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Full-Text Articles in Medicine and Health Sciences

Identification Of Dual Strn-Ntrk2 Rearrangements In A High Grade Sarcoma, With Good Clinical Response To First-Line Larotrectinib Therapy, Ruihe Lin, Atrayee Basu Mallick, Zi-Xuan Wang, Phd, Scot Andrew Brown, Bo Lu, Md, Wei Jiang Oct 2023

Identification Of Dual Strn-Ntrk2 Rearrangements In A High Grade Sarcoma, With Good Clinical Response To First-Line Larotrectinib Therapy, Ruihe Lin, Atrayee Basu Mallick, Zi-Xuan Wang, Phd, Scot Andrew Brown, Bo Lu, Md, Wei Jiang

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

BACKGROUND: Among the three NTRK genes, NTRK2 possesses a tremendous structural complexity and involves tumorigenesis of several types of tumors. To date, only STRN and RBPMS are identified in the fusion with NTRK2 in adult soft tissue tumors. More recently, the highly selective Trk tyrosine kinases inhibitors, including larotrectinib and entrectinib, have shown significant efficacy for treating tumors harboring NTRK fusions and were approved by FDA.

CASE PRESENTATION: We report a case of sarcoma in a 35-year-old female harboring two STRN-NTRK2 gene fusions, with a good clinical response to first-line larotrectinib treatment. Core biopsy of the 16.5 cm gluteal mass …


Moans, Palpable Groin, And Entrapment Of Bone: A Case Of Malignant Peripheral Nerve Sheath Tumor In An Otherwise Healthy Hispanic Male, Nelson D. Gonzalez, Christine E. Loftis, Rosa Guedez-White Sep 2023

Moans, Palpable Groin, And Entrapment Of Bone: A Case Of Malignant Peripheral Nerve Sheath Tumor In An Otherwise Healthy Hispanic Male, Nelson D. Gonzalez, Christine E. Loftis, Rosa Guedez-White

Research Symposium

Background: Malignant peripheral nerve sheath tumors (MPNTs) are rare malignant soft tissue sarcomas that have an incidence of about 0.001 %. MPNTs typically occur in individuals who have neurofibromatosis or secondary to radiation therapy and rarely occur sporadically. We present a case of a previously healthy 56-year-old gentleman who was diagnosed with MPNTs.

Case: A healthy 56-year-old gentleman presented with worsening LLQ abdominal pain for 6 months. Associated symptoms included bloating, LLE swelling, early satiety for the past 2 months, and a 5-10lb unintentional weight loss. Patient denied recent cough, night sweats, dyspnea, fever, chills, melena or hematochezia. Vitals were …


International Consensus Statement On Allergy And Rhinology: Sinonasal Tumors, Edward C. Kuan, Eric W. Wang, Nithin D. Adappa, Daniel M. Beswick, Nyall R. London, Shirley Y. Su, Marilene B. Wang, Waleed M. Abuzeid, Borislav Alexiev, Jeremiah A. Alt, Paolo Antognoni, Michelle Alonso-Basanta, Pete S. Batra, Mihir Bhayani, Diana Bell, Manuel Bernal-Sprekelsen, Christian S. Betz, Jean Yves Blay, Benjamin S. Bleier, Juliana Bonilla-Velez, Claudio Callejas, Ricardo L. Carrau, Roy R. Casiano, Paolo Castelnuovo, Rakesh K. Chandra, Vasileios Chatzinakis, Simon B. Chen, Alexander G. Chiu, Stephen C. Hernandez, Et Al Sep 2023

International Consensus Statement On Allergy And Rhinology: Sinonasal Tumors, Edward C. Kuan, Eric W. Wang, Nithin D. Adappa, Daniel M. Beswick, Nyall R. London, Shirley Y. Su, Marilene B. Wang, Waleed M. Abuzeid, Borislav Alexiev, Jeremiah A. Alt, Paolo Antognoni, Michelle Alonso-Basanta, Pete S. Batra, Mihir Bhayani, Diana Bell, Manuel Bernal-Sprekelsen, Christian S. Betz, Jean Yves Blay, Benjamin S. Bleier, Juliana Bonilla-Velez, Claudio Callejas, Ricardo L. Carrau, Roy R. Casiano, Paolo Castelnuovo, Rakesh K. Chandra, Vasileios Chatzinakis, Simon B. Chen, Alexander G. Chiu, Stephen C. Hernandez, Et Al

School of Medicine Faculty Publications

Background; Sinonasal neoplasms, whether benign and malignant, pose a significant challenge to clinicians and represent a model area for multidisciplinary collaboration in order to optimize patient care. The International Consensus Statement on Allergy and Rhinology; Sinonasal Tumors (ICSNT) aims to summarize the best available evidence and presents 48 thematic and histopathology-based topics spanning the field. Methods; In accordance with prior International Consensus Statement on Allergy and Rhinology documents, ICSNT assigned each topic as an Evidence-Based Review with Recommendations, Evidence-Based Review, and Literature Review based on the level of evidence. An international group of multidisciplinary author teams were assembled for the …


A Rare Metastatic Mesenteric Malignant Pecoma With Tsc2 Mutation Treated With Palliative Surgical Resection And Nab-Sirolimus: A Case Report, Luke Meredith, Timothy Chao, Avinoam Nevler, Atrayee Basu Mallick, Rajan Singla, Peter Mccue, Wilbur Bowne, Wei Jiang, Md, Phd Apr 2023

A Rare Metastatic Mesenteric Malignant Pecoma With Tsc2 Mutation Treated With Palliative Surgical Resection And Nab-Sirolimus: A Case Report, Luke Meredith, Timothy Chao, Avinoam Nevler, Atrayee Basu Mallick, Rajan Singla, Peter Mccue, Wilbur Bowne, Wei Jiang, Md, Phd

Kimmel Cancer Center Faculty Papers

BACKGROUND: Malignant perivascular epithelioid cell tumors (PEComas) are exceedingly rare malignant mesenchymal neoplasms with characteristic morphological and immunohistochemical (IHC) patterns. However, some malignant PEComas are poorly differentiated with atypical histopathological features, making a definitive diagnosis difficult. PEComas are most commonly found in females and often show either TSC1 or TSC2 alterations, which result in the activation of the mTOR pathway, or TFE3 fusions. Given these molecular characteristics, mTOR inhibitors have recently been approved by the FDA in the treatment of malignant PEComas, particularly in those with TSC1/2 alterations. Therefore, molecular analyses may be helpful for both the diagnostic workup of …


Prevalence, Distribution, And Histopathological Features Of Malignant Tumors Reported At Tertiary Level In Afghanistan: A 3-Year Study, Haider Ali Malakzai, Ahmed Maseh Haidary, Saleema A. Gulzar, Mujtaba Haidari, Abdul Sami Ibrahimkhil, Ramin Saadaat, Ahmadullah Hakimi, Sayed Murtaza Sadat Hofiani, Soma Rahmani, Jamshid Abdul Ghafar Aug 2022

Prevalence, Distribution, And Histopathological Features Of Malignant Tumors Reported At Tertiary Level In Afghanistan: A 3-Year Study, Haider Ali Malakzai, Ahmed Maseh Haidary, Saleema A. Gulzar, Mujtaba Haidari, Abdul Sami Ibrahimkhil, Ramin Saadaat, Ahmadullah Hakimi, Sayed Murtaza Sadat Hofiani, Soma Rahmani, Jamshid Abdul Ghafar

School of Nursing & Midwifery

Purpose: Cancer is one of the leading causes of mortality and morbidity, and therefore, tremendous research work is continuously being done around the world with consideration of etiopathogenesis as well as identification of therapeutic targets. Decades of continuous war in Afghanistan has left the medical infrastructure of the country in a miserable situation. There is a serious deficiency in research work in the fields of pathology and oncology at the moment with minimal data available to elaborate about the demographic characteristics of various malignant disorders in the country, which would be indispensable to pave the way for further research and …


Intracranial Mesenchymal Tumors With Fet-Creb Fusion Are Composed Of At Least Two Epigenetic Subgroups Distinct From Meningioma And Extracranial Sarcomas, Emily A. Sloan, Rohit Gupta, Christian Koelsche, Jason Chiang, Javier E. Villanueva-Meyer, Sanda Alexandrescu, Jennifer E. Eschbacher, Wesley Wang, Manuela Mafra, Nasir Ud Din Nov 2021

Intracranial Mesenchymal Tumors With Fet-Creb Fusion Are Composed Of At Least Two Epigenetic Subgroups Distinct From Meningioma And Extracranial Sarcomas, Emily A. Sloan, Rohit Gupta, Christian Koelsche, Jason Chiang, Javier E. Villanueva-Meyer, Sanda Alexandrescu, Jennifer E. Eschbacher, Wesley Wang, Manuela Mafra, Nasir Ud Din

Department of Pathology and Laboratory Medicine

Intracranial mesenchymal tumor, FET-CREB fusion-positive' occurs primarily in children and young adults and has previously been termed intracranial angiomatoid fibrous histiocytoma (AFH) or intracranial myxoid mesenchymal tumor (IMMT). Here we performed genome-wide DNA methylation array profiling of 20 primary intracranial mesenchymal tumors with FET-CREB fusion to further study their ontology. These tumors resolved into two distinct epigenetic subgroups that were both divergent from all other analyzed intracranial neoplasms and soft tissue sarcomas, including meningioma, clear cell sarcoma of soft tissue (CCS), and AFH of extracranial soft tissue. The first subgroup (Group A, 16 tumors) clustered nearest to but independent of …


Impact Of Intratumor Heterogeneity And The Tumor Microenvironment In Shaping Tumor Evolution And Response To Therapy, Akash Mitra Jun 2021

Impact Of Intratumor Heterogeneity And The Tumor Microenvironment In Shaping Tumor Evolution And Response To Therapy, Akash Mitra

Dissertations & Theses (Open Access)

Intratumor heterogeneity (ITH) is a crucial challenge in cancer treatment. The genotypic and phenotypic heterogeneity underlying diverse cancer types leads to subclonal variation, which may result in mixed or failed response to therapy. The heterogeneity at the tumor level, along with the tumor microenvironment (TME), often shapes tumor evolution and ultimately clinical outcome. Given that modern treatment paradigms increasingly expose patients with metastatic disease to multiple treatment modalities through the course of their disease, there exists a need to characterize robust and predictive biomarkers of response to therapy. In order to accurately characterize tumor evolution, we need to account for …


Intracranial Mesenchymal Tumor With Fet-Creb Fusion - A Unifying Diagnosis For The Spectrum Of Intracranial Myxoid Mesenchymal Tumors And Angiomatoid Fibrous Histiocytoma-Like Neoplasms, Emily A. Sloan, Jason Chiang, Javier E. Villanueva-Meyer, Sanda Alexandrescu, Jennifer M. Eschbacher, Wesley Wang, Manuela Mafra, Nasir Ud Din, Emily Carr-Boy, Michael Watson Nov 2020

Intracranial Mesenchymal Tumor With Fet-Creb Fusion - A Unifying Diagnosis For The Spectrum Of Intracranial Myxoid Mesenchymal Tumors And Angiomatoid Fibrous Histiocytoma-Like Neoplasms, Emily A. Sloan, Jason Chiang, Javier E. Villanueva-Meyer, Sanda Alexandrescu, Jennifer M. Eschbacher, Wesley Wang, Manuela Mafra, Nasir Ud Din, Emily Carr-Boy, Michael Watson

Department of Pathology and Laboratory Medicine

Intracranial mesenchymal tumors with FET-CREB fusions are a recently described group of neoplasms in children and young adults characterized by fusion of a FET family gene (usually EWSR1, but rarely FUS) to a CREB family transcription factor (ATF1, CREB1, or CREM), and have been variously termed intracranial angiomatoid fibrous histiocytoma or intracranial myxoid mesenchymal tumor. The clinical outcomes, histologic features, and genomic landscape are not well defined. Here we studied twenty patients with intracranial mesenchymal tumors proven to harbor FET-CREB fusion by next-generation sequencing (NGS). The 16 female and 4 male patients had a median age of 14 years (range …


Extra Medullar Granulocytic Sarcoma: A Case Report Of An Exceptional Localization, Bouhani Malek, Sakhri Saida, Jaidane Olfa, Adouni Olfa, Chargui Riadh, Rahal Khaled Apr 2020

Extra Medullar Granulocytic Sarcoma: A Case Report Of An Exceptional Localization, Bouhani Malek, Sakhri Saida, Jaidane Olfa, Adouni Olfa, Chargui Riadh, Rahal Khaled

Journal of Mind and Medical Sciences

Granulocytic sarcoma is a rare type of tumor composed of extramedullary immature cells. The breast location is very rare; it accounts for less than 8% of cases. The present study reports the case of a 36-year-old female with a medical history of myelodysplastic syndrome. She was referred because of a lump in the left breast. We have diagnosed a case of granulocytic sarcoma of the breast by core biopsy. Histology and immunohistochemistry showed hypercellular smears with immature myeloid cells. The blast cells were myeloperoxidase positive.

The patient underwent a lumpectomy. Five months later, she developed a contralateral recurrence, treated by …


Sarcoma European And Latin American Network (Selnet) Recommendations On Prioritization In Sarcoma Care During The Covid-19 Pandemic, J. Martin-Broto, N. Hindi, S. Aguiar, R. Badilla-Gonzalez, V. Castro-Oliden, M. Chacon, R. Correa-Generoso, E. De Alava, R. Maki, J. Blay, +25 Additional Authors Jan 2020

Sarcoma European And Latin American Network (Selnet) Recommendations On Prioritization In Sarcoma Care During The Covid-19 Pandemic, J. Martin-Broto, N. Hindi, S. Aguiar, R. Badilla-Gonzalez, V. Castro-Oliden, M. Chacon, R. Correa-Generoso, E. De Alava, R. Maki, J. Blay, +25 Additional Authors

Journal Articles

No abstract provided.


Probabilistic Modeling Of Personalized Drug Combinations From Integrated Chemical Screen And Molecular Data In Sarcoma, N. E. Berlow, R. Rikhi, M. Geltzeiler, J. Abraham, M. N. Svalina, L. E. Davis, E. Wise, M. Mancini, R. G. Maki, C. Keller, +19 Additional Authors Jan 2019

Probabilistic Modeling Of Personalized Drug Combinations From Integrated Chemical Screen And Molecular Data In Sarcoma, N. E. Berlow, R. Rikhi, M. Geltzeiler, J. Abraham, M. N. Svalina, L. E. Davis, E. Wise, M. Mancini, R. G. Maki, C. Keller, +19 Additional Authors

Journal Articles

No abstract provided.


The Value Of Mri In Distinguishing Subtypes Of Lipomatous Extremity Tumors Needs Reassessment In The Era Of Mdm2 And Cdk4 Testing, Sean Ryan, Julia Visgauss, David Kerr, Joshua Helmkamp, Nicholas Said, Emily Vinson, Patrick W. O'Donnell, Xuechan Li, Sin-Ho Jung, Diana Cardona, William Eward, Brian Brigman Mar 2018

The Value Of Mri In Distinguishing Subtypes Of Lipomatous Extremity Tumors Needs Reassessment In The Era Of Mdm2 And Cdk4 Testing, Sean Ryan, Julia Visgauss, David Kerr, Joshua Helmkamp, Nicholas Said, Emily Vinson, Patrick W. O'Donnell, Xuechan Li, Sin-Ho Jung, Diana Cardona, William Eward, Brian Brigman

Markey Cancer Center Faculty Publications

Introduction. Extremity lipomas and well-differentiated liposarcomas (WDLs) are difficult to distinguish on MR imaging. We sought to evaluate the accuracy of MRI interpretation using MDM2 amplification, via fluorescence in-situ hybridization (FISH), as the gold standard for pathologic diagnosis. Furthermore, we aimed to investigate the utility of a diagnostic formula proposed in the literature. Methods. We retrospectively collected 49 patients with lipomas or WDLs utilizing MDM2 for pathologic diagnosis. Four expert readers interpreted each patient's MRI independently and provided a diagnosis. Additionally, a formula based on imaging characteristics (i.e. tumor depth, diameter, presence of septa, and internal cystic change) …


Activity Of Pazopanib And Trabectedin In Advanced Alveolar Soft Part Sarcoma, S. Stacchiotti, O. Mir, A. Le Cesne, B. Vincenzi, A. Fedenko, R. G. Maki, N. Somaiah, S. Patel, M. Brahmi, A. Kawai, +13 Additional Authors Jan 2018

Activity Of Pazopanib And Trabectedin In Advanced Alveolar Soft Part Sarcoma, S. Stacchiotti, O. Mir, A. Le Cesne, B. Vincenzi, A. Fedenko, R. G. Maki, N. Somaiah, S. Patel, M. Brahmi, A. Kawai, +13 Additional Authors

Journal Articles

No abstract provided.


Smarcb1 Is Required For Widespread Baf Complex-Mediated Activation Of Enhancers And Bivalent Promoters., Robert T Nakayama, John L Pulice, Alfredo M Valencia, Matthew J Mcbride, Zachary M Mckenzie, Mark A Gillespie, Wai Lim Ku, Mingxiang Teng, Kairong Cui, Robert T Williams, Seth H Cassel, He Qing, Christian J Widmer, George D Demetri, Rafael A Irizarry, Keji Zhao, Jeffrey A Ranish, Cigall Kadoch Nov 2017

Smarcb1 Is Required For Widespread Baf Complex-Mediated Activation Of Enhancers And Bivalent Promoters., Robert T Nakayama, John L Pulice, Alfredo M Valencia, Matthew J Mcbride, Zachary M Mckenzie, Mark A Gillespie, Wai Lim Ku, Mingxiang Teng, Kairong Cui, Robert T Williams, Seth H Cassel, He Qing, Christian J Widmer, George D Demetri, Rafael A Irizarry, Keji Zhao, Jeffrey A Ranish, Cigall Kadoch

Articles, Abstracts, and Reports

Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by which this alteration contributes to tumorigenesis remains poorly understood. We find that BAF47 loss destabilizes BAF complexes on chromatin, absent significant changes in complex assembly or integrity. Rescue of BAF47 in BAF47-deficient sarcoma cell lines results in increased genome-wide BAF complex occupancy, facilitating widespread enhancer activation and opposition of Polycomb-mediated repression at bivalent promoters. We …


Phase Ib/Ii Study Of The Safety And Efficacy Of Combination Therapy With Multikinase Vegf Inhibitor Pazopanib And Mek Inhibitor Trametinib In Advanced Soft Tissue Sarcoma., Vivek Subbiah, Christian Meyer, Ralph G. Zinner, Funda Meric-Bernstam, Marianna L. Zahurak, Ashley O'Connor, Jason Roszik, Kenna Shaw, Joseph A. Ludwig, Razelle Kurzrock, Nilofe A. Azad Aug 2017

Phase Ib/Ii Study Of The Safety And Efficacy Of Combination Therapy With Multikinase Vegf Inhibitor Pazopanib And Mek Inhibitor Trametinib In Advanced Soft Tissue Sarcoma., Vivek Subbiah, Christian Meyer, Ralph G. Zinner, Funda Meric-Bernstam, Marianna L. Zahurak, Ashley O'Connor, Jason Roszik, Kenna Shaw, Joseph A. Ludwig, Razelle Kurzrock, Nilofe A. Azad

Department of Medical Oncology Faculty Papers

Purpose: Pazopanib, a multireceptor tyrosine kinase inhibitor targeting primarily VEGFRs1–3, is approved for advanced soft tissue sarcoma (STS) and renal cell cancer. Downstream of VEGFR, trametinib is an FDA-approved MEK inhibitor used for melanoma. We hypothesized that vertical pathway inhibition using trametinib would synergize with pazopanib in advanced STS. Experimental Design: In an open-label, multicenter, investigator-initiated National Comprehensive Cancer Network (NCCN)-sponsored trial, patients with metastatic or advanced STS received pazopanib 800 mg and 2 mg of trametinib continuously for 28-day cycles. The primary endpoint was 4-month progression-free survival (PFS). Secondary endpoints were overall survival, response rate, and disease control rate. …


Treatment Pathway Of Bone Sarcoma In Children, Adolescents, And Young Adults, Damon R. Reed, Masanori Hayashi, Lars M. Wagner, Odion Binitie, Diana A. Steppan, Andrew S. Brohl, Eric T. Shinohara, Julia A. Bridge, David M. Loeb, Scott C. Borinstein, Michael S. Isakoff Jun 2017

Treatment Pathway Of Bone Sarcoma In Children, Adolescents, And Young Adults, Damon R. Reed, Masanori Hayashi, Lars M. Wagner, Odion Binitie, Diana A. Steppan, Andrew S. Brohl, Eric T. Shinohara, Julia A. Bridge, David M. Loeb, Scott C. Borinstein, Michael S. Isakoff

Pediatrics Faculty Publications

When pediatric, adolescent, and young adult patients present with a bone sarcoma, treatment decisions, especially after relapse, are complex and require a multidisciplinary approach. This review presents scenarios commonly encountered in the therapy of bone sarcomas with the goal of objectively presenting a consensus, multidisciplinary management approach. Little variation was found in the authors' group with respect to local control or systemic therapy. Clinical trials were universally prioritized in all settings. Decisions regarding relapse therapies in the absence of a clinical trial had very minor variations initially, but a consensus was reached after a literature review and discussion. This review …


Oncolog, Volume 61, Number 07, July 2016, Bryan Tutt, Sarah Bronson, Laura Russell Jul 2016

Oncolog, Volume 61, Number 07, July 2016, Bryan Tutt, Sarah Bronson, Laura Russell

OncoLog MD Anderson's Report to Physicians (All issues)

  • Improving Rates of Vaccination after Hematopoietic Stem Cell Transplant: Patients who have undergone a hematopoietic stem cell transplant (HSCT) for a hematological cancer usually lose the immunity they had acquired through vaccination. Although guidelines exist for vaccinating immunocompromised transplant recipients, many patients go unvaccinated or do not complete the series of vaccinations. An ongoing initiative at The University of Texas MD Anderson Cancer Center is using a multipronged approach to improve rates of vaccination after HSCT.
  • Bone Loss Prevention in Patients with Cancer: Patients undergoing cancer treatment are at an increased risk of fractures because many cancer therapies tend to …


Clinical Factors Associated With Long-Term Complete Remission Versus Poor Response To Chemotherapy In Hiv-Infected Children And Adolescents With Kaposi Sarcoma Receiving Bleomycin And Vincristine: A Retrospective Observational Study, Nader K. El-Mallawany, William Kamiyango, Jeremy Kim Slone, Jimmy Villiera, Carrie L. Kovarik, Carrie M. Cox, Dirk Dittmer, Saeed Ahmed, Gordon E. Schutze, Michael E. Scheurer, Peter N. Kazembe, Parth S. Mehta Apr 2016

Clinical Factors Associated With Long-Term Complete Remission Versus Poor Response To Chemotherapy In Hiv-Infected Children And Adolescents With Kaposi Sarcoma Receiving Bleomycin And Vincristine: A Retrospective Observational Study, Nader K. El-Mallawany, William Kamiyango, Jeremy Kim Slone, Jimmy Villiera, Carrie L. Kovarik, Carrie M. Cox, Dirk Dittmer, Saeed Ahmed, Gordon E. Schutze, Michael E. Scheurer, Peter N. Kazembe, Parth S. Mehta

NYMC Faculty Publications

Kaposi sarcoma (KS) is the most common HIV-associated malignancy in children and adolescents in Africa. Pediatric KS is distinct from adult disease. We evaluated the clinical characteristics associated with long-term outcomes. We performed a retrospective observational analysis of 70 HIV-infected children and adolescents with KS less than 18 years of age diagnosed between 8/2010 and 6/2013 in Lilongwe, Malawi. Local first-line treatment included bleomycin and vincristine plus nevirapine-based highly active anti-retroviral therapy (HAART). Median age was 8.6 years (range 1.7-17.9); there were 35 females (50%). Most common sites of presentation were: lymph node (74%), skin (59%), subcutaneous nodules (33%), oral …


Mice Null For The Deubiquitinase Usp18 Spontaneously Develop Leiomyosarcomas, Fadzai Chinyengetere, David J. Sekula, Yun Lu, Andrew J. Giustini, Aarti Sanglikar, Masanori Kawakami, Tian Ma Nov 2015

Mice Null For The Deubiquitinase Usp18 Spontaneously Develop Leiomyosarcomas, Fadzai Chinyengetere, David J. Sekula, Yun Lu, Andrew J. Giustini, Aarti Sanglikar, Masanori Kawakami, Tian Ma

Dartmouth Scholarship

USP18 (ubiquitin-specific protease 18) removes ubiquitin-like modifier interferon stimulated gene 15 (ISG15) from conjugated proteins. USP18 null mice in a FVB/N background develop tumors as early as 2 months of age. These tumors are leiomyosarcomas and thus represent a new murine model for this disease.


Evaluation Of Current Clinical Criteria For Li-Fraumeni Syndrome In A Diverse Sample Of Tp53 Mutation Carriers, Emily A. Parham May 2014

Evaluation Of Current Clinical Criteria For Li-Fraumeni Syndrome In A Diverse Sample Of Tp53 Mutation Carriers, Emily A. Parham

Dissertations & Theses (Open Access)

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome caused by heterozyogous germline mutations in the TP53 gene and characterized by an excess of early-onset cancers, high lifetime risk of cancer, and a wide range of tumor types. Recent studies suggesting a benefit in comprehensive screening protocols for both children and adults make the timely identification of individuals with LFS increasingly important.

A number of criteria have been proposed to identify patients with LFS. The National Comprehensive Cancer Network (NCCN) combines several in its Clinical Practice Guidelines for TP53 genetic testing. Prior studies have shown that the cumulative sensitivity of …


Choroidal Metastasis From Leiomyosarcoma In Two Cases, Eric Feinstein, Swathi Kaliki, Carol L Shields, Hormoz Ehya, Jerry A Shields Jan 2014

Choroidal Metastasis From Leiomyosarcoma In Two Cases, Eric Feinstein, Swathi Kaliki, Carol L Shields, Hormoz Ehya, Jerry A Shields

Wills Eye Hospital Papers

Leiomyosarcoma is a malignant tumor of mesenchymal cells and is the most common soft-tissue sarcoma. Leiomyosarcoma is a notably rare tumor in the ophthalmic region and can be of primary, secondary or metastatic origin. To the best of our knowledge, there has only been one published case of leiomyosarcoma metastasis to the choroid. In this case study, we report two cases of primary leiomyosarcoma with metastasis to the choroid of the eye. Both cases displayed systemic metastasis and showed response to high dose plaque radiotherapy. Despite its prevalence as the leading form of sarcoma, leiomyosarcoma rarely metastasizes to the ocular …


Malignant Peripheral Nerve Sheath Tumor (Mpnst): An Overview With Emphasis On Pathology, Imaging And Management Strategies., Timothy C. Beer Jun 2012

Malignant Peripheral Nerve Sheath Tumor (Mpnst): An Overview With Emphasis On Pathology, Imaging And Management Strategies., Timothy C. Beer

Timothy C Beer

MPNSTs are rare malignancies that are classically associated with pre-existing plexiform neurofibromas in neurofibromatosis type 1 (NF-1) patients, but also occur in association with radiation as well as sporadically in patients with no known risk factors. The typical presentation of sporadic MPNST is a new painless enlarging mass. The typical presentation of MPNST in an NF-1 patient is rapid enlargement or new onset of pain associated with a pre-existing plexiform neurofibroma. Although both MPNST and benign neurofibromas share in common the absence of neurofibromin function due to loss of both NF-1 alleles, malignant transformation to MPNST requires several additional aberrations, …


Oncolog, Volume 56, Number 06, June 2011, John H. Mccool, Sunni Hoseman Jun 2011

Oncolog, Volume 56, Number 06, June 2011, John H. Mccool, Sunni Hoseman

OncoLog MD Anderson's Report to Physicians (All issues)

  • MD Anderson Celebrates 70th Anniversary: Its first clinical facility was a converted Army barracks, its first headquarters was renovated residential estate near downtown Houston, and its first cancer research was conducted by four scientists in a former horse stable
  • Compass: Stage II or III Soft Tissue Sarcoma-Chemotherapy and radiation therapy before or after surgery benefit patients


Four Year Experience Of Sarcoma Of Soft Tissues And Bones In A Tertiary Care Hospital And Review Of Literature, Tayyaba Z. Ansari, Nehal Masood, Asra Parekh, Rabab Z. Jafri, Syed N. Niamatullah, Adnan A. Zaidi, Masood Umer May 2011

Four Year Experience Of Sarcoma Of Soft Tissues And Bones In A Tertiary Care Hospital And Review Of Literature, Tayyaba Z. Ansari, Nehal Masood, Asra Parekh, Rabab Z. Jafri, Syed N. Niamatullah, Adnan A. Zaidi, Masood Umer

Department of Medicine

Background:

Sarcoma encompasses an uncommon group of cancer and the data is insufficient from Pakistan. We report our four years experience of Sarcoma of soft tissues and bones.

Methods:

This cross sectional study was carried out at Aga Khan University Hospital from 2004 to 2008. The Patients were divided into two groups from the outset i.e. initially diagnosed and relapsed group and separate sub group analysis was conducted.

Results:

Out of 93 newly diagnosed Patients, 58 belonged to bone sarcoma and 35 to soft tissue sarcoma group. While for relapsed Patients, 5 had soft tissue sarcoma and 9 had bone …


Vimentin Is A Novel Akt1 Target Mediating Motility And Invasion., Q-S Zhu, K Rosenblatt, K-L Huang, G Lahat, R Brobey, S Bolshakov, T Nguyen, Z Ding, R Belousov, K Bill, X Luo, A Lazar, Adam Dicker, Md, Phd, G B Mills, M-C Hung, D Lev Jan 2011

Vimentin Is A Novel Akt1 Target Mediating Motility And Invasion., Q-S Zhu, K Rosenblatt, K-L Huang, G Lahat, R Brobey, S Bolshakov, T Nguyen, Z Ding, R Belousov, K Bill, X Luo, A Lazar, Adam Dicker, Md, Phd, G B Mills, M-C Hung, D Lev

Department of Radiation Oncology Faculty Papers

The PI3K/AKT signaling pathway is aberrant in a wide variety of cancers. Downstream effectors of AKT are involved in survival, growth and metabolic-related pathways. In contrast, contradictory data relating to AKT effects on cell motility and invasion, crucial prometastatic processes, have been reported pointing to a potential cell type and isoform type-specific AKT-driven function. By implication, study of AKT signaling should optimally be conducted in an appropriate intracellular environment. Prognosis in soft-tissue sarcoma (STS), the aggressive malignancies of mesenchymal origin, is poor, reflecting our modest ability to control metastasis, an effort hampered by lack of insight into molecular mechanisms driving …


Orbital Embryonal Rhabdomyosarcomain Karachi (1998-2002), Yasmin Bhurgri, A. Mazhar, H. Bhurgri, A. Usman, J. Malik, A. Bhurgri, R. Ahmed, S. Muzaffar, N. Kayani, Shahid Pervez, S. H. Hasan Nov 2004

Orbital Embryonal Rhabdomyosarcomain Karachi (1998-2002), Yasmin Bhurgri, A. Mazhar, H. Bhurgri, A. Usman, J. Malik, A. Bhurgri, R. Ahmed, S. Muzaffar, N. Kayani, Shahid Pervez, S. H. Hasan

Department of Pathology and Laboratory Medicine

Objective: To study the epidemiology of ocular Rhabdomyosarcoma (ORMS) in Karachi.

Methods: Incident ORMS cases resident of Karachi, registered at Karachi Cancer Registry (KCR) during 1st January 1998 to 31st December 2002 were included in the study. The data were classified using ICD-O2; computerized with Canreg-3, and analyzed using SPSS 10.0.

Results: Ten cases of ORMS were reported to KCR during 1998-2002. RMS originated in the orbit in eight cases, conjunctiva in one and eyelid in one. Nine cases presented with proptosis, associated with conjunctivitis in four cases. One case presented with eyelid swelling. The crude annual incidence rate was …


Oncolog, Volume 48, Number 03, March 2003, David Galloway, Ann Sutton, Katie Prout Matias, Donna R. Copeland Phd Mar 2003

Oncolog, Volume 48, Number 03, March 2003, David Galloway, Ann Sutton, Katie Prout Matias, Donna R. Copeland Phd

OncoLog MD Anderson's Report to Physicians (All issues)

  • Pediatric Oncologists Search for More Effective Drugs to Treat an ‘Orphan Disease’
  • Collaborative Studies Lead to Better Survival Rates in Young Patients with Rhabdomyosarcoma
  • Protecting the Heart and Gastrointestinal Tract from Treatment-Associated Damage Is an Important Element of Cancer Care
  • House Call: Conquering the Pain of Cancer
  • DiaLog: Recognizing and Treating Cognitive Dysfunctions in Survivors of Childhood Cancers, by Donna R. Copeland, PhD, Professor, Department of Pediatrics


Oncolog, Volume 47, Number 11, November 2002, Mariann Crapanzano, Kerry L. Wright, Frank A. Morello Jr. Md Nov 2002

Oncolog, Volume 47, Number 11, November 2002, Mariann Crapanzano, Kerry L. Wright, Frank A. Morello Jr. Md

OncoLog MD Anderson's Report to Physicians (All issues)

  • Diagnosis Based on Nonsurgical Biopsy: A Cooperative Effort
  • Benign Care: Young Patients with a Variety of Noncancerous Conditions Find Treatment at M.D. Anderson Cancer Center
  • Cognitive Interventions Are Crucial for Many Patients with Neurofibromatosis
  • FNA Clinic Streamlines Biopsy Diagnosis of Palpable Lesions
  • "Is This Going to Hurt?", by Frank A. Morello Jr., MD, Assistant Professor, Section of Vascular and Interventional Radiology
  • House Call: Answers to Common Questions about the Use of Radioisotopes for Diagnosis


Oncolog, Volume 44, Number 09, September 1999, Dawn Chalaire, Alison Rufffin, Vickie J. Williams, Aman Buzdar Md Sep 1999

Oncolog, Volume 44, Number 09, September 1999, Dawn Chalaire, Alison Rufffin, Vickie J. Williams, Aman Buzdar Md

OncoLog MD Anderson's Report to Physicians (All issues)

  • Cautious Approach to Soft Tissue Sarcoma Yields More Favorable Outcomes
  • What's to Eat? Encouraging children to eat well for a healthier future
  • Orthopaedic Surgeons Save Limbs, Restore Function for Patients with Bone Tumors
  • DiaLog: High-Dose Chemotherapy Deserves More Study, by Aman Buzdar, MD, Professor, Department of Breast Medical Oncology
  • House Call: Breast Cancer: Understanding the Risks
  • Protocols: Sarcoma/Osteosarcoma Clinical Trials


Soft Tissue Sarcomas: Pattern Diagnosis Or Entity, Naasha Talati, Shahid Pervez Sep 1998

Soft Tissue Sarcomas: Pattern Diagnosis Or Entity, Naasha Talati, Shahid Pervez

Department of Pathology and Laboratory Medicine

Soft tissue sarcomas (STS) are a diverse and heterogeneous group of tumours The sub-classification of these tumours is of importance for both prognosis and treatment. Classically, sub- categorization is based purely on histomorphological grounds, but as new techniques evolve, a more, conclusive and accurate diagnosis can be made. This study describes the prevalence of soft tissue sarcomas in adults diagnosed at The Aga Khan University Hospital (AKUH) and the impact of immunohistochemistry(IHC) on the precise sub-categorization of these tumours. The study included 364 adults (age 16+) who were diagnosed as soft tissue sarcoma in the past six years (May 1991 …