Therapeutic Approaches Targeting PAX3-FOXO1 and Its Regulatory and Transcriptional Pathways in Rhabdomyosarcoma

Rhabdomyosarcoma (RMS) is a family of soft tissue cancers that are related to the skeletal muscle lineage and predominantly occur in children and young adults. A specific chromosomal translocation t(2;13)(q35;q14) that gives rise to the chimeric oncogenic transcription factor PAX3-FOXO1 has been identified as a hallmark of the aggressive alveolar subtype of RMS. PAX3-FOXO1 cooperates with additional molecular changes to promote oncogenic transformation and tumorigenesis in various human and murine models. Its expression is generally restricted to RMS tumor cells, thus providing a very specific target for therapeutic approaches for these RMS tumors. In this article, we review the recent understanding of PAX3-FOXO1 as a transcription factor in the pathogenesis of this cancer and discuss recent developments to target this oncoprotein for treatment of RMS.

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CT density of cervical thymus, in comparison with mediastinal thymus

Insights into Imaging ◽

10.1186/s13244-019-0781-z ◽

2019 ◽

Vol 10 (1) ◽

Author(s):

Anitha Sen ◽

Jiji Valsalamony ◽

Jubie Raj

Keyword(s):

Young Adults ◽

Soft Tissue ◽

Older Age ◽

List Type ◽

Age Group ◽

Positive Correlation ◽

Children And Young Adults ◽

Criteria For Diagnosis ◽

Ct Density ◽

Moderate Positive Correlation

Abstract Objectives Cervical component of thymus is noted more in children and young adults than in older age group. CT texture (lobules of soft tissue interspersed with fat), similarity with CT density of mediastinal thymus and continuity with mediastinal thymus on sagittal/coronal images, are given as the criteria for diagnosis of the cervical thymus. But CT densities of cervical and mediastinal components of the thymus may vary. The purpose of our study was to compare CT densities of cervical and mediastinal parts of the thymus, in cases where ultrasonography correlation was available. Methods We retrospectively identified 22 patients who had undergone CT between May 2015 and May 2017 and in whom ultrasonography (USG) correlation was available. CT densities of cervical and mediastinal components of thymus were measured. Results CT density of cervical thymus is lower than the CT density of mediastinal thymus by ~ 25 HU. There is a moderate positive correlation between CT densities of cervical and mediastinal parts of the thymus. CT densities of both cervical and mediastinal thymus were found to reduce with age, but the reduction was statistically significant only in the cervical thymus in this study. Conclusions CT densities of cervical and mediastinal components of the thymus may vary, with CT density of cervical thymus being lower. There is a positive correlation between CT densities of cervical and mediastinal parts of the thymus. CT density of cervical thymus reduces with age. Understanding these may help avoid confusion on CT and avoid the need for correlative USG, saving time and effort.

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Cerebral and skeletal muscle tissue oxygenation during exercise challenge in children and young adults with sickle cell anaemia

British Journal of Haematology ◽

10.1111/bjh.17724 ◽

2021 ◽

Author(s):

Christina M. Barriteau ◽

Abraham Chiu ◽

Mark Rodeghier ◽

Robert I. Liem

Keyword(s):

Skeletal Muscle ◽

Young Adults ◽

Sickle Cell ◽

Muscle Tissue ◽

Sickle Cell Anaemia ◽

Tissue Oxygenation ◽

Skeletal Muscle Tissue ◽

Exercise Challenge ◽

Children And Young Adults

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Primitive Neuroectodermal Tumor of the Stomach

Archives of Pathology & Laboratory Medicine ◽

10.5858/2005-129-107-pntots ◽

2005 ◽

Vol 129 (1) ◽

pp. 107-110 ◽

Cited By ~ 5

Author(s):

Raoulin Soulard ◽

Valère Claude ◽

Philippe Camparo ◽

Jean-Philippe Dufau ◽

Patrick Saint-Blancard ◽

...

Keyword(s):

Polymerase Chain Reaction ◽

Young Adults ◽

Soft Tissue ◽

Ewing Sarcoma ◽

Primitive Neuroectodermal Tumor ◽

Neuron Specific Enolase ◽

Neuroectodermal Tumor ◽

Chain Reaction ◽

Children And Young Adults ◽

Polymerase Chain

Abstract Ewing sarcoma/primitive neuroectodermal tumor is classically a tumor of the soft tissue or bone in children and young adults, but several cases have been described in patients of all ages. Within the last decade, the clinicopathologic spectrum of Ewing sarcoma/primitive neuroectodermal tumor has been markedly expanded by recognition that the tumor may also have a visceral origin. We describe a case of primitive neuroectodermal tumor arising in the stomach of a 66-year-old woman. The neoplasm was excised using a radical surgical procedure. Microscopically, the tumor was made up of solid nests and sheets of round cells. Immunohistochemically, the tumor cells showed immunoreactivity for CD99, S100, neuron-specific enolase, and vimentin. A multiplex real-time polymerase chain reaction assay detected an EWS-ERG fusion. To our knowledge, this is the first description of a primitive neuroectodermal tumor arising in the stomach.

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Recommendations from the Association for European Paediatric and Congenital Cardiology for training in pulmonary hypertension

Cardiology in the Young ◽

10.1017/s104795111900235x ◽

2019 ◽

Vol 29 (11) ◽

pp. 1323-1327 ◽

Cited By ~ 3

Author(s):

Hannes Sallmon ◽

Shahin Moledina ◽

Dimpna C. Albert ◽

Maurice Beghetti ◽

Rolf M. F. Berger ◽

...

Keyword(s):

Pulmonary Hypertension ◽

Medical Training ◽

Healthcare Providers ◽

High Morbidity ◽

Therapeutic Approaches ◽

Non Invasive ◽

European Paediatric ◽

Recent Developments ◽

Children And Young Adults ◽

Multiple Health

AbstractPulmonary hypertension is a complex and progressive condition that is either idiopathic or heritable, or associated with one or multiple health conditions, with or without congenital or acquired cardiovascular disease. Recent developments have tremendously increased the armamentarium of diagnostic and therapeutic approaches in children and young adults with pulmonary hypertension that is still associated with a high morbidity and mortality. These modalities include non-invasive imaging, pharmacotherapy, interventional and surgical procedures, and supportive measures. The optimal, tailored diagnostic and therapeutic strategies for pulmonary hypertension in the young are rapidly evolving but still face enormous challenges: Healthcare providers need to take the patient’s age, development, disease state, and family concerns into account when initiating advanced diagnostics and treatment. Therefore, there is a need for guidance on core and advanced medical training in paediatric pulmonary hypertension. The Association for European Paediatric and Congenital Cardiology working group “pulmonary hypertension, heart failure and transplantation” has produced this document as an expert consensus statement; however, all recommendations must be considered and applied in the context of the local and national infrastructure and legal regulations.

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Percutaneous Image-Guided Treatment of Benign Musculoskeletal Tumors in Children

Seminars in Musculoskeletal Radiology ◽

10.1055/s-0037-1608003 ◽

2018 ◽

Vol 22 (01) ◽

pp. 003-011 ◽

Cited By ~ 2

Author(s):

Anne Gill ◽

C. Hawkins ◽

Matthew O'Dell

Keyword(s):

Young Adults ◽

Soft Tissue ◽

Soft Tissue Tumors ◽

Research Interest ◽

Percutaneous Ablation ◽

Image Guided ◽

Musculoskeletal Tumors ◽

Children And Young Adults

AbstractPercutaneous ablation of benign musculoskeletal tumors in children has become an area of significant clinical growth over the last decade. With growing research interest, the technologies available and techniques used are becoming increasingly safe and effective. We review some of the more common ablation technologies and their utility in several common benign bone and soft tissue tumors that occur in children and young adults.

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