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39 results on '"Maher, Ossama M."'

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. 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

5. 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

7. Hematopoietic Stem Cell Transplantation in Children with Sickle Cell Disease and Thalassemia Major: A National Database Study: Stem Cell Transplantation for Hemoglobinopathies in Children.

Author

De Avila, Camila, Martinez, Paul A., Sendi, Prithvi, Galvez Silva, Jorge R., Maher, Ossama M., and Totapally, Balagangadhar R.

Subjects
SICKLE cell anemia, CELL transplantation, HOSPITAL care of children, BETA-Thalassemia, HOSPITAL charges
Abstract

In patients with sickle cell disease (SCD) and beta-thalassemia major (TM), allogeneic hematopoietic stem cell transplantation (HSCT) was considered the only curative treatment option with a good survival rate. However, with the recent approval of gene therapies, more information is needed to understand the benefits and risks of these interventions. We performed a retrospective analysis of the Kids Inpatient Database to describe demographic features, short-term complications, and hospital charges of patients with SCD and TM treated with HSCT during 2006–2019 in the United States. The database was filtered using the International Classification of Diseases, 9th and 10th edition codes to identify children under 20 years of age with SCD or TM who underwent HSCT. A total of 513 children with SCD or TM who received HSCT were analyzed. The prevalence of HSCT per 1000,000 U.S. population increased from 0.31 in 2006 to 1.99 in 2019 (p < 0.001). The median age of children with SCD who underwent HSCT was 10 (6–15) years, and that for TM was 6 (3–11.5) years (p < 0.001). The combined mortality rate was 4% (2.4%–6.6%) but higher in the TM group. The length-of-stay and total charges were higher in the TM population (p < 0.01). This study provides national data on HSCT among hospitalized children with SCD and TM in the United States, demonstrating an increasing use of HSCT between 2006 and 2019. Although hospital mortality of HSCT in these conditions is low, it still represents a challenge, especially in TM patients. [ABSTRACT FROM AUTHOR]

Published
2024
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19. 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

20. 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

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

Published
2021
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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. 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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27. Outcomes of children, adolescents, and young adults following allogeneic stem cell transplantation for secondary acute myeloid leukemia and myelodysplastic syndromes-The MD Anderson Cancer Center experience

Author

Maher, Ossama M., primary, Silva, Jorge Galvez, additional, Wu, Jimin, additional, Liu, Diane, additional, Cooper, Laurence J.N., additional, Tarek, Nidale, additional, Worth, Laura, additional, Lee, Dean A., additional, Petropoulos, Demetrios, additional, Franklin, Anna R.K., additional, Zweidler-Mckay, Patrick, additional, Wells, Robert J., additional, Rondon, Gabriela, additional, Champlin, Richard E., additional, and Tewari, Priti, additional

Published
2017
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28. 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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35. 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

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