Article
Genetics & Heredity
Jiangyuan Zhou, Kaiying Yang, Siyuan Chen, Yi Ji
Summary: Sirolimus shows promising potential in the treatment of KLA, with a partial response achieved in 58.3% of patients. The study suggests sirolimus is currently an option for KLA treatment, with hope for more specific therapies in the future.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Oncology
Jeremy M. Grenier, Alexandra J. Borst, Sarah E. Sheppard, Kristen M. Snyder, Dong Li, Lea F. Surrey, Alyaa Al-Ibraheemi, David R. Weber, James R. Treat, Christopher L. Smith, Pablo Laje, Yoav Dori, Denise M. Adams, Michael Acord, Abhay S. Srinivasan
Summary: Complex lymphatic anomalies are challenging to diagnose due to significant overlap among conditions. Genetic analysis has emerged as an additional diagnostic tool, as demonstrated in four cases with PIK3CA variants. The identification of PIK3CA led to targeted treatment with alpelisib, highlighting the genetic overlap among phenotypically diverse lymphatic anomalies.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Pathology
Antonio R. Perez-Atayde, Larisa Debelenko, Alyaa Al-Ibraheemi, Whitney Eng, Melisa Ruiz-Gutierrez, Meghan O'Hare, Stacy E. Croteau, Cameron C. Trenor, Debra Boyer, Daniel M. Balkin, Sarah F. Barclay, Belinda Hsi Dickie, Marilyn G. Liang, Gulraiz Chaudry, Ahmad I. Alomari, John B. Mulliken, Denise M. Adams, Kyle C. Kurek, Steven J. Fishman, Harry P. W. Kozakewich
Summary: Kaposiform lymphangiomatosis is a rare lymphatic anomaly characterized by distinctive clinical, radiologic, histopathologic, and molecular findings. It presents with respiratory difficulty, hemostatic abnormalities, and soft tissue masses. Imaging shows involvement of multiple compartments, while histopathology reveals dilated lymphatic channels and hemosiderotic lymphatic endothelial cells. Activating NRAS variants are detected in some patients. The disease has an aggressive clinical course with a high mortality rate.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Emilio J. Inarejos Clemente, Joana Diaz Leyva, S. Pinar Karakas, Ana Margarita Duarte, Thomas R. Mas Ricardo Restrepo
Summary: Infantile hemangioma (IH) is a common neoplasm in children that can mimic other types of vascular anomalies or non-vascular tumors. Clinical appearance, time of onset, and pattern of involution aid in diagnosis. Imaging modalities such as US and MRI are used when necessary. Photographic documentation is important for monitoring IH lesions and assisting radiologists in interpretation. Uniform terminology and awareness of other neoplasms that resemble IH are crucial to avoid misdiagnosis.
Article
Oncology
Kenneth M. Heym, Prakash M. Masand, Judith F. Margolin
Summary: Vascular anomalies are complex disorders with challenging diagnoses, and require the crucial involvement of pediatric hematologists/oncologists (PHOs) to improve patients' quality of life.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Peripheral Vascular Disease
Elisa Boscolo, Patricia Pastura, Sandra Schrenk, Jillian Goines, Rachael Kang, Devin Pillis, Punam Malik, Timothy D. Le Cras
Summary: This study demonstrates that somatic mutations in NRAS can drive abnormal angiogenesis in human endothelial cells. The researchers developed in vitro and in vivo models to identify disease-causing pathways and test inhibitors. Treatment with a MAP kinase inhibitor prevented the abnormal changes caused by the NRAS(Q61R) mutation.
Review
Pathology
Qurratulain Chundriger, Muhammad Usman Tariq, Jamshid Abdul-Ghafar, Arsalan Ahmed, Nasir Ud Din
Summary: Kaposiform Hemangioendothelioma (KHE) is a rare vascular tumor that can affect adults, and should be considered in differential diagnosis of vascular lesions to avoid misdiagnosis. Histological features include nodular growth with minor spindle cell component and lymphangiomatosis-like vascular channels.
DIAGNOSTIC PATHOLOGY
(2021)
Review
Oncology
C. Griffin McDaniel, Denise M. Adams, Kimberly E. Steele, Adrienne M. Hammill, A. Carl Merrow, Janet E. Crane, Christopher L. Smith, Harry P. W. Kozakewich, Timothy D. Le Cras
Summary: Kaposiform lymphangiomatosis (KLA) is a rare and life-threatening disease with significant morbidity and mortality. Diagnosis is often delayed and specialized centers for KLA diagnosis and care are limited. Advances have been made in understanding the pathogenesis and etiology of KLA since its discovery in 2014. This review provides comprehensive information on KLA patient presentation, diagnosis, pathology, genetics, and treatment options, as well as challenges faced by patients and their families.
PEDIATRIC BLOOD & CANCER
(2023)
Review
Cell Biology
Dianne Torrence, Cristina R. Antonescu
Summary: Recent molecular advances have improved the classification and diagnosis of vascular tumours. Next-generation sequencing, particularly targeted RNA sequencing, has led to the discovery of novel gene fusions and other molecular alterations in vascular tumours, improving their classification and diagnostic accuracy. These molecular abnormalities have also been translated into diagnostic ancillary markers.
Review
Pediatrics
Wei Yao, Ke-Lei Li, Zhong-Ping Qin, Kai Li, Jia-Wei Zheng, Xin-Dong Fan, Lin Ma, De-Kai Zhou, Xue-Jian Liu, Li Wei, Li Li, Mao-Zhong Tai, Jin-Hu Wang, Yi Ji, Lin Zhou, Hai-Jin Huang, Xiao-Yun Gao, Zhi-Jian Huang, Song Gu, He-Ying Yang
Summary: Kasabach-Merritt phenomenon is a rare disease characterized by severe thrombocytopenia and consumptive coagulation dysfunction caused by specific types of hemangiomas. This review introduces standardized recommendations for the pathogenesis, diagnosis, and treatment of KMP in China, offering valuable insights for clinical practice.
WORLD JOURNAL OF PEDIATRICS
(2021)
Article
Oncology
Kevin X. Liu, Nayan Lamba, Karen J. Marcus, Eric S. Sandler, Stuart H. Gold, Judith F. Margolin, Daphne A. Haas-Kogan, Denise M. Adams
Summary: This study retrospectively reviewed the outcomes of 30 pediatric and young adult patients who underwent radiotherapy, finding that a small group experienced clinical benefit but the majority experienced disease progression, with some potential long-term complications.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Oncology
Kiersten W. Ricci, Ionela Iacobas
Summary: CLAs are congenital diseases of the lymphatic circulation system associated with significant morbidity and early mortality. This article presents clinical features of four CLAs and provides perspectives on diagnostic testing and disease management, including supportive care, medical therapies, and other interventions, based on three cases from the authors' practice.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Biochemistry & Molecular Biology
Kayo Kunimoto, Yuki Yamamoto, Masatoshi Jinnin
Summary: This article summarizes the latest findings on genetic abnormalities and molecular pathology of vascular anomalies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pediatrics
Karl A. Soderlund, Mark D. Mamlouk, Vinil N. Shah, Jarod L. Roland, William P. Dillon
Summary: Spontaneous intracranial hypotension is a rare cause of secondary headaches in children. A unique case was reported of a girl with kaposiform lymphangiomatosis who developed postural headaches and imaging features of spontaneous intracranial hypotension, with surgical ligation of a CSF-lymphatic fistula resulting in resolution of the headaches. This report suggests that patients with systemic lymphatic anomalies who develop postural headaches should be evaluated for spontaneous intracranial hypotension and a CSF-lymphatic fistula, with surgical ligation as a potential treatment option.
PEDIATRIC RADIOLOGY
(2021)
Article
Surgery
Yingjie Cai, Jiayi Li, Wei Yang, Nan Zhang, Hailang Sun, Weiping Zhang, Ming Ge
Summary: Intracranial KHE is rare and difficult to diagnose early. Meticulous intraoperative hemostasis and radical resection of the tumor and involved structures are essential for reducing recurrence.
FRONTIERS IN SURGERY
(2022)
