study aims to explore the prevalence of dysphagia, as well as mortality associated with dysphagia in the elderly population receiving surgical treatment for a hip fracture. Methods: A retrospective cohort study was completed at an academic level 1 tertiary care center. Patients older than or equal to 65 admitted with a hip fracture diagnosis from January 2015 to December 2020 (n = 617) were included. The main outcome was the prevalence of dysphagia and association with mortality. Secondary analysis included timing of dysphagia and contributions to mortality. Results: Fifty-six percent of patients had dysphagia, and the mortality rates were higher in patients with dysphagia (8.9%) versus those without dysphagia (2.6%), chi-square p = 0.001, and odds ratio 3.69 (CI 1.6-8.5). Mortality rates in patients with acute dysphagia were also higher (12.4%) than those with chronic dysphagia (5%) and chi-squared p = 0.02. Mortality rates in patients with a perioperative dysphagic event (13.9%) were higher than those with non-perioperative dysphagia (4%) and chi-squared p = 0.001. Mortality rates in patients who had acute perioperative dysphagia (21.2%) were higher than those with chronic dysphagia that presented perioperatively (6.8%) and chi-squared p = 0.006. Conclusions: This study demonstrates high rates of dysphagia in the elderly hip fracture population and a significant association between dysphagia and mortality. Timing and chronicity of dysphagia were relevant, as patients with acute perioperative dysphagia had the highest mortality rate. Unlike other identified risk factors, dysphagia may be at least partially modifiable. More research is needed to determine whether formal evaluation and treatment of dysphagia lowers mortality risk.
Language	English
Publishing date	2024-04-08
Publishing country	France
Document type	Journal Article
ZDB-ID	1231084-0
ISSN	1432-1068 ; 1633-8065 ; 0948-4817 ; 0940-3264
ISSN (online)	1432-1068
ISSN	1633-8065 ; 0948-4817 ; 0940-3264
DOI	10.1007/s00590-024-03918-6
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Article ; Online: Osteoporosis management in the United States.

Hoggard, Timothy M / Jeray, Kyle J

OTA international : the open access journal of orthopaedic trauma

2022 Volume 5, Issue 3 Suppl, Page(s) e184

Abstract: There are numerous organizational osteoporosis initiatives in the United States offering a variety of recommendations and guidelines. A common method of implementing these goals is centered around multidisciplinary provider teams with the broad task of ... ...

Abstract	There are numerous organizational osteoporosis initiatives in the United States offering a variety of recommendations and guidelines. A common method of implementing these goals is centered around multidisciplinary provider teams with the broad task of diagnosis, treatment, and prevention of current and future osteoporosis related fractures. These teams have generally proved to be successful even though it remains debated, which specific provider specialty is ultimately responsible for osteoporosis care. The current United States healthcare infrastructure represents the significant obstacle in widespread adoption of successful treatment programs. The development of further quality standards and incorporation of fracture liaison services into reimbursement and funding models will allow for continued improvement in osteoporosis care.
Language	English
Publishing date	2022-06-09
Publishing country	United States
Document type	Journal Article
ISSN	2574-2167
ISSN (online)	2574-2167
DOI	10.1097/OI9.0000000000000184
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Article ; Online: The Use of the Piriformis Fossa Radiographic Landmark to Predict "In-Out-In" Placement of the Posterosuperior Femoral Neck Screw.

Kuttner, Nicolas P / Hoggard, Timothy M / Cancio-Bello, Alexandra M / Hidden, Krystin A / Yuan, Brandon J / Adams, John D

Journal of orthopaedic trauma

2023 Volume 37, Issue 7, Page(s) 330–333

Abstract: Objectives: To investigate the correlation between a screw's radiographic relationship to the piriformis fossa with position on CT in the clinical setting.: Methods: Intraoperative fluoroscopic images of patients treated with cannulated screw ... ...

Abstract	Objectives: To investigate the correlation between a screw's radiographic relationship to the piriformis fossa with position on CT in the clinical setting. Methods: Intraoperative fluoroscopic images of patients treated with cannulated screw fixation of a femoral neck fracture, who also had a postoperative CT scan, were retrospectively evaluated by 4 fellowship-trained orthopaedic trauma surgeons. The posterosuperior screw on the AP fluoroscopic view was determined to be above the piriformis fossa (APF) or below the piriformis fossa (BPF). Using CT scan to determine IOI placement, the ability to predict IOI position based on fluoroscopic imaging was evaluated by calculating accuracy, sensitivity, specificity, and interobserver reliability. Results: 73 patients met inclusion criteria. The incidence of IOI screw placement was 59% on CT evaluation. The use of the PF landmark accurately predicted CT findings in 89% of patients. A screw placed APF was 90% sensitive and 88% specific in predicting cortical breach, with near-perfect interobserver agreement (κ = 0.81). Conclusion: The use of the PF radiographic landmark is highly sensitive and specific in predicting the placement of an IOI posterosuperior femoral neck screw. Level of evidence: Diagnostic Level II. See Instructions for Authors for a complete description of levels of evidence.
MeSH term(s)	Humans ; Femur Neck/diagnostic imaging ; Femur Neck/surgery ; Retrospective Studies ; Reproducibility of Results ; Bone Screws ; Fluoroscopy/methods ; Femoral Neck Fractures/diagnostic imaging ; Femoral Neck Fractures/surgery ; Fracture Fixation, Internal/methods
Language	English
Publishing date	2023-02-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	639099-7
ISSN	1531-2291 ; 0890-5339
ISSN (online)	1531-2291
ISSN	0890-5339
DOI	10.1097/BOT.0000000000002580
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Zs.A 2234: Show issues

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Article ; Online: Institutional performance and validation of severity of illness score for children with acute hematogenous osteomyelitis.

Kothari, Ezan A / Hoggard, Jason J / Torrez, Timothy W / Padgett, Anthony M / McGwin, Gerald / Conklin, Michael J / Gilbert, Shawn R

Journal of pediatric orthopedics. Part B

2023 Volume 32, Issue 5, Page(s) 470–475

Abstract: A scoring system has recently been published that uses parameters within the first 4-5 days of hospitalization to determine the severity of illness (SOI) in children with acute hematogenous osteomyelitis (AHO). To our knowledge, no additional studies to ... ...

Abstract	A scoring system has recently been published that uses parameters within the first 4-5 days of hospitalization to determine the severity of illness (SOI) in children with acute hematogenous osteomyelitis (AHO). To our knowledge, no additional studies to date have examined the validity of the SOI score outside of the institution of origin. This study evaluates the performance of the SOI score in a retrospective cohort of cases at our institution. Patients admitted to our institution over the past 5 years with AHO who met inclusion and exclusion criteria were analyzed. Parameters including C reactive protein over the first 96 h of hospitalization, febrile days on antibiotics, ICU admission, and presence of disseminated disease were used to calculate the SOI score for each patient. Pearson and Spearman correlations were used when appropriate. SOI score comparison between groups was achieved with the Kruskal-Wallis and Wilcoxon two-sample tests. Seventy-four patients were analyzed. Significantly higher SOI scores were noted for patients with bacteremia, ICU admission, fever for two or more days on presentation, multiple surgeries, and any complication. Markers of disease severity that significantly correlated with SOI score were total length of stay, LOS, duration of antibiotic course, number of surgical procedures, and case mix index. The SOI score functioned well as higher scores were associated with sicker patients. The SOI score is helpful for determining which patients will require longer hospitalizations and more intense treatment in a setting other than the institution of origin.
MeSH term(s)	Humans ; Child ; Retrospective Studies ; Hospitalization ; Severity of Illness Index ; Patient Acuity ; Osteomyelitis/diagnosis ; Osteomyelitis/drug therapy ; Acute Disease ; Anti-Bacterial Agents/therapeutic use ; Fever
Chemical Substances	Anti-Bacterial Agents
Language	English
Publishing date	2023-02-09
Publishing country	United States
Document type	Journal Article
ISSN	1473-5865
ISSN (online)	1473-5865
DOI	10.1097/BPB.0000000000001051
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Article ; Online: Outcomes Following Total Hip Arthroplasty for Osteonecrosis of the Femoral Head in Patients on Hemodialysis.

Hoggard, Timothy M / Chen, Dennis Q / Quinlan, Nicole D / Bell, Joshua E / Werner, Brian C / Cui, Quanjun

The Journal of bone and joint surgery. American volume

2022 Volume 104, Issue Suppl 2, Page(s) 90–94

Abstract: Background: Osteonecrosis of the femoral head (ONFH) is a potentially debilitating condition, often requiring total hip arthroplasty (THA). Patients on hemodialysis (HD) are at increased risk for complications after THA for osteoarthritis, however there ...

Abstract	Background: Osteonecrosis of the femoral head (ONFH) is a potentially debilitating condition, often requiring total hip arthroplasty (THA). Patients on hemodialysis (HD) are at increased risk for complications after THA for osteoarthritis, however there is limited information on outcomes of THA for ONFH in patients on HD. With increasing prevalence of chronic kidney disease (CKD) requiring HD, studies are needed to characterize the risk of complications in these patients. Therefore, the purpose of this study was to evaluate HD as a potential risk factor for complication after THA in patients with ONFH on HD. Methods: Patients on HD with ONFH who underwent THA with at least 2 years of follow-up were identified using a combination of ICD-9 and CPT codes in a national insurance database. A 10:1 matched control cohort of patients with ONFH not on HD was created for comparison. A logistic regression analysis was used to evaluate rates of death, hospital readmission, emergency room (ER) visit, infection, revision, and dislocation between cohorts. Differences in hospital charges, reimbursement, and length of stay between the two groups were also assessed. Results: One thousand one hundred thirty-seven patients on HD who underwent THA for ONFH were compared to a matched control cohort of 11,182 non-HD patients who underwent THA for ONFH. Patients on HD experienced higher rates of death (HD 4.1%, non-HD 0.9%; odds ratio [OR] 3.35, p < 0.01), hospital readmission (HD 16.1%, non-HD 5.9%; OR 2.69, p < 0.01) and ER visit (HD 10.4%, non-HD 7.4% OR 1.5, p < 0.01). Hemodialysis was not associated with higher risk of infection, revision, or dislocation, but was associated with significantly higher charges (p < 0.01), reimbursement (p < 0.01), and hospital length of stay (p < 0.01). Conclusions: While patients on HD do not have increased risk of implant-related complications, they are at increased risk of developing medical complications following THA for ONFH and subsequently may require more resources. Orthopedic surgeons and nephrologists should be cognizant of the increased risk in this population to provide appropriate preoperative counseling and enhanced perioperative medical management. Level of evidence: Therapeutic Level III.
MeSH term(s)	Arthroplasty, Replacement, Hip/adverse effects ; Femur Head/surgery ; Femur Head Necrosis/etiology ; Femur Head Necrosis/surgery ; Humans ; Postoperative Complications/epidemiology ; Postoperative Complications/etiology ; Postoperative Complications/surgery ; Renal Dialysis/adverse effects ; Retrospective Studies ; Risk Factors ; Treatment Outcome
Language	English
Publishing date	2022-04-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	220625-0
ISSN	1535-1386 ; 0021-9355
ISSN (online)	1535-1386
ISSN	0021-9355
DOI	10.2106/JBJS.20.00352
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Article ; Online: Sir2 mitigates an intrinsic imbalance in origin licensing efficiency between early- and late-replicating euchromatin.

Hoggard, Timothy / Müller, Carolin A / Nieduszynski, Conrad A / Weinreich, Michael / Fox, Catherine A

Proceedings of the National Academy of Sciences of the United States of America

2020 Volume 117, Issue 25, Page(s) 14314–14321

Abstract: A eukaryotic chromosome relies on the function of multiple spatially distributed DNA replication origins for its stable inheritance. The spatial location of an origin is determined by the chromosomal position of an MCM complex, the inactive form of the ... ...

Abstract	A eukaryotic chromosome relies on the function of multiple spatially distributed DNA replication origins for its stable inheritance. The spatial location of an origin is determined by the chromosomal position of an MCM complex, the inactive form of the DNA replicative helicase that is assembled onto DNA in G1-phase (also known as origin licensing). While the biochemistry of origin licensing is understood, the mechanisms that promote an adequate spatial distribution of MCM complexes across chromosomes are not. We have elucidated a role for the Sir2 histone deacetylase in establishing the normal distribution of MCM complexes across
MeSH term(s)	Cell Cycle Proteins/metabolism ; Chromosomal Proteins, Non-Histone ; Chromosomes ; DNA Helicases ; DNA Replication ; Euchromatin/metabolism ; Heterochromatin ; Replication Origin/genetics ; Saccharomyces cerevisiae/metabolism ; Saccharomyces cerevisiae Proteins/metabolism ; Silent Information Regulator Proteins, Saccharomyces cerevisiae/metabolism ; Sirtuin 2/metabolism
Chemical Substances	Cell Cycle Proteins ; Chromosomal Proteins, Non-Histone ; Euchromatin ; Heterochromatin ; Saccharomyces cerevisiae Proteins ; Silent Information Regulator Proteins, Saccharomyces cerevisiae ; SIR2 protein, S cerevisiae (EC 3.5.1.-) ; Sirtuin 2 (EC 3.5.1.-) ; DNA Helicases (EC 3.6.4.-)
Language	English
Publishing date	2020-06-08
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
DOI	10.1073/pnas.2004664117
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Article: The effect of residency training on arthroscopic knot tying and knot stability: which knot is best tied by Orthopaedic surgery residents?

Cronin, Kevin J / Cox, Jacob L / Hoggard, Timothy M / Marberry, Scott T / Santoni, Brandon G / Nofsinger, Charles C

Journal of experimental orthopaedics

2018 Volume 5, Issue 1, Page(s) 19

Abstract: Background: The aim of this study is to evaluate which of three arthroscopic knots are most reliably taught to and executed by residents at varying levels of training.: Methods: Three arthroscopic knots, the Samsung Medical Center (SMC), the Weston, ... ...

Abstract	Background: The aim of this study is to evaluate which of three arthroscopic knots are most reliably taught to and executed by residents at varying levels of training. Methods: Three arthroscopic knots, the Samsung Medical Center (SMC), the Weston, and the surgeon's knot, were taught to 16 orthopaedic surgery residents. Each knot was tied in triplicate at two sessions 1 week apart. The knots were then biomechanically tested for strength. Corresponding knots tied by a sports medicine fellow served as the respective controls. Results: Comparing all knots regardless of year of training, the SMC knot failed at significantly higher loads (237.2 ± 66.6 N) than the surgeon's knot (203.7 ± 45.3 N, p = 0.049) and the Weston knot (193.5 ± 56.1 N, p = 0.013). No significant differences in knot strength were found when comparing knots tied by residents at different levels of training and when comparing residents to the sports medicine fellow. There was no difference in conditioning elongation between surgeon's (p = 0.343), Weston (p = 0.486), or SMC knots (p = 0.200) tied by post-graduate year one and five residents. Conclusions: We report the first study that evaluates the loop strength of an arthroscopically tied knot performed by orthopaedic surgery residents in various levels of training. In our cohort, the SMC knot required a higher load to failure, when compared to the Surgeon's and Weston knot, after a simple arthroscopic knot tying curriculum. Based on these findings, he SMC knot should be considered as a part of future orthopaedic surgery resident arthroscopic training programs.
Language	English
Publishing date	2018-06-15
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2780021-0
ISSN	2197-1153
ISSN	2197-1153
DOI	10.1186/s40634-018-0138-4
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Article ; Online: MET exon 14 skipping mutation is a hepatocyte growth factor (HGF)-dependent oncogenic driver in vitro and in humanised HGF knock-in mice.

Fernandes, Marie / Hoggard, Brynna / Jamme, Philippe / Paget, Sonia / Truong, Marie-José / Grégoire, Valérie / Vinchent, Audrey / Descarpentries, Clotilde / Morabito, Angela / Stanislovas, Justas / Farage, Enoir / Meneboo, Jean-Pascal / Sebda, Shéhérazade / Bouchekioua-Bouzaghou, Katia / Nollet, Marie / Humez, Sarah / Perera, Timothy / Fromme, Paul / Grumolato, Luca /

Figeac, Martin / Copin, Marie-Christine / Tulasne, David / Cortot, Alexis B / Kermorgant, Stéphanie / Kherrouche, Zoulika

Molecular oncology

2023 Volume 17, Issue 11, Page(s) 2257–2274

Abstract: Exon skipping mutations of the MET receptor tyrosine kinase (METex14), increasingly reported in cancers, occur in 3-4% of non-small-cell lung cancer (NSCLC). Only 50% of patients have a beneficial response to treatment with MET-tyrosine kinase inhibitors ...

Abstract	Exon skipping mutations of the MET receptor tyrosine kinase (METex14), increasingly reported in cancers, occur in 3-4% of non-small-cell lung cancer (NSCLC). Only 50% of patients have a beneficial response to treatment with MET-tyrosine kinase inhibitors (TKIs), underlying the need to understand the mechanism of METex14 oncogenicity and sensitivity to TKIs. Whether METex14 is a driver mutation and whether it requires hepatocyte growth factor (HGF) for its oncogenicity in a range of in vitro functions and in vivo has not been fully elucidated from previous preclinical models. Using CRISPR/Cas9, we developed a METex14/WT isogenic model in nontransformed human lung cells and report that the METex14 single alteration was sufficient to drive MET-dependent in vitro anchorage-independent survival and motility and in vivo tumorigenesis, sensitising tumours to MET-TKIs. However, we also show that human HGF (hHGF) is required, as demonstrated in vivo using a humanised HGF knock-in strain of mice and further detected in tumour cells of METex14 NSCLC patient samples. Our results also suggest that METex14 oncogenicity is not a consequence of an escape from degradation in our cell model. Thus, we developed a valuable model for preclinical studies and present results that have potential clinical implication.
MeSH term(s)	Humans ; Carcinoma, Non-Small-Cell Lung/pathology ; Exons ; Hepatocyte Growth Factor/genetics ; Hepatocyte Growth Factor/metabolism ; Lung Neoplasms/pathology ; Mutation/genetics ; Protein Kinase Inhibitors/pharmacology ; Proto-Oncogene Proteins c-met/metabolism ; Animals ; Mice
Chemical Substances	Hepatocyte Growth Factor (67256-21-7) ; HGF protein, human ; Protein Kinase Inhibitors ; Proto-Oncogene Proteins c-met (EC 2.7.10.1) ; HGF protein, mouse
Language	English
Publishing date	2023-07-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	2415106-3
ISSN	1878-0261 ; 1574-7891
ISSN (online)	1878-0261
ISSN	1574-7891
DOI	10.1002/1878-0261.13397
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Article ; Online: Yeast heterochromatin regulators Sir2 and Sir3 act directly at euchromatic DNA replication origins.

Hoggard, Timothy A / Chang, FuJung / Perry, Kelsey Rae / Subramanian, Sandya / Kenworthy, Jessica / Chueng, Julie / Shor, Erika / Hyland, Edel M / Boeke, Jef D / Weinreich, Michael / Fox, Catherine A

PLoS genetics

2018 Volume 14, Issue 5, Page(s) e1007418

Abstract: Most active DNA replication origins are found within euchromatin, while origins within heterochromatin are often inactive or inhibited. In yeast, origin activity within heterochromatin is negatively controlled by the histone H4K16 deacetylase, Sir2, and ... ...

Abstract	Most active DNA replication origins are found within euchromatin, while origins within heterochromatin are often inactive or inhibited. In yeast, origin activity within heterochromatin is negatively controlled by the histone H4K16 deacetylase, Sir2, and at some heterochromatic loci also by the nucleosome binding protein, Sir3. The prevailing view has been that direct functions of Sir2 and Sir3 are confined to heterochromatin. However, growth defects in yeast mutants compromised for loading the MCM helicase, such as cdc6-4, are suppressed by deletion of either SIR2 or SIR3. While these and other observations indicate that SIR2,3 can have a negative impact on at least some euchromatic origins, the genomic scale of this effect was unknown. It was also unknown whether this suppression resulted from direct functions of Sir2,3 within euchromatin, or was an indirect effect of their previously established roles within heterochromatin. Using MCM ChIP-Seq, we show that a SIR2 deletion rescued MCM complex loading at ~80% of euchromatic origins in cdc6-4 cells. Therefore, Sir2 exhibited a pervasive effect at the majority of euchromatic origins. Using MNase-H4K16ac ChIP-Seq, we show that origin-adjacent nucleosomes were depleted for H4K16 acetylation in a SIR2-dependent manner in wild type (i.e. CDC6) cells. In addition, we present evidence that both Sir2 and Sir3 bound to nucleosomes adjacent to euchromatic origins. The relative levels of each of these molecular hallmarks of yeast heterochromatin-SIR2-dependent H4K16 hypoacetylation, Sir2, and Sir3 -correlated with how strongly a SIR2 deletion suppressed the MCM loading defect in cdc6-4 cells. Finally, a screen for histone H3 and H4 mutants that could suppress the cdc6-4 growth defect identified amino acids that map to a surface of the nucleosome important for Sir3 binding. We conclude that heterochromatin proteins directly modify the local chromatin environment of euchromatic DNA replication origins.
MeSH term(s)	Acetylation ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism ; Chromatin Immunoprecipitation ; DNA Copy Number Variations ; DNA Replication ; DNA, Fungal/genetics ; DNA, Fungal/metabolism ; DNA, Ribosomal/genetics ; DNA, Ribosomal/metabolism ; Euchromatin/metabolism ; F-Box Proteins/genetics ; F-Box Proteins/metabolism ; Gene Expression Regulation, Fungal ; Heterochromatin/metabolism ; High-Throughput Nucleotide Sequencing ; Histones/genetics ; Histones/metabolism ; Minichromosome Maintenance Proteins/metabolism ; Mutagenesis, Site-Directed ; Nucleosomes/genetics ; Nucleosomes/metabolism ; Replication Origin ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/metabolism ; Silent Information Regulator Proteins, Saccharomyces cerevisiae/genetics ; Silent Information Regulator Proteins, Saccharomyces cerevisiae/metabolism ; Sirtuin 2/genetics ; Sirtuin 2/metabolism ; Ubiquitin-Protein Ligases/genetics ; Ubiquitin-Protein Ligases/metabolism
Chemical Substances	CDC4 protein, S cerevisiae ; CDC6 protein, S cerevisiae ; Cell Cycle Proteins ; DNA, Fungal ; DNA, Ribosomal ; Euchromatin ; F-Box Proteins ; Heterochromatin ; Histones ; Nucleosomes ; SIR3 protein, S cerevisiae ; Saccharomyces cerevisiae Proteins ; Silent Information Regulator Proteins, Saccharomyces cerevisiae ; Ubiquitin-Protein Ligases (EC 2.3.2.27) ; SIR2 protein, S cerevisiae (EC 3.5.1.-) ; Sirtuin 2 (EC 3.5.1.-) ; Minichromosome Maintenance Proteins (EC 3.6.4.12)
Language	English
Publishing date	2018
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2186725-2
ISSN	1553-7404 ; 1553-7390
ISSN (online)	1553-7404
ISSN	1553-7390
DOI	10.1371/journal.pgen.1007418
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Article ; Online: Myoepithelial carcinoma with RB1 mutation: remarkable chemosensitivity to carcinoma of unknown origin therapy.

Hoggard, Timothy M / Henderson-Jackson, Evita / Bui, Marilyn M / Caracciolo, Jamie / Teer, Jamie K / Yoder, Sean / Binitie, Odion / Gonzalez, Ricardo J / Brohl, Andrew S / Reed, Damon R

BMC cancer

2017 Volume 17, Issue 1, Page(s) 250

Abstract: Background: Myoepithelial carcinoma of soft tissue is a rare, malignant neoplasm that is morphologically and immunophenotypically similar to its counterpart in salivary gland. It demonstrates myoepithelial differentiation, possessing both epithelial and ...

Abstract	Background: Myoepithelial carcinoma of soft tissue is a rare, malignant neoplasm that is morphologically and immunophenotypically similar to its counterpart in salivary gland. It demonstrates myoepithelial differentiation, possessing both epithelial and myogenic characteristics. Thought to be chemotherapy insensitive, the optimal treatment regimen of this tumor has yet to be established and only a select few cases in the literature discuss treatment efficacy in detail. Case presentation: Here we present a case of a young adult with metastatic myoepithelial carcinoma with an initial excellent response to systemic therapy utilizing carboplatin and paclitaxel with continued complete response after 3 years. The patient also underwent complete surgical excision and received adjuvant radiation to the primary site of disease. Exome sequencing revealed an inactivating mutation in RB1 which we believe to be the first such mutation to be reported in this cancer type. Conclusions: Given increasing evidence suggesting RB1 loss is associated with responsiveness to conventional chemotherapies, particularly platinum-based regimens, we hypothesize that this genetic feature predisposed chemosensitivity in our patient's tumor.
Language	English
Publishing date	2017-04-08
Publishing country	England
Document type	Journal Article
ISSN	1471-2407
ISSN (online)	1471-2407
DOI	10.1186/s12885-017-3249-x
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