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1. Papillary tumor of the pineal region: analysis of DNA methylation profiles and clinical outcomes in 76 cases

Author

Wu, Zhichao, Dazelle, Karen, Abdullaev, Zied, Chung, Hye-Jung, Dahiya, Sonika, Wood, Matthew, Lee, Han, Lucas, Calixto-Hope G., Mao, Qinwen, Robinson, Lorraina, Fernandes, Igor, McCord, Matthew, Pytel, Peter, Conway, Kyle S., Yoda, Rebecca, Eschbacher, Jennifer M., Maher, Ossama M., Hasselblatt, Martin, Mobley, Bret C., Raisanen, Jack M., Hatanpaa, Kimmo J., Byers, Joshua, Lehman, Norman L., Cimino, Patrick J., Pratt, Drew, Quezado, Martha, and Aldape, Kenneth

Published
2024
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2. Feasibility of functional precision medicine for guiding treatment of relapsed or refractory pediatric cancers

Author

Acanda De La Rocha, Arlet M., Berlow, Noah E., Fader, Maggie, Coats, Ebony R., Saghira, Cima, Espinal, Paula S., Galano, Jeanette, Khatib, Ziad, Abdella, Haneen, Maher, Ossama M., Vorontsova, Yana, Andrade-Feraud, Cristina M., Daccache, Aimee, Jacome, Alexa, Reis, Victoria, Holcomb, Baylee, Ghurani, Yasmin, Rimblas, Lilliam, Guilarte, Tomás R., Hu, Nan, Salyakina, Daria, and Azzam, Diana J.

Published
2024
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3. Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Author

Durno, Carol, Ercan, Ayse Bahar, Bianchi, Vanessa, Edwards, Melissa, Aronson, Melyssa, Galati, Melissa, Atenafu, Eshetu G, Abebe-Campino, Gadi, Al-Battashi, Abeer, Alharbi, Musa, Azad, Vahid Fallah, Baris, Hagit N, Basel, Donald, Bedgood, Raymond, Bendel, Anne, Ben-Shachar, Shay, Blumenthal, Deborah T, Blundell, Maude, Bornhorst, Miriam, Bronsema, Annika, Cairney, Elizabeth, Rhode, Sara, Caspi, Shani, Chamdin, Aghiad, Chiaravalli, Stefano, Constantini, Shlomi, Crooks, Bruce, Das, Anirban, Dvir, Rina, Farah, Roula, Foulkes, William D, Frenkel, Zehavit, Gallinger, Bailey, Gardner, Sharon, Gass, David, Ghalibafian, Mithra, Gilpin, Catherine, Goldberg, Yael, Goudie, Catherine, Hamid, Syed Ahmer, Hampel, Heather, Hansford, Jordan R, Harlos, Craig, Hijiya, Nobuko, Hsu, Saunders, Kamihara, Junne, Kebudi, Rejin, Knipstein, Jeffrey, Koschmann, Carl, Kratz, Christian, Larouche, Valerie, Lassaletta, Alvaro, Lindhorst, Scott, Ling, Simon C, Link, Michael P, De Mola, Rebecca Loret, Luiten, Rebecca, Lurye, Michal, Maciaszek, Jamie L, MagimairajanIssai, Vanan, Maher, Ossama M, Massimino, Maura, McGee, Rose B, Mushtaq, Naureen, Mason, Gary, Newmark, Monica, Nicholas, Garth, Nichols, Kim E, Nicolaides, Theodore, Opocher, Enrico, Osborn, Michael, Oshrine, Benjamin, Pearlman, Rachel, Pettee, Daniel, Rapp, Jan, Rashid, Mohsin, Reddy, Alyssa, Reichman, Lara, Remke, Marc, Robbins, Gabriel, Roy, Sumita, Sabel, Magnus, Samuel, David, Scheers, Isabelle, Schneider, Kami Wolfe, Sen, Santanu, Stearns, Duncan, Sumerauer, David, Swallow, Carol, Taylor, Leslie, Thomas, Gregory, Toledano, Helen, Tomboc, Patrick, Van Damme, An, Winer, Ira, Yalon, Michal, Yen, Lee Yi, Zapotocky, Michal, Zelcer, Shayna, and Ziegler, David S

Subjects
Cancer, Brain Disorders, Clinical Research, Digestive Diseases, Prevention, Brain Cancer, Rare Diseases, Adolescent, Adult, Brain Neoplasms, Child, Child, Preschool, Colorectal Neoplasms, DNA Mismatch Repair, DNA Repair Enzymes, Early Detection of Cancer, Female, Follow-Up Studies, Humans, Male, Neoplastic Syndromes, Hereditary, Population Surveillance, Prognosis, Prospective Studies, Survival Rate, United States, Young Adult, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

PurposeConstitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals.Patients and methodsData were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation.ResultsA total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically (P < .001). Eighty-nine patients were followed prospectively and used for survival analysis. Five-year overall survival (OS) was 90% (95% CI, 78.6 to 100) and 50% (95% CI, 39.2 to 63.7) when cancer was detected asymptomatically and symptomatically, respectively (P = .001). Patient outcome measured by adherence to the surveillance protocol revealed 4-year OS of 79% (95% CI, 54.8 to 90.9) for patients undergoing full surveillance, 55% (95% CI, 28.5 to 74.5) for partial surveillance, and 15% (95% CI, 5.2 to 28.8) for those not under surveillance (P < .0001). Of the 64 low-grade tumors detected, the cumulative likelihood of transformation from low-to high-grade was 81% for GI cancers within 8 years and 100% for gliomas in 6 years.ConclusionSurveillance and early cancer detection are associated with improved OS for individuals with CMMRD.

Published
2021

4. Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor

Author

Lucas, Calixto-Hope G, Gupta, Rohit, Doo, Pamela, Lee, Julieann C, Cadwell, Cathryn R, Ramani, Biswarathan, Hofmann, Jeffrey W, Sloan, Emily A, Kleinschmidt-DeMasters, Bette K, Lee, Han S, Wood, Matthew D, Grafe, Marjorie, Born, Donald, Vogel, Hannes, Salamat, Shahriar, Puccetti, Diane, Scharnhorst, David, Samuel, David, Cooney, Tabitha, Cham, Elaine, Jin, Lee-way, Khatib, Ziad, Maher, Ossama, Chamyan, Gabriel, Brathwaite, Carole, Bannykh, Serguei, Mueller, Sabine, Kline, Cassie N, Banerjee, Anu, Reddy, Alyssa, Taylor, Jennie W, Clarke, Jennifer L, Oberheim Bush, Nancy Ann, Butowski, Nicholas, Gupta, Nalin, Auguste, Kurtis I, Sun, Peter P, Roland, Jarod L, Raffel, Corey, Aghi, Manish K, Theodosopoulos, Philip, Chang, Edward, Hervey-Jumper, Shawn, Phillips, Joanna J, Pekmezci, Melike, Bollen, Andrew W, Tihan, Tarik, Chang, Susan, Berger, Mitchel S, Perry, Arie, and Solomon, David A

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Cancer, Rare Diseases, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Aged, Brain Neoplasms, Child, Female, Humans, Male, Middle Aged, Mutation, Neoplasms, Neuroepithelial, Receptor, Fibroblast Growth Factor, Type 1, Spinal Cord Neoplasms, Young Adult, Rosette-forming glioneuronal tumor, Extraventricular neurocytoma, Dysembryoplastic neuroepithelial tumor, Pilocytic astrocytoma, FGFR1, PIK3CA, Molecular neuropathology, DNA methylation profiling, PIK3R1, Biochemistry and Cell Biology, Neurosciences, Biochemistry and cell biology
Abstract

The FGFR1 gene encoding fibroblast growth factor receptor 1 has emerged as a frequently altered oncogene in the pathogenesis of multiple low-grade neuroepithelial tumor (LGNET) subtypes including pilocytic astrocytoma, dysembryoplastic neuroepithelial tumor (DNT), rosette-forming glioneuronal tumor (RGNT), and extraventricular neurocytoma (EVN). These activating FGFR1 alterations in LGNET can include tandem duplication of the exons encoding the intracellular tyrosine kinase domain, in-frame gene fusions most often with TACC1 as the partner, or hotspot missense mutations within the tyrosine kinase domain (either at p.N546 or p.K656). However, the specificity of these different FGFR1 events for the various LGNET subtypes and accompanying genetic alterations are not well defined. Here we performed comprehensive genomic and epigenomic characterization on a diverse cohort of 30 LGNET with FGFR1 alterations. We identified that RGNT harbors a distinct epigenetic signature compared to other LGNET with FGFR1 alterations, and is uniquely characterized by FGFR1 kinase domain hotspot missense mutations in combination with either PIK3CA or PIK3R1 mutation, often with accompanying NF1 or PTPN11 mutation. In contrast, EVN harbors its own distinct epigenetic signature and is characterized by FGFR1-TACC1 fusion as the solitary pathogenic alteration. Additionally, DNT and pilocytic astrocytoma are characterized by either kinase domain tandem duplication or hotspot missense mutations, occasionally with accompanying NF1 or PTPN11 mutation, but lacking the accompanying PIK3CA or PIK3R1 mutation that characterizes RGNT. The glial component of LGNET with FGFR1 alterations typically has a predominantly oligodendroglial morphology, and many of the pilocytic astrocytomas with FGFR1 alterations lack the biphasic pattern, piloid processes, and Rosenthal fibers that characterize pilocytic astrocytomas with BRAF mutation or fusion. Together, this analysis improves the classification and histopathologic stratification of LGNET with FGFR1 alterations.

Published
2020

5. Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition

Author

Mondal, Gourish, Lee, Julieann C, Ravindranathan, Ajay, Villanueva-Meyer, Javier E, Tran, Quynh T, Allen, Sariah J, Barreto, Jairo, Gupta, Rohit, Doo, Pamela, Van Ziffle, Jessica, Onodera, Courtney, Devine, Patrick, Grenert, James P, Samuel, David, Li, Rong, Metrock, Laura K, Jin, Lee-way, Antony, Reuben, Alashari, Mouied, Cheshier, Samuel, Whipple, Nicholas S, Bruggers, Carol, Raffel, Corey, Gupta, Nalin, Kline, Cassie N, Reddy, Alyssa, Banerjee, Anu, Hall, Matthew D, Mehta, Minesh P, Khatib, Ziad, Maher, Ossama M, Brathwaite, Carole, Pekmezci, Melike, Phillips, Joanna J, Bollen, Andrew W, Tihan, Tarik, Lucas, John T, Broniscer, Alberto, Berger, Mitchel S, Perry, Arie, Orr, Brent A, and Solomon, David A

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Brain Disorders, Rare Diseases, Brain Cancer, Cancer, Genetics, Human Genome, Pediatric, Neurosciences, Orphan Drug, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Antineoplastic Agents, Brain Neoplasms, Carcinoma, Non-Small-Cell Lung, Child, Child, Preschool, Epigenesis, Genetic, ErbB Receptors, Female, Glioma, Humans, Lung Neoplasms, Male, Mutation, Protein Kinase Inhibitors, Bithalamic glioma, Diffuse midline glioma, EGFR, Histone H3, Pediatric cancer, Molecular neuropathology, Tyrosine kinase inhibitor, Afatinib, Osimertinib, Erlotinib, Trametinib, Neurology & Neurosurgery
Abstract

Brain tumors are the most common solid tumors of childhood, and the genetic drivers and optimal therapeutic strategies for many of the different subtypes remain unknown. Here, we identify that bithalamic gliomas harbor frequent mutations in the EGFR oncogene, only rare histone H3 mutation (in contrast to their unilateral counterparts), and a distinct genome-wide DNA methylation profile compared to all other glioma subtypes studied to date. These EGFR mutations are either small in-frame insertions within exon 20 (intracellular tyrosine kinase domain) or missense mutations within exon 7 (extracellular ligand-binding domain) that occur in the absence of accompanying gene amplification. We find these EGFR mutations are oncogenic in primary astrocyte models and confer sensitivity to specific tyrosine kinase inhibitors dependent on location within the kinase domain or extracellular domain. We initiated treatment with targeted kinase inhibitors in four children whose tumors harbor EGFR mutations with encouraging results. This study identifies a promising genomically-tailored therapeutic strategy for bithalamic gliomas, a lethal and genetically distinct brain tumor of childhood.

Published
2020

6. PATH-38. ROSETTE-FORMING GLIONEURONAL TUMOR IS DEFINED BY FGFR1 ACTIVATING ALTERATIONS WITH FREQUENT ACCOMPANYING PI3K AND MAPK PATHWAY MUTATIONS

Author

Calixto-Hope, Lucas, Lee, Julieann, Sloan, Emily, Hofmann, Jeffrey, Van Ziffle, Jessica, Onodera, Courtney, Grenert, James, Devine, Patrick, Kline, Cassie, Banerjee, Anu, Clarke, Jennifer, Taylor, Jennie, Ann Oberheim-Bush, Nancy, Buerki, Robin, Butowski, Nicholas, Chang, Susan, McDermott, Mike, Aghi, Manish, Theodosopoulos, Philip, Hervey-Jumper, Shawn, Berger, Mitchel, Raffel, Corey, Gupta, Nalin, Kleinschmidt-DeMasters, Bette, Wood, Matthew, Grafe, Marjorie, Guo, Hua, Sun, Peter, Torkildson, Joseph, Cooney, Tabitha, Fata, Cynthia, Scharnhorst, David, Samuel, David, Bannykh, Serguei, Khatib, Ziad, Maher, Ossama, Chamyan, Gabriel, Pelaez, Liset, Brathwaite, Carole, Jin, Lee-way, Lechpammer, Mirna, Born, Donald, Vogel, Hannes, Lee, Han, Phillips, Joanna, Pekmezci, Melike, Bollen, Andrew, Tihan, Tarik, Perry, Arie, and Solomon, David

Subjects
Neurosciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

Abstract BACKGROUND Rosette-forming glioneuronal tumor (RGNT) is an uncommon CNS tumor originally described in the fourth ventricle characterized by a low-grade glial neoplasm admixed with a rosette-forming neurocytic component. METHODS We reviewed clinicopathologic features of 42 patients with RGNT. Targeted next-generation sequencing was performed, and genome-wide methylation profiling is underway. RESULTS The 20 male and 22 female patients had a mean age of 25 years (range 3–47) at time of diagnosis. Tumors were located within or adjacent to the lateral ventricle (n=16), fourth ventricle (15), third ventricle (9), and spinal cord (2). All 31 tumors assessed to date contained FGFR1 activating alterations, either in-frame gene fusion, kinase domain tandem duplication, or hotspot missense mutation in the kinase domain (p.N546 or p.K656). While 7 of these 31 tumors harbored FGFR1 alterations as the solitary pathogenic event, 24 contained additional pathogenic alterations within PI3-kinase or MAP kinase pathway genes: 5 with additional PIK3CA and NF1 mutations, 4 with PIK3CA mutation, 3 with PIK3R1 mutation (one of which also contained focal RAF1 amplification), 5 with PTPN11 mutation (one with additional PIK3R1 mutation), and 2 with NF1 deletion. The other 5 cases demonstrated anaplastic features including hypercellularity and increased mitotic activity. Among these anaplastic cases, 3 harbored inactivating ATRX mutations and two harbored CDKN2A homozygous deletion, in addition to the FGFR1 alterations plus other PI3-kinase and MAP kinase gene mutations seen in those RGNT without anaplasia. CONCLUSION Independent of ventricular location, RGNT is defined by FGFR1 activating mutations or rearrangements, which are frequently accompanied by mutations involving PIK3CA, PIK3R1, PTPN11, NF1, and KRAS. Whereas pilocytic astrocytoma and ganglioglioma are characterized by solitary activating MAP kinase pathway alterations (e.g. BRAF fusion or mutation), RGNT are genetically more complex with dual PI3K-Akt-mTOR and Ras-Raf-MAPK pathway activation. Rare anaplastic examples may show additional ATRX and/or CDKN2A inactivation.

Published
2019

7. The genetic landscape of ganglioglioma

Author

Pekmezci, Melike, Villanueva-Meyer, Javier E, Goode, Benjamin, Van Ziffle, Jessica, Onodera, Courtney, Grenert, James P, Bastian, Boris C, Chamyan, Gabriel, Maher, Ossama M, Khatib, Ziad, Kleinschmidt-DeMasters, Bette K, Samuel, David, Mueller, Sabine, Banerjee, Anuradha, Clarke, Jennifer L, Cooney, Tabitha, Torkildson, Joseph, Gupta, Nalin, Theodosopoulos, Philip, Chang, Edward F, Berger, Mitchel, Bollen, Andrew W, Perry, Arie, Tihan, Tarik, and Solomon, David A

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Biotechnology, Cancer, Human Genome, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Brain Neoplasms, Child, Child, Preschool, Cohort Studies, Cyclin-Dependent Kinase Inhibitor p16, Female, Ganglioglioma, Genetic Association Studies, Humans, Male, Middle Aged, Mitogen-Activated Protein Kinase 1, Mutation, Proto-Oncogene Proteins B-raf, Signal Transduction, Statistics, Nonparametric, Young Adult, Epilepsy, Seizures, Glioneuronal tumor, Targeted next-generation sequencing, Ras-Raf-MEK-ERK, MAP kinase signaling pathway, BRAF, KRAS, RAF1, NF1, FGFR1, FGFR2, ABL2, Biochemistry and Cell Biology, Clinical Sciences, Neurosciences, Biochemistry and cell biology
Abstract

Ganglioglioma is the most common epilepsy-associated neoplasm that accounts for approximately 2% of all primary brain tumors. While a subset of gangliogliomas are known to harbor the activating p.V600E mutation in the BRAF oncogene, the genetic alterations responsible for the remainder are largely unknown, as is the spectrum of any additional cooperating gene mutations or copy number alterations. We performed targeted next-generation sequencing that provides comprehensive assessment of mutations, gene fusions, and copy number alterations on a cohort of 40 gangliogliomas. Thirty-six harbored mutations predicted to activate the MAP kinase signaling pathway, including 18 with BRAF p.V600E mutation, 5 with variant BRAF mutation (including 4 cases with novel in-frame insertions at p.R506 in the β3-αC loop of the kinase domain), 4 with BRAF fusion, 2 with KRAS mutation, 1 with RAF1 fusion, 1 with biallelic NF1 mutation, and 5 with FGFR1/2 alterations. Three gangliogliomas with BRAF p.V600E mutation had concurrent CDKN2A homozygous deletion and one additionally harbored a subclonal mutation in PTEN. Otherwise, no additional pathogenic mutations, fusions, amplifications, or deletions were identified in any of the other tumors. Amongst the 4 gangliogliomas without canonical MAP kinase pathway alterations identified, one epilepsy-associated tumor in the temporal lobe of a young child was found to harbor a novel ABL2-GAB2 gene fusion. The underlying genetic alterations did not show significant association with patient age or disease progression/recurrence in this cohort. Together, this study highlights that ganglioglioma is characterized by genetic alterations that activate the MAP kinase pathway, with only a small subset of cases that harbor additional pathogenic alterations such as CDKN2A deletion.

Published
2018

10. PATH-07. MULTIPLATFORM MOLECULAR ANALYSES REFINE CLASSIFICATION AND PROGNOSTICATION OF GLIOMAS ARISING IN PATIENTS WITH NEUROFIBROMATOSIS TYPE 1

Author

Lucas, Calixto-Hope, primary, Sloan, Emily, additional, Jung, Jangham, additional, Gupta, Rohit, additional, Wu, Jasper, additional, Vasudevan, Harish, additional, Shai, Anny, additional, Whipple, Nicholas, additional, Bruggers, Carol, additional, Samuel, David, additional, Maher, Ossama, additional, Lu, Rufei, additional, Mirchia, Kanish, additional, Sullivan, Daniel, additional, Pekmezci, Melike, additional, Tihan, Tarik, additional, Bollen, Andrew, additional, Perry, Arie, additional, Banerjee, Anu, additional, Gupta, Nalin, additional, Mueller, Sabine, additional, de Groot, John, additional, Clarke, Jennifer, additional, Raleigh, David, additional, Phillips, Joanna J, additional, Reddy, Alyssa, additional, Chang, Susan M, additional, Berger, Mitchel S, additional, Diaz, Aaron, additional, and Solomon, David A, additional

Published
2022
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11. Abstract 4103: Feasibility and efficacy of a functional precision medicine approach in the management of relapsed/refractory childhood cancers

Author

Acanda de la Rocha, Arlet Maria, primary, Fader, Maggie, additional, Coats, Ebony, additional, Dunn, Joseph, additional, Perez, Leat, additional, Saghira, Cima, additional, Sotto, Ileana, additional, Khatib, Ziad, additional, Maher, Ossama, additional, Abdella, Haneen, additional, Andrade-Feraud, Cristina M., additional, Jacome, Alexa, additional, Rimblas, Lilliam, additional, Espinal, Paula S., additional, Guilarte, Tomás R., additional, McCafferty-Fernandez, Jennifer, additional, Salyakina, Daria, additional, and Azzam, Diana J., additional

Published
2022
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14. RONC-13. Change in hippocampus volume as a function of radiation dose: Results from a prospective trial with standardized imaging and morphometric evaluation

Author

Hall, Matthew, primary, Odia, Yazmin, additional, Von Werne, Katherine, additional, Niazi, Toba, additional, Maher, Ossama, additional, Khatib, Ziad, additional, Mohler, Alexander, additional, Kotecha, Rupesh, additional, Kalman, Noah, additional, Tom, Martin, additional, Abrams, Kevin, additional, Naidoo, Reshma, additional, Chuong, Michael, additional, Wroe, Andrew, additional, Gutierrez, Alonso, additional, and Mehta, Minesh, additional

Published
2022
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17. Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Author

UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, Durno, Carol, Ercan, Ayse Bahar, Bianchi, Vanessa, Edwards, Melissa, Aronson, Melyssa, Galati, Melissa, Atenafu, Eshetu G., Abebe-Campino, Gadi, Al-Battashi, Abeer, Alharbi, Musa, Azad, Vahid Fallah, Baris, Hagit N., Basel, Donald, Bedgood, Raymond, Bendel, Anne, Ben-Shachar, Shay, Blumenthal, Deborah T., Blundell, Maude, Bornhorst, Miriam, Bronsema, Annika, Cairney, Elizabeth, Rhode, Sara, Caspi, Shani, Chamdin, Aghiad, Chiaravalli, Stefano, Constantini, Shlomi, Crooks, Bruce, Das, Anirban, Dvir, Rina, Farah, Roula, Foulkes, William D., Frenkel, Zehavit, Gallinger, Bailey, Gardner, Sharon, Gass, David, Ghalibafian, Mithra, Gilpin, Catherine, Goldberg, Yael, Goudie, Catherine, Hamid, Syed Ahmer, Hampel, Heather, Hansford, Jordan R., Harlos, Craig, Hijiya, Nobuko, Hsu, Saunders, Kamihara, Junne, Kebudi, Rejin, Knipstein, Jeffrey, Koschmann, Carl, Kratz, Christian, Larouche, Valerie, Lassaletta, Alvaro, Lindhorst, Scott, Ling, Simon C., Link, Michael P., Loret De Mola, Rebecca, Luiten, Rebecca, Lurye, Michal, Maciaszek, Jamie L., MagimairajanIssai, Vanan, Maher, Ossama M., Massimino, Maura, McGee, Rose B., Mushtaq, Naureen, Mason, Gary, Newmark, Monica, Nicholas, Garth, Nichols, Kim E., Nicolaides, Theodore, Opocher, Enrico, Osborn, Michael, Oshrine, Benjamin, Pearlman, Rachel, Pettee, Daniel, Rapp, Jan, Rashid, Mohsin, Reddy, Alyssa, Reichman, Lara, Remke, Marc, Robbins, Gabriel, Roy, Sumita, Sabel, Magnus, Samuel, David, Scheers, Isabelle, Schneider, Kami Wolfe, Sen, Santanu, Stearns, Duncan, Sumerauer, David, Swallow, Carol, Taylor, Leslie, Thomas, Gregory, Toledano, Helen, Tomboc, Patrick, Van Damme, An, Winer, Ira, Yalon, Michal, Yen, Lee Yi, Zapotocky, Michal, Zelcer, Shayna, Ziegler, David S., Zimmermann, Stefanie, Hawkins, Cynthia, Malkin, David, Bouffet, Eric, Villani, Anita, Tabori, Uri, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, Durno, Carol, Ercan, Ayse Bahar, Bianchi, Vanessa, Edwards, Melissa, Aronson, Melyssa, Galati, Melissa, Atenafu, Eshetu G., Abebe-Campino, Gadi, Al-Battashi, Abeer, Alharbi, Musa, Azad, Vahid Fallah, Baris, Hagit N., Basel, Donald, Bedgood, Raymond, Bendel, Anne, Ben-Shachar, Shay, Blumenthal, Deborah T., Blundell, Maude, Bornhorst, Miriam, Bronsema, Annika, Cairney, Elizabeth, Rhode, Sara, Caspi, Shani, Chamdin, Aghiad, Chiaravalli, Stefano, Constantini, Shlomi, Crooks, Bruce, Das, Anirban, Dvir, Rina, Farah, Roula, Foulkes, William D., Frenkel, Zehavit, Gallinger, Bailey, Gardner, Sharon, Gass, David, Ghalibafian, Mithra, Gilpin, Catherine, Goldberg, Yael, Goudie, Catherine, Hamid, Syed Ahmer, Hampel, Heather, Hansford, Jordan R., Harlos, Craig, Hijiya, Nobuko, Hsu, Saunders, Kamihara, Junne, Kebudi, Rejin, Knipstein, Jeffrey, Koschmann, Carl, Kratz, Christian, Larouche, Valerie, Lassaletta, Alvaro, Lindhorst, Scott, Ling, Simon C., Link, Michael P., Loret De Mola, Rebecca, Luiten, Rebecca, Lurye, Michal, Maciaszek, Jamie L., MagimairajanIssai, Vanan, Maher, Ossama M., Massimino, Maura, McGee, Rose B., Mushtaq, Naureen, Mason, Gary, Newmark, Monica, Nicholas, Garth, Nichols, Kim E., Nicolaides, Theodore, Opocher, Enrico, Osborn, Michael, Oshrine, Benjamin, Pearlman, Rachel, Pettee, Daniel, Rapp, Jan, Rashid, Mohsin, Reddy, Alyssa, Reichman, Lara, Remke, Marc, Robbins, Gabriel, Roy, Sumita, Sabel, Magnus, Samuel, David, Scheers, Isabelle, Schneider, Kami Wolfe, Sen, Santanu, Stearns, Duncan, Sumerauer, David, Swallow, Carol, Taylor, Leslie, Thomas, Gregory, Toledano, Helen, Tomboc, Patrick, Van Damme, An, Winer, Ira, Yalon, Michal, Yen, Lee Yi, Zapotocky, Michal, Zelcer, Shayna, Ziegler, David S., Zimmermann, Stefanie, Hawkins, Cynthia, Malkin, David, Bouffet, Eric, Villani, Anita, and Tabori, Uri

Abstract

Purpose: Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. Patients and methods: Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation. Results: A total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically (P < .001). Eighty-nine patients were followed prospectively and used for survival analysis. Five-year overall survival (OS) was 90% (95% CI, 78.6 to 100) and 50% (95% CI, 39.2 to 63.7) when cancer was detected asymptomatically and symptomatically, respectively (P = .001). Patient outcome measured by adherence to the surveillance protocol revealed 4-year OS of 79% (95% CI, 54.8 to 90.9) for patients undergoing full surveillance, 55% (95% CI, 28.5 to 74.5) for partial surveillance, and 15% (95% CI, 5.2 to 28.8) for those not under surveillance (P < .0001). Of the 64 low-grade tumors detected, the cumulative likelihood of transformation from low-to high-grade was 81% for GI cancers within 8 years and 100% for gliomas in 6 years. Conclusion: Surveillance and early cancer detection are associated with improved OS for individuals with CMMRD.

Published
2021

18. Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Durno, Carol, Ercan, Ayse Bahar, Bianchi, Vanessa, Edwards, Melissa, Aronson, Melyssa, Galati, Melissa, Atenafu, Eshetu G., Abebe-Campino, Gadi, Al-Battashi, Abeer, Alharbi, Musa, Azad, Vahid Fallah, Baris, Hagit N., Basel, Donald, Bedgood, Raymond, Bendel, Anne, Ben-Shachar, Shay, Blumenthal, Deborah T., Blundell, Maude, Bornhorst, Miriam, Bronsema, Annika, Cairney, Elizabeth, Rhode, Sara, Caspi, Shani, Chamdin, Aghiad, Chiaravalli, Stefano, Constantini, Shlomi, Crooks, Bruce, Das, Anirban, Dvir, Rina, Farah, Roula, Foulkes, William D., Frenkel, Zehavit, Gallinger, Bailey, Gardner, Sharon, Gass, David, Ghalibafian, Mithra, Gilpin, Catherine, Goldberg, Yael, Goudie, Catherine, Hamid, Syed Ahmer, Hampel, Heather, Hansford, Jordan R., Harlos, Craig, Hijiya, Nobuko, Hsu, Saunders, Kamihara, Junne, Kebudi, Rejin, Knipstein, Jeffrey, Koschmann, Carl, Kratz, Christian, Larouche, Valerie, Lassaletta, Alvaro, Lindhorst, Scott, Ling, Simon C., Link, Michael P., Loret De Mola, Rebecca, Luiten, Rebecca, Lurye, Michal, Maciaszek, Jamie L., MagimairajanIssai, Vanan, Maher, Ossama M., Massimino, Maura, McGee, Rose B., Mushtaq, Naureen, Mason, Gary, Newmark, Monica, Nicholas, Garth, Nichols, Kim E., Nicolaides, Theodore, Opocher, Enrico, Osborn, Michael, Oshrine, Benjamin, Pearlman, Rachel, Pettee, Daniel, Rapp, Jan, Rashid, Mohsin, Reddy, Alyssa, Reichman, Lara, Remke, Marc, Robbins, Gabriel, Roy, Sumita, Sabel, Magnus, Samuel, David, Scheers, Isabelle, Schneider, Kami Wolfe, Sen, Santanu, Stearns, Duncan, Sumerauer, David, Swallow, Carol, Taylor, Leslie, Thomas, Gregory, Toledano, Helen, Tomboc, Patrick, Van Damme, An, Winer, Ira, Yalon, Michal, Yen, Lee Yi, Zapotocky, Michal, Zelcer, Shayna, Ziegler, David S., Zimmermann, Stefanie, Hawkins, Cynthia, Malkin, David, Bouffet, Eric, Villani, Anita, Tabori, Uri, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Durno, Carol, Ercan, Ayse Bahar, Bianchi, Vanessa, Edwards, Melissa, Aronson, Melyssa, Galati, Melissa, Atenafu, Eshetu G., Abebe-Campino, Gadi, Al-Battashi, Abeer, Alharbi, Musa, Azad, Vahid Fallah, Baris, Hagit N., Basel, Donald, Bedgood, Raymond, Bendel, Anne, Ben-Shachar, Shay, Blumenthal, Deborah T., Blundell, Maude, Bornhorst, Miriam, Bronsema, Annika, Cairney, Elizabeth, Rhode, Sara, Caspi, Shani, Chamdin, Aghiad, Chiaravalli, Stefano, Constantini, Shlomi, Crooks, Bruce, Das, Anirban, Dvir, Rina, Farah, Roula, Foulkes, William D., Frenkel, Zehavit, Gallinger, Bailey, Gardner, Sharon, Gass, David, Ghalibafian, Mithra, Gilpin, Catherine, Goldberg, Yael, Goudie, Catherine, Hamid, Syed Ahmer, Hampel, Heather, Hansford, Jordan R., Harlos, Craig, Hijiya, Nobuko, Hsu, Saunders, Kamihara, Junne, Kebudi, Rejin, Knipstein, Jeffrey, Koschmann, Carl, Kratz, Christian, Larouche, Valerie, Lassaletta, Alvaro, Lindhorst, Scott, Ling, Simon C., Link, Michael P., Loret De Mola, Rebecca, Luiten, Rebecca, Lurye, Michal, Maciaszek, Jamie L., MagimairajanIssai, Vanan, Maher, Ossama M., Massimino, Maura, McGee, Rose B., Mushtaq, Naureen, Mason, Gary, Newmark, Monica, Nicholas, Garth, Nichols, Kim E., Nicolaides, Theodore, Opocher, Enrico, Osborn, Michael, Oshrine, Benjamin, Pearlman, Rachel, Pettee, Daniel, Rapp, Jan, Rashid, Mohsin, Reddy, Alyssa, Reichman, Lara, Remke, Marc, Robbins, Gabriel, Roy, Sumita, Sabel, Magnus, Samuel, David, Scheers, Isabelle, Schneider, Kami Wolfe, Sen, Santanu, Stearns, Duncan, Sumerauer, David, Swallow, Carol, Taylor, Leslie, Thomas, Gregory, Toledano, Helen, Tomboc, Patrick, Van Damme, An, Winer, Ira, Yalon, Michal, Yen, Lee Yi, Zapotocky, Michal, Zelcer, Shayna, Ziegler, David S., Zimmermann, Stefanie, Hawkins, Cynthia, Malkin, David, Bouffet, Eric, Villani, Anita, and Tabori, Uri

Abstract

Purpose: Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. Patients and methods: Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation. Results: A total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically (P < .001). Eighty-nine patients were followed prospectively and used for survival analysis. Five-year overall survival (OS) was 90% (95% CI, 78.6 to 100) and 50% (95% CI, 39.2 to 63.7) when cancer was detected asymptomatically and symptomatically, respectively (P = .001). Patient outcome measured by adherence to the surveillance protocol revealed 4-year OS of 79% (95% CI, 54.8 to 90.9) for patients undergoing full surveillance, 55% (95% CI, 28.5 to 74.5) for partial surveillance, and 15% (95% CI, 5.2 to 28.8) for those not under surveillance (P < .0001). Of the 64 low-grade tumors detected, the cumulative likelihood of transformation from low-to high-grade was 81% for GI cancers within 8 years and 100% for gliomas in 6 years. Conclusion: Surveillance and early cancer detection are associated with improved OS for individuals with CMMRD.

Published
2021

20. RARE-17. SURVIVAL BENEFIT FOR INDIVIDUALS WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME AND BRAIN TUMORS WHO UNDERGO SURVEILLANCE PROTOCOL. A REPORT FROM THE INTERNATIONAL REPLICATION REPAIR CONSORTIUM

Author

Ercan, Ayse Bahar, primary, Durno, Carol, additional, Bianchi, Vanessa J, additional, Edwards, Melissa, additional, Aronson, Melyssa, additional, Bouffet, Eric, additional, Al-Battashi, Abeer, additional, Alharbi, Musa, additional, Basel, Donald, additional, Bedgood, Raymond, additional, Bendel, Anne, additional, Blumenthal, Deborah T, additional, Bornhorst, Miriam, additional, Bronsema, Annika, additional, Cairney, Elizabeth, additional, Carroll, Sara, additional, Chamdin, Aghiad, additional, Chiaravalli, Stefano, additional, Constantini, Shlomi, additional, Das, Anirban, additional, Dvir, Rina, additional, Farah, Roula, additional, Foulkes, William, additional, Frenkel, Zehavit, additional, Gardner, Sharon, additional, Ghalibafian, Mithra, additional, Gilpin, Cathy, additional, Goudie, Catherine, additional, Hamid, Syed Ahmer, additional, Hansford, Jordan, additional, Harlos, Craig, additional, Hijiya, Nobuko, additional, Hsu, Saunders, additional, Kamihara, Junne, additional, Knipstein, Jeffrey, additional, Koschmann, Carl, additional, Larouche, Valerie, additional, Lassaletta, Alvaro, additional, Lindhorst, Scott, additional, Ling, Simon, additional, Link, Michael, additional, De Mola, Rebecca Loret, additional, Luiten, Rebecca, additional, Lurye, Michal, additional, Maciaszek, Jamie, additional, Magimairajan, Vanan, additional, Maher, Ossama, additional, Massimino, Maura, additional, Mushtaq, Naureen, additional, Newmark, Monica, additional, Nicholas, Garth, additional, Nichols, Kim, additional, Nicolaides, Theodore, additional, Opocher, Enrico, additional, Osborn, Michael, additional, Oshrine, Benjamin, additional, Pearlman, Rachel, additional, Pettee, Daniel, additional, Rapp, Jan, additional, Rashid, Mohsin, additional, Reddy, Alyssa, additional, Reichman, Lara, additional, Remke, Marc, additional, Robbins, Gabriel, additional, Sabel, Magnus, additional, Samuel, David, additional, Scheers, Isabelle, additional, Sen, Santanu, additional, Stearns, Duncan, additional, Sumerauer, David, additional, Swallow, Carol, additional, Taylor, Leslie, additional, Toledano, Helen, additional, Tomboc, Patrick, additional, Van Damme, An, additional, Winer, Ira, additional, Yalon, Michal, additional, Yen, Lee Yi, additional, Zapotocky, Michal, additional, Azad, Vahid Fallah, additional, Zelcer, Shayna, additional, Ziegler, David, additional, Zimmerman, Stefanie, additional, and Tabori, Uri, additional

Published
2020
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23. A Case of UDP-Galactose 4′-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway

Author

Febres-Aldana, Christopher A., primary, Pelaez, Liset, additional, Wright, Meredith S., additional, Maher, Ossama M., additional, Febres-Aldana, Anthony J., additional, Sasaki, Jun, additional, Jayakar, Parul, additional, Jayakar, Anuj, additional, Diaz-Barbosa, Magaly, additional, Janvier, Michelin, additional, Totapally, Bala, additional, Salyakina, Daria, additional, and Galvez-Silva, Jorge R., additional

Published
2020
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24. Additional file 2: of The genetic landscape of ganglioglioma

Author

Pekmezci, Melike, Villanueva-Meyer, Javier, Goode, Benjamin, Ziffle, Jessica Van, Onodera, Courtney, Grenert, James, Bastian, Boris, Chamyan, Gabriel, Maher, Ossama, Khatib, Ziad, Kleinschmidt-DeMasters, Bette, Samuel, David, Mueller, Sabine, Banerjee, Anuradha, Clarke, Jennifer, Cooney, Tabitha, Torkildson, Joseph, Nalin Gupta, Theodosopoulos, Philip, Chang, Edward, Berger, Mitchel, Bollen, Andrew, Perry, Arie, Tihan, Tarik, and Solomon, David

Abstract

Figures S1-S2. (PDF 7457 kb)

Published
2018
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26. HGG-14. PEDIATRIC BITHALAMIC DIFFUSE GLIOMAS ARE DISTINGUISHED FROM THEIR UNILATERAL COUNTERPARTS BY FREQUENT EGFR EXON 20 INSERTIONS AND RARE HISTONE H3 MUTATIONS

Author

Lee, Julieann, primary, Ferris, Sean, additional, Sloan, Emily, additional, Hofmann, Jeff, additional, Samuel, David, additional, Scharnhorst, David, additional, Siongco, Aleli, additional, Li, Rong, additional, Jin, Lee-way, additional, Antony, Reuben, additional, Alashari, Mouied, additional, Cheshier, Samuel, additional, Whipple, Nicholas, additional, Bruggers, Carol, additional, Raffel, Corey, additional, Gupta, Nalin, additional, Kline, Cassie, additional, Reddy, Alyssa, additional, Banerjee, Anu, additional, Khatib, Ziad, additional, Maher, Ossama, additional, Brathwaite, Carole, additional, Pekmezci, Melike, additional, Bollen, Andrew, additional, Tihan, Tarik, additional, Perry, Arie, additional, and Solomon, David, additional

Published
2019
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27. 383 - Florida Pediatric Bone Marrow Transplant and Cell Therapy Consortium (FPBCC) Outcomes of Children with Sickle Cell Disease (SCD) and Transfusion Dependent Thalassemia (TDT)

Author

Silva, Jorge Galvez, Oshrine, Benjamin, Ziga, Edward, Joyce, Michael, Castillo, Paul, Alperstein, Warren, Vandy, Black, Jerome Clay, E. Leila, Maher, Ossama M., Godder, Kamar, Pefkarou, Athena, Cline, Jessica, Yang, Fan, Zhao, Jing, Horn, Biljana, and Chellapandian, Deepak

Published
2021
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30. DIPG-42. CAN WE CHANGE THE LANDSCAPE OF PEDIATRIC DIFFUSE INTRINSIC PONTINE GLIOMA (DIPG)? FIRST DEMONSTRATION OF CLINICAL AND RADIOGRAPHIC RESPONSE IN A PEDIATRIC H3-K27M MUTATED DIPG TO THE DRD2-ANTAGONIST ONC201

Author

Hall, Matthew, primary, Odia, Yazmin, additional, Allen, Joshua, additional, Tarapore, Rohinton, additional, Khatib, Ziad, additional, Maher, Ossama, additional, Niazi, Toba, additional, Daghistani, Doured, additional, Schalop, Lee, additional, Chi, Andrew, additional, Oster, Wolfgang, additional, and Mehta, Minesh, additional

Published
2018
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31. High TCR Vbeta Skewing in CD4+ and Low in CD8+ Is Associated with Development of Chronic Graft-Versus-Host Disease

Author

Maher, Ossama M., primary, Saliba, Rima M, additional, Alousi, Amin M., additional, Champlin, Richard E., additional, Shpall, Elizabeth J., additional, Tewari, Priti, additional, Hymes, Sharon R, additional, Neumann, Joyce L, additional, Overman, Bethany J, additional, Chen, Julianne, additional, Rondon, Gabriela, additional, Song, Hyo W, additional, Hofferek, Colby J, additional, and Tran, Dat Q, additional

Published
2016
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36. Clinical Profile and Outcome among Infants of Diabetic Mothers Delivered At the Brooklyn Hospital Center

Author

Uchendu, Uchendu O., Leblanc, Patrick, Thomas, Jude M., Maher, Ossama M., Morales, Yesenia, Fineza, Belen, Uchendu, Uchendu O., Leblanc, Patrick, Thomas, Jude M., Maher, Ossama M., Morales, Yesenia, and Fineza, Belen

Abstract

Background: Diabetes mellitus (DM) is the commonest complication of pregnancy, negatively impacting mothers and fetuses. Few studies suggest amelioration of negative outcomes of DM-associated pregnancies in recent years, due in part to improved care. But increasing prevalence of overweight in developed countries is also affecting many women of childbearing age with concomitant poor glycemic control especially in pregnancy. Hyperglycemia, even at sub-diabetic levels, is associated with increased risk of macrosomia and Cesarean section. There is evidence demonstrating that outcomes of DM-associated pregnancies are similar with those characterized by hyperglycemia of sub-diabetic levels. Perhaps, improvement of care for DM-associated pregnancies on one hand, and the impact of obesity epidemic may have changed the relative frequencies of negative outcomes typically reported for infants of diabetic mothers (IDMs) compared with controls.Aims/Objective: We re-evaluated the relative frequencies of negative outcomes of pregnancies complicated by DM compared with non-diabetic pregnancies.Method/Design: A retrospective cohort analysis was conducted.Result: There were 50 diabetic and 83 non-diabetic mother-infant pairs. Mothers with DM-associated pregnancies had increased risk of delivery by C/Sxn, macrosomic babies, admission to NICU and prolonged hospitalization. Only IDMs had documented birth defects. Notable improvements over previous studies for IDMs include similar gestational ages at delivery and excellent APGAR scores in both groups.Conclusion: IDMs still have higher frequencies of negative outcomes compared with controls but some improvements are noteworthy and should provide impetus for efforts at reducing prevalence of obesity while improving care for DM-associated pregnancies.

Published
2014

38. Florida Pediatric Bone Marrow Transplant and Cell Therapy Consortium (FPBCC) Outcomes of Children with Sickle Cell Disease (SCD) and Transfusion Dependent Thalassemia (TDT)

Author

Silva, Jorge Galvez, Oshrine, Benjamin, Ziga, Edward, Joyce, Michael, Castillo, Paul, Alperstein, Warren, Vandy, Black, Jerome Clay, E. Leila, Maher, Ossama M., Godder, Kamar, Pefkarou, Athena, Cline, Jessica, Yang, Fan, Zhao, Jing, Horn, Biljana, and Chellapandian, Deepak

Published
2021
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