scholarly journals The clinical impact of molecular techniques on diagnostic pathology of soft tissue and bone tumours

2012 ◽  
Vol 18 (2) ◽  
pp. 81-85
Author(s):  
Salvatore Romeo ◽  
Angelo P. Dei Tos ◽  
Pancras C.W. Hogendoorn
Keyword(s):  
Soft Tissue ◽  
Clinical Impact ◽  
Molecular Techniques ◽  
Bone Tumours ◽  
Diagnostic Pathology

scholarly journals Translating Molecular Profiling of Soft Tissue Sarcomas into Daily Clinical Practice

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 512
Author(s):  
Celine Jacobs ◽  
Lore Lapeire
Keyword(s):  
Soft Tissue ◽  
Unmet Need ◽  
Soft Tissue Sarcomas ◽  
Molecular Profiling ◽  
Point Of View ◽  
Molecular Techniques ◽  
Mesenchymal Tumors ◽  
The Past ◽  
Cancer Types ◽  
Sarcoma Treatment

Soft tissue sarcomas are a group of rare mesenchymal tumors with more than 70 subtypes described. Treatment of these subtypes in an advanced setting is mainly according to a one-size-fits-all strategy indicating a high unmet need of new and more targeted therapeutic options in order to optimize survival. The introduction of advanced molecular techniques in cancer has led to better diagnostics and identification of new therapeutic targets, leading to more personalized treatment and improved prognosis for several cancer types. In sarcoma, a likewise evolution is seen, albeit at a slower pace. This manuscript describes how in the past years advanced molecular profiling in soft tissue sarcomas was able to identify specific and often pathognomonic aberrations, deferring standard sarcoma treatment in favor of more targeted treatment from an oncologist’s point of view.

scholarly journals DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC) Alterations

2020 ◽  
Vol 21 (5) ◽  
pp. 1818 ◽  
Author(s):  
Evelina Miele ◽  
Rita De Vito ◽  
Andrea Ciolfi ◽  
Lucia Pedace ◽  
Ida Russo ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Soft Tissue ◽  
Abdominal Wall ◽  
Current Knowledge ◽  
Soft Tissue Sarcomas ◽  
Molecular Techniques ◽  
Round Cell ◽  
Undifferentiated Sarcoma ◽  
Dna Methylation Profiling ◽  
Methylation Profiling

Undifferentiated soft tissue sarcomas are a group of diagnostically challenging tumors in the pediatric population. Molecular techniques are instrumental for the categorization and differential diagnosis of these tumors. A subgroup of recently identified soft tissue sarcomas with undifferentiated round cell morphology was characterized by Capicua transcriptional receptor (CIC) rearrangements. Recently, an array-based DNA methylation analysis of undifferentiated tumors with small blue round cell histology was shown to provide a highly robust and reproducible approach for precisely classifying this diagnostically challenging group of tumors. We describe the case of an undifferentiated sarcoma of the abdominal wall in a 12-year-old girl. The patient presented with a voluminous mass of the abdominal wall, and multiple micro-nodules in the right lung. The tumor was unclassifiable with current immunohistochemical and molecular approaches. However, DNA methylation profiling allowed us to classify this neoplasia as small blue round cell tumor with CIC alterations. The patient was treated with neoadjuvant chemotherapy followed by complete surgical resection and adjuvant chemotherapy. After 22 months, the patient is disease-free and in good clinical condition. To put our experience in context, we conducted a literature review, analyzing current knowledge and state-of-the-art diagnosis, prognosis, and clinical management of CIC rearranged sarcomas. Our findings further support the use of DNA methylation profiling as an important tool to improve diagnosis of non-Ewing small round cell tumors.

scholarly journals 1358. A Novel Rapidly Growing Mycobacteria (RGM) Species Causing Soft Tissue and Orthopedic Hardware Infection After Trauma

2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S492-S492
Author(s):  
David C Nguyen ◽  
Michelle Lisgaris ◽  
Sruthi Vasireddy ◽  
Richard J Wallace ◽  
Federico Perez ◽  
...  
Keyword(s):  
Soft Tissue ◽  
16S Rrna ◽  
Antibiotic Susceptibility ◽  
Molecular Techniques ◽  
16S Rrna Genes ◽  
Rrna Genes ◽  
Rrna Gene ◽  
Mycobacterium Fortuitum ◽  
Rapidly Growing Mycobacteria ◽  
Maldi Tof

Abstract Background The widespread use of molecular techniques has resulted in increasing numbers of newly characterized rapidly growing mycobacteria (RGM). Many RGM cause soft tissue and orthopedic hardware infection, particularly after trauma. RGM species identification remains challenging with few genetic differences between species. Methods We describe a case involving RGM. We report results of matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry (Bruker Biotyper), sequencing of rpoB, erm(39), and 16S rRNA genes, and antibiotic susceptibility testing (AST). We review previous reports describing similar RGM infections. Results A 58-year-old male sustained multiple fractures and right thigh compartment syndrome after a motorcycle accident. He underwent fasciotomy and multi-stage surgical fixations. 3 months later, he had wound dehiscence, purulence and multiple fluid collections of his right leg and knee requiring surgical drainage and removal of orthopedic hardware. After 4 days, acid-fast bacilli grew on routine bacterial culture media. MALDI-TOF identified the isolate as Mycobacterium mageritense. In contrast, sequencing of 16S rRNA (100% identity) and erm(39) (> 99% identity) identified the isolate as Mycobacterium houstonense; erm(39) only had 80% similarity with Mycobacterium fortuitum. Sequencing of rpoB showed a 19 bp difference with the M. houstonense type strain, and showed similarity to M. fortuitum (97.64%) than M. houstonense (97.45%). AST demonstrated resistance to clarithromycin only. After initial treatment with imipenem, ciprofloxacin, and doxycycline, definite therapy with ciprofloxacin and doxycycline was successful. In the literature, we found one case each of M. mageritense and M. houstonense infection after trauma. Conclusion This case highlights the importance of RGM other than M. fortuitum as a cause of soft tissue and orthopedic hardware infections, and illustrates the difficulty of identifying them to the species level. Sequencing of erm(39) and 16S rRNA gene identified the isolate as M. houstonense, but the larger difference (>2.5%) in rpoB sequence suggests a novel species. Further characterization is underway. Efforts to determine RGM species and antibiotic susceptibility give important insight into diagnosis and management. Disclosures All authors: No reported disclosures.

scholarly journals Case–control study of paternal occupational exposures and childhood bone tumours and soft-tissue sarcomas in Great Britain, 1962–2010

2020 ◽  
Vol 122 (8) ◽  
pp. 1250-1259
Author(s):  
Gerald M. Kendall ◽  
Kathryn J. Bunch ◽  
Charles A. Stiller ◽  
Timothy J. Vincent ◽  
Michael F. G. Murphy
Keyword(s):  
Great Britain ◽  
Soft Tissue ◽  
Case Control Study ◽  
Soft Tissue Sarcomas ◽  
Occupational Exposures ◽  
Case Control ◽  
Bone Tumours ◽  
Control Study

The clinical impact of bone scan (BS) flare with enzalutamide (ENZA) in men with metastatic castration-resistant prostate cancer (mCRPC).

2019 ◽  
Vol 37 (7_suppl) ◽  
pp. 183-183
Author(s):  
Andrew J. Armstrong ◽  
Mohammed Al-Adhami ◽  
Ping Lin ◽  
Teresa Parli ◽  
Jennifer Sugg ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Clinical Impact ◽  
Adverse Outcomes ◽  
Bone Lesions ◽  
Castration Resistant Prostate Cancer ◽  
Two Phase ◽  
Castration Resistant ◽  
Slow Progression ◽  
Tissue Responses

183 Background: Current PCWG3 guidelines for men with mCRPC define BS progression during therapy as requiring confirmation of new bone lesions that develop over time with additional new lesions. New unconfirmed BS lesions may reflect slow progression or a favorable osteoblastic reaction called a “BS flare” that can be misinterpreted as radiographic progression and lead to premature therapy discontinuation. The prevalence and clinical impact of BS flare is unknown for ENZA. Methods: We analyzed the association of BS flare with clinical outcomes and quality of life (QoL) in a retrospective analysis of two phase 3 trials of men with mCRPC treated with ENZA after (AFFIRM n = 1199) and before (PREVAIL n = 1717) docetaxel. Early and late BS flare was defined as new lesions on the first posttreatment BS (weeks 9-13) or subsequent BS, respectively, that were not confirmed to meet progression criteria on the next BS, while also requiring responding/stable PSA and soft-tissue disease. Results: Unconfirmed BS lesions were observed in 22% and 25% of stable/responding men receiving ENZA in AFFIRM and PREVAIL, respectively. Most BS flares were early, but late flares (week 17 or later) were seen in 2% and 13% of men, respectively. Unconfirmed BS lesions (early or late) had no impact on OS (HR 0.87; 95% CI 0.62-1.21) or rPFS (HR 0.91; 95% CI 0.58-1.44) in PREVAIL, but were associated with worse OS (HR 2.26; 95% CI 1.55-3.30) and rPFS (HR 1.73; 95% CI 1.33-2.26) in AFFIRM. Soft-tissue responses and PSA declines were more prominent in chemo-naïve men with unconfirmed BS lesions, which also had no impact on QoL or pain deterioration in either setting. Conclusions: BS flare occurred in ≈25% of responding men with mCRPC receiving ENZA and was not associated with adverse outcomes in chemo-naïve men. Our findings support the importance of avoiding premature treatment discontinuation in the presence of unconfirmed new BS lesions in the first 4 months of therapy. Worse outcomes associated with unconfirmed lesions in men post docetaxel illustrate the need for improved functional bone imaging in mCRPC and broader patient assessment to decide on treatment continuation. Clinical trial information: NCT00974311; NCT01212991.

Sarcomas of soft tissue and bone

2013 ◽  
Author(s):  
Anna Cassoni
Keyword(s):  
Soft Tissue ◽  
Bone Tumours ◽  
Paediatric Tumours

Chapter 14 discusses both soft tissue and bone tumours except for rhabdomyosarcomas which will be covered within paediatric tumours (Chapter 15).

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