Kami Wolfe Schneider

Otolaryngologic evaluation and management of nasal chondromesenchymal hamartoma

John W Hunsicker, Megan S. Ballard, Ashoke Khanwalkar, Todd M. Wine et autres

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Updated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism–Jaw Tumor Syndrome, and Carney Complex

Jonathan D. Wasserman, Kami Wolfe Schneider, Maria Isabel Achatz, Yoshiko Nakano et autres

Hereditary endocrine neoplasia syndromes comprise multiple entities associated with an increased risk for the development of endocrine and nonendocrine neoplasms and other systemic manifestations. These syndromes typically demonstrate autosomal dominant inheritance, and each syndrome is associated with a unique genetic predisposition to …

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Update on Tumor Surveillance for Children with Hereditary Pheochromocytoma/Paraganglioma Syndromes

Surya P. Rednam, Junne Kamihara, Kerri Becktell, Garrett M. Brodeur et autres

Hereditary pheochromocytoma/paraganglioma syndromes (HPPS) are a collection of conditions caused by variants in genes producing subunits of the succinate dehydrogenase (SDH) complex or related proteins. These conditions are characterized by substantial lifetime risks for developing pheochromocytomas, paragangliomas, and other tumors. Affected individuals …

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46P Time to next treatment by age subgroup in patients (pts) with primary advanced or recurrent endometrial cancer (pA/rEC) in the ENGOT-EN6-NSGO/GOG-3031/RUBY trial

Ilana Cass, J. Herrstedt, Amanda Jackson, Vladyslav Sukhin et autres

Dostarlimab + carboplatin-paclitaxel (DOST+CP) is the only immunotherapy + chemotherapy combination to report significant overall survival (OS) benefits vs placebo (PBO) + CP in pts with pA/rEC as shown in Part 1 of the phase III RUBY trial (NCT03981796). Benefits in prolonged …

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Call to action for genetic counseling research in hereditary cancer: Considerations from the evidence‐based guidelines development process

Brooke Levin, Erin Salo‐Mullen, Julie O. Culver, Raluca Kurz et autres

The National Society of Genetic Counselors (NSGC) planned to develop an evidence-based guideline on the outcomes of genetic counseling for individuals at risk for hereditary cancer. The practice guideline workgroup used Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology including ranking …

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Update on Surveillance in Von Hippel–Lindau Disease

Surya P. Rednam, Kerri Becktell, Anita Villani, Garrett M. Brodeur et autres

Von Hippel-Lindau disease (VHL) is a genetic condition characterized by a high lifetime risk for tumors and cysts throughout the body, including the central nervous system, visual-auditory systems, and intra-abdominal organs. This neoplasia leads to significant morbidity and potential mortality in affected …

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Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes

Orli Michaeli, Sun Young Kim, Sarah G. Mitchell, Marjolijn C.J. Jongmans et autres

The management of children with syndromes associated with an increased risk of benign and malignant neoplasms is a complex challenge for health care professionals. The 2023 American Association for Cancer Research Childhood Cancer Predisposition Workshop provided updated consensus guidelines on cancer surveillance …

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Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1- Related Tumor Predisposition, and Tuberous Sclerosis Complex

Kris Ann P. Schultz, Suzanne P. MacFarland, Melissa R. Perrino, Sarah G. Mitchell et autres

Phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex are rare conditions, which each increases risk for distinct spectra of benign and malignant neoplasms throughout childhood and adulthood. Surveillance considerations for each of these conditions focus on …

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731P Post-progression survival outcomes in patients (pts) with primary advanced or recurrent endometrial cancer (pA/rEC) in the ENGOT-EN6-NSGO/GOG-3031/RUBY trial who received follow-up immunotherapy

Mansoor Raza Mirza, Cara Mathews, L. Gilbert, Line Bjørge et autres

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Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group

Suzanne P. MacFarland, Kerri Becktell, Kami Wolfe Schneider, Roland P. Kuiper et autres

Gastrointestinal (GI) polyposis and cancer in pediatric patients is frequently due to an underlying hereditary cancer risk syndrome requiring ongoing cancer screening. Identification of at-risk patients through family history, clinical features of a syndrome, or symptom onset ensures appropriate cancer risk assessment …

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Update on Genetic Counselor Practice and Recommendations for Pediatric Cancer Predisposition Evaluation and Surveillance

Kristin Zelley, Jaclyn Schienda, Bailey Gallinger, Wendy Kohlmann et autres

In July 2023, the American Association for Cancer Research held the second Childhood Cancer Predisposition Workshop, at which international experts in pediatric cancer predisposition met to update the previously published 2017 consensus statements on pediatric cancer predisposition syndromes. Since 2017, advances in …

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Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults

Anirban Das, Suzanne P. MacFarland, Julia Meade, Jordan R. Hansford et autres

Replication repair deficiency (RRD) is a pan-cancer mechanism characterized by abnormalities in the DNA mismatch repair (MMR) system due to pathogenic variants in the PMS2, MSH6, MSH2, or MLH1 genes, and/or in the polymerase-proofreading genes POLE and POLD1. RRD predisposition syndromes (constitutional …

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