Two rare presentations and treatments of Ewing's sarcoma: A need for a standard treatment approach.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e21000-e21000
Author(s):  
Kanyalakshmi Ayyanar ◽  
Nitya Narayan ◽  
Karen Moeller ◽  
William Gump ◽  
Thomas Moriarty ◽  
...  
Keyword(s):  
Local Control ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Residual Disease ◽  
Standard Of Care ◽  
Diagnostic Techniques ◽  
Salvage Chemotherapy ◽  
Molecular Diagnostic ◽  
Molecular Diagnostic Techniques ◽  
Mri Scans

e21000 Background: We describe two Caucasian boys with rare presentations of non-metastatic Ewings sarcoma (ES) with atypical primary sites. One was extradural but FISH negative for 22q11.2. Another was intradural but extramedullary, and FISH positive. Literature search showed few publications which describe such cases, and there is currently no standard of care. Methods: MG, an 11 year old male, presented with a frontal skull mass, with an intracranial epidural extension of about 5 mm. Biopsy confirmed ES. MG was treated with Vincristine, Doxorubicin, and Cyclophosphamide, alternating with Ifosfamide and Etoposide every 2 weeks, for 6 weeks. He underwent tumor excision for local control with good response. Chemotherapy continued, completing 14 cycles total. He is in remission 15 months after completion. AH, a 13 year old male, presented with lower back pain and paraesthesias of feet. MRI revealed an intradural, extra-medullary L1-L3 mass. Intra-operatively, all visible tumor peeled off readily, except for the L2 nerve root. The tumor was FISH positive for EWSR1. He was treated with the same regimen as MG for 6 cycles. Local control was done with radiation. He then continued chemotherapy, completing a total of 14 cycles. MRI scans 3 months later revealed enhancing intradural lesions along the spinal cord (involving C5, T5 and T8) and two lesions along the cerebellum. He was started on cyclophosphamide and topotecan and has completed 8 cycles without disease progression. Results: MG was diagnosed based solely on histo-pathological diagnosis. While MG’s lesion was extra-osseus in nature, more unusual presentations demonstrate the importance of molecular diagnostic techniques. AH was diagnosed based on chromosomal analysis. Progression is presumably from microscopic residual disease in intradural space that invaded CSF. He is presently on salvage chemotherapy. Nine months after relapse, disease is stable, with plans to minimize disease and consolidate. Conclusions: Intradural tumors tend to progress rapidly, maybe more so than extradural tumors. Future suggestions include developing a standard approach that will improve both treatment of Ewing’s sarcoma and prognostic outcomes for rare initial presentations.

Molecular diagnosis of pediatric tumors

2017 ◽  
Vol 2 (2) ◽  
pp. 33
Author(s):  
Tanushri Mukherjee ◽  
Soma Mukherjee ◽  
Rajat Dutta
Keyword(s):  
Residual Disease ◽  
Diagnostic Techniques ◽  
Molecular Techniques ◽  
Molecular Diagnostic ◽  
Molecular Diagnostic Techniques ◽  
Pediatric Tumors ◽  
Cancer Predisposition Syndrome ◽  
Childhood Tumors ◽  
Polymerase Chain

<p>Pediatric tumors are challenging in the context of best diagnosis, treatment, and prognosis. For tumors which have a genetic association or a cancer predisposition syndrome, the prognosis depends on accurate diagnosis. The application of molecular genetics to pediatric tumors has resulted in better diagnostic and prognostic factors for patient management. Molecular diagnostic techniques, such as reverse transcription polymerase chain reaction and fluorescence in situ hybridization (FISH), have become important tests for childhood tumors. Targeted therapies are aimed at specific translocations which are detected by FISH. Molecular techniques help in monitoring of minimal residual disease in childhood tumors.</p>

scholarly journals Moraxella catarrhalis: from Emerging to Established Pathogen

2002 ◽  
Vol 15 (1) ◽  
pp. 125-144 ◽  
Author(s):  
Cees M. Verduin ◽  
Cees Hol ◽  
André Fleer ◽  
Hans van Dijk ◽  
Alex van Belkum
Keyword(s):  
Moraxella Catarrhalis ◽  
Current Knowledge ◽  
Bacterial Species ◽  
Bacterial Pathogen ◽  
Diagnostic Techniques ◽  
Human Infection ◽  
Molecular Diagnostic ◽  
Molecular Diagnostic Techniques ◽  
Pathogenic Potential ◽  
The Past

SUMMARY Moraxella catarrhalis (formerly known as Branhamella catarrhalis) has emerged as a significant bacterial pathogen of humans over the past two decades. During this period, microbiological and molecular diagnostic techniques have been developed and improved for M. catarrhalis, allowing the adequate determination and taxonomic positioning of this pathogen. Over the same period, studies have revealed its involvement in respiratory (e.g., sinusitis, otitis media, bronchitis, and pneumonia) and ocular infections in children and in laryngitis, bronchitis, and pneumonia in adults. The development of (molecular) epidemiological tools has enabled the national and international distribution of M. catarrhalis strains to be established, and has allowed the monitoring of nosocomial infections and the dynamics of carriage. Indeed, such monitoring has revealed an increasing number of Β-lactamase-positive M. catarrhalis isolates (now well above 90%), underscoring the pathogenic potential of this organism. Although a number of putative M. catarrhalis virulence factors have been identified and described in detail, their relationship to actual bacterial adhesion, invasion, complement resistance, etc. (and ultimately their role in infection and immunity), has been established in a only few cases. In the past 10 years, various animal models for the study of M. catarrhalis pathogenicity have been described, although not all of these models are equally suitable for the study of human infection. Techniques involving the molecular manipulation of M. catarrhalis genes and antigens are also advancing our knowledge of the host response to and pathogenesis of this bacterial species in humans, as well as providing insights into possible vaccine candidates. This review aims to outline our current knowledge of M. catarrhalis, an organism that has evolved from an emerging to a well-established human pathogen.

Primary nasal cavity Ewing’s sarcoma in pediatric practice: A clinical case

2021 ◽  
Vol 59 (1) ◽  
pp. 39-42
Author(s):  
А. Bekisheva ◽  
A. Makhneva ◽  
E. Satbaeva ◽  
G. Abyov ◽  
M. Remkulova
Keyword(s):  
Nasal Cavity ◽  
Clinical Case ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Histopathological Examination ◽  
Neck Region ◽  
Diagnostic Techniques ◽  
Tumor Type ◽  
Head And Neck Region ◽  
Tumor Remission

Ewing’s sarcoma is an aggressive tumor rarely found in the head and neck region and extremely rare in the nasal cavity or paranasal sinuses (2-3% of all Ewing’s sarcomas). Purpose: The article presents a clinical diagnostic case of nasal cavity Ewing’s sarcoma finally verified only by IHC test. Results: The presented clinical case describes Ewing’s sarcoma of the nasal cavity in a 14-year-old girl and presents the clinical picture, the results of MRI and CT examination of the sinuses, histopathological and IHC tests. Adequate diagnostical tools made it possible to establish a diagnosis. Timely determined treatment tactics, taking into account the tumor localization and possible postoperative complications, led to tumor remission. At present, the patient is under dynamic observation. Conclusion: The presented clinical case confirms that a primary nasal cavity Ewing’s sarcoma diagnostic largely depends on histopathological examination since visual diagnostic techniques do not provide reliable information on the tumor type.

Local control and function after twice-a-day radiotherapy for Ewing's Sarcoma of bone

1991 ◽  
Vol 21 (6) ◽  
pp. 1509-1515 ◽  
Author(s):  
Robert B. Marcus ◽  
Amy Cantor ◽  
Travis C. Hears ◽  
John Graham-Pole ◽  
Nancy P. Mendenhall ◽  
...  
Keyword(s):  
Local Control ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
And Function

Unusual endophytic non-enhancing tumour in the renal pelvis: a diagnostic dilemma

2021 ◽  
Vol 14 (9) ◽  
pp. e245037
Author(s):  
Murali Krishna ◽  
Santosh Kumar ◽  
Kalpesh Mahesh Parmar ◽  
Venkatesh Dhana Sekaran
Keyword(s):  
Renal Cell ◽  
Cell Cancer ◽  
Diagnostic Techniques ◽  
Molecular Diagnostic ◽  
Molecular Diagnostic Techniques ◽  
Imaging Features ◽  
Diagnostic Dilemma ◽  
Upper Tract Urothelial Cancer ◽  
Cell Variant ◽  
Clear Cell Variant

Renal cell cancer (RCC) is incidentally detected on imaging in 50%–60% of cases. Among the RCCs, clear cell variant is most common and classically seen as heterogenous enhancing lesion on CT imaging. Hypoenhancing mass presents a diagnostic dilemma with differential diagnosis being urothelial carcinoma, fat poor angiomyolipoma, oncocytoma or rarer variants of RCC. Such cases require further evaluation in form of urine cytology or newer molecular diagnostic techniques. Here, we present a case of renal mass with minimal enhancement on CT scan and imaging features suggestive of upper tract urothelial cancer. Final histopathology revealed the mass to be chromophobe variant of renal cell carcinoma.

Diagnosis of melioidosis: the role of molecular techniques

2021 ◽  
Vol 16 (4) ◽  
pp. 271-288
Author(s):  
Ian Gassiep ◽  
Delaney Burnard ◽  
Michelle J Bauer ◽  
Robert E Norton ◽  
Patrick N Harris
Keyword(s):  
Laboratory Diagnosis ◽  
Diagnostic Techniques ◽  
Molecular Techniques ◽  
Molecular Diagnostic ◽  
Clinical Samples ◽  
Molecular Diagnostic Techniques ◽  
Detection And Identification ◽  
Life Years ◽  
Culture Independent ◽  
Future Utility

Melioidosis is an emerging infectious disease with an estimated global burden of 4.64 million disability-adjusted life years per year. A major determinant related to poor disease outcomes is delay to diagnosis due to the fact that identification of the causative agent Burkholderia pseudomallei may be challenging. Over the last 25 years, advances in molecular diagnostic techniques have resulted in the potential for rapid and accurate organism detection and identification direct from clinical samples. While these methods are not yet routine in clinical practice, laboratory diagnosis of infectious diseases is transitioning to culture-independent techniques. This review article aims to evaluate molecular methods for melioidosis diagnosis direct from clinical samples and discuss current and future utility and limitations.

scholarly journals Bacterial and Fungal Endophthalmitis

2017 ◽  
Vol 30 (3) ◽  
pp. 597-613 ◽  
Author(s):  
Marlene L. Durand
Keyword(s):  
Intravitreal Injection ◽  
Systemic Infection ◽  
Visual Outcome ◽  
Diagnostic Techniques ◽  
Medical Emergency ◽  
Molecular Diagnostic ◽  
Endogenous Endophthalmitis ◽  
Molecular Diagnostic Techniques ◽  
Permanent Loss ◽  
Hematogenous Seeding

SUMMARY Endophthalmitis is a severe eye infection that may result in permanent loss of useful vision in the affected eye. Most cases are exogenous and occur as a complication of cataract surgery, an intravitreal injection, or penetrating ocular trauma. Endogenous endophthalmitis results from hematogenous seeding of the eye by bacteria or fungi, but bacteremia or fungemia may be transient and patients may present without symptoms of systemic infection. Nearly all endophthalmitis patients present with decreased vision, and some also have eye pain. Eye examination usually reveals a hypopyon and intraocular inflammation. Diagnosis is clinical, supported by cultures of the vitreous and/or aqueous or by blood cultures in some endogenous cases. Molecular diagnostic techniques have been used in research laboratories for pathogen identification in endophthalmitis and offer the possibility of rapid diagnosis, including in culture-negative cases. Intravitreal injection of antibiotics is the most important component of treatment; some cases also benefit from surgical debridement of the vitreous by a vitrectomy. The visual outcome depends partly on the pathogen: coagulase-negative staphylococcal endophthalmitis has a better prognosis than does streptococcal endophthalmitis, for example. Endophthalmitis is a medical emergency, and prompt diagnosis and treatment are essential for saving vision.

Detection of circulating tumor cells in patients with Ewing's sarcoma and peripheral primitive neuroectodermal tumor.

1997 ◽  
Vol 15 (2) ◽  
pp. 583-588 ◽  
Author(s):  
D C West ◽  
H E Grier ◽  
M M Swallow ◽  
G D Demetri ◽  
L Granowetter ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Tumor Cells ◽  
Primitive Neuroectodermal Tumor ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Residual Disease ◽  
Neuroectodermal Tumor ◽  
Peripheral Primitive Neuroectodermal Tumor ◽  
Rt Pcr ◽  
Relapsed Disease

PURPOSE To determine the feasibility of detecting Ewing's sarcoma (ES) or peripheral primitive neuroectodermal tumor (PNET) through a reverse-transcriptase polymerase chain reaction (RT-PCR) of the t(11;22)(q24;q12) fusion transcript in blood and bone marrow samples from patients with these neoplasms. PATIENTS AND METHODS Peripheral-blood (PB) and/or bone marrow aspirate (BM) samples were obtained from 28 patients with ES or PNET at initial presentation or at relapse. Patients were divided into two groups: newly diagnosed patients with nonmetastatic disease and those with metastatic/relapsed disease. RNA was extracted from fractionated BM and PB samples, and RT-PCR was performed for the EWS/HumFLI1 fusion mRNA was transcribed across the t(11;22) breakpoint. RESULTS Among the 16 patients with nonmetastatic disease, three of 16 were RT-PCR positive for EWS/HumFLI1 RNA in BM and three of 10 were positive in PB. The total number of nonmetastatic patients who were positive in either PB or BM was four of 16 (25%). Among patients with metastatic/relapsed disease, two of six were positive in BM and five of 10 were positive in PB. The total fraction of patients with metastatic/relapsed disease that was positive in either BM or PB was six of 12 (50%). CONCLUSION In this study, we show that it is possible to amplify the EWS/HumFLI1 RNA by RT-PCR from the BM and PB of a subset of patients with both nonmetastatic and metastatic ES or PNET, which implies that occult tumor cells are present at these sites. The true biologic and clinical meaning of this information is unknown. However, it does suggest a possible application of RT-PCR for the monitoring of residual disease in patients who are undergoing therapy for ES or PNET. This approach may permit early identification of patients who may benefit from alternative therapy or who may be spared possible overtreatment.

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