Results 41 to 50 of about 346 (122)

Changes in cell morphology and function induced by the NRAS Q61R mutation in lymphatic endothelial cells.

PLoS ONE
Recently, a low-level somatic mutation in the NRAS gene (c.182 A > G, Q61R) was identified in various specimens from patients with kaposiform lymphangiomatosis.
Shiho Yasue, Michio Ozeki, Akifumi Nozawa, Saori Endo, Hidenori Ohnishi   +4 more
doaj   +1 more source

Japanese clinical practice guidelines for vascular tumors, vascular malformations, lymphatic malformations, and Lymphangiomatosis 2022

Pediatrics International, Volume 68, Issue 1, January/December 2026.
Abstract The objective was to prepare guidelines to perform the current optimum treatment by organizing effective and efficient treatments of hemangiomas and vascular malformations, confirming the safety, and systematizing treatment, employing evidence‐based medicine techniques and aimed at improvement of the outcomes.
Yoshiaki Kinoshita, Kosuke Ishikawa, Sadanori Akita, Katsuyoshi Koh, Satoru Sasaki, Masatoshi Jinnin, Hidefumi Mimura, Keigo Osuga, Michio Ozeki, Michiko Nagahama, Akihiro Fujino, Yoko Aoki, Akiko Asai, Noriko Aramaki‐Hattori, Ryohei Ishiura, Masanori Inoue, Yuki Iwashina, Takafumi Ohshiro, Keiko Ogawa, Mine Ozaki, Junko Ochi, Shiro Onozawa, Motoi Kato, Takahide Kaneko, Tamihiro Kawakami, Akira Kitagawa, Masakazu Kurita, Yoshihiro Kuwano, Taro Kono, Shien Seike, Shinsuke Takagi, Nobuyuki Takakura, Takao Tachibana, Shuichi Tanoue, Kumiko Chuman, Hiroki Nakaoka, Yasuhiro Nakamura, Fumio Nagai, Yasunari Niimi, Shunsuke Nosaka, Taiki Nozaki, Tadashi Nomura, Kazuki Hashimoto, Ayato Hayashi, Satoshi Hirakawa, Takeshi Hirabayashi, Taizo Furukawa, Hiroshi Furukawa, Yumiko Hori, Takanobu Maekawa, Kentaro Matsuoka, Hideki Mori, Eiichi Morii, Akira Morimoto, Yuta Moriwaki, Shunsuke Yuzuriha, Naoaki Rikihisa, Munezumi Fujita, Yasuyuki Yamahana, Kyoichi Deie, Asami Tozawa, Daisuke Hasegawa, Akira Higashiyama, Daisuke Maeda, Sachiko Asayama, Yuhki Arai, Yohei Iwata, Mayu Uka, Hidehito Usui, Mizuki Uchiyama, Saori Endo, Hideki Endo, Rintaro Ono, Naoya Oshima, Toshihiro Otsuka, Kuniaki Ohara, Shinji Kagami, Tomo Kakihara, Mototoshi Kato, Hiroki Kanamori, Masafumi Kamata, Ami Kawaguchi, Akiko Kishi, Hiroshi Kitagawa, Kiyokazu Kim, Tamotsu Kobayashi, Takeshi Saito, Yusuke Shikano, Shuichi Shimada, Keisuke Suzuki, Masataka Takahashi, Shohei Takami, Reiko Takeda, Aya Tanaka, Kaishu Tanaka, Satoru Tamura, Masashi Tamura, Kanako Danno, Kenji Tsuboi, Yuta Nakajima, Ryo Nakatani, Miho Noguchi, Akifumi Nozawa, Naoki Hashizume, Masashi Hayakawa, Daichi Hayashi, Takaya Fukumoto, Mamoru Honda, Norifumi Matsuda, Hayato Maruguchi, Naoki Murakami, Kiichiro Yaguchi, Shiho Yasue, Hiroki Yoshihara, Rika Yoshimatsu, Kiyohito Yamamoto, Shinji Wada   +116 more
wiley   +1 more source

Intestinal failure in kaposiform hemangioendothelioma successfully resolved with medical therapy and nearly fat-free oral feeding: A novel case report

Intestinal Failure
Background: Kaposiform hemangioendothelioma and kaposiform lymphangiomatosis (KHE/KLA) are rare, non-malignant lymphovascular anomalies often complicated by Kasabach-Merritt phenomenon (KMP). Morbidity and mortality are high.
Tierra L. Mosher, Eduardo J. Contijoch, Jordan Bui, Joyce Teng, Michael R. Jeng, Shweta S. Namjoshi   +5 more
doaj   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 199, Issue 3, Page 161-175, September 2025.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Kaposiform hemangioendothelioma with distant lymphangiomatosis without an association to Kasabach-Merritt-Syndrome in a female adult!

Vascular Health and Risk Management, 2008
Claudia S Vetter-Kauczok1, Philipp Ströbel2, Eva B Bröcker1, Jürgen C Becker11Department of Dermatology, Julius-Maximilians-University Wuerzburg, Wuerzburg, Germany; 2Department of Pathology, Ruprecht-Karls-University Mannheim, Mannheim ...
Claudia S Vetter-Kauczok, Philipp Ströbel, Eva B Bröcker, Jürgen C Becker   +3 more
doaj  

RAS Pathway Mutations and Therapeutics in Vascular Anomalies

Pediatric Blood &Cancer, Volume 72, Issue 5, May 2025.
ABSTRACT Vascular anomalies (VAs) are a diverse group of vascular tumors and vascular malformations (VMs). VMs are characterized by abnormal vessel development, overgrowth, and dysfunction. Coagulopathy, edema, and effusions can cause severe morbidity and mortality in children and adults with these diseases. Germline or somatic mutations in the RAS/RAF/
Sara Alharbi, Svatava Merkle, Adrienne M. Hammill, Andrew M. Waters, Timothy D. Le Cras   +4 more
wiley   +1 more source

Targeted Therapies for Slow‐Flow Vascular Malformations

Australasian Journal of Dermatology, Volume 66, Issue 3, Page 142-151, May 2025.
ABSTRACT Advances in genetic sequencing technologies have enabled the identification of key activating somatic variants in cellular signalling pathways involved in the pathogenesis of vascular malformations. Given that these genetic variants are also implicated in the pathogenesis of several cancers, the repurposing of targeted therapies developed in ...
Grace X. Li, Deshan F. Sebaratnam, James P. Pham   +2 more
wiley   +1 more source

Significant improvement of a nevus spilus‐type congenital melanocytic nevus with oral selumetinib

Pediatric Dermatology, Volume 41, Issue 5, Page 936-937, September/October 2024.
Abstract Giant congenital melanocytic nevi (GCMN) can be cosmetically significant and can lead to melanoma. There is no standard pharmacologic treatment for GCMN. We present the case of an 8‐year‐old female with kaposiform lymphangiomatosis caused by an NRAS mutation whose nevus spilus‐type GCMN improved on oral selumetinib.
R. Berna, T. Hasbun, D. Adams, A. T. Moon, J. R. Treat   +4 more
wiley   +1 more source

NRASQ61R mutation drives elevated angiopoietin‐2 expression in human endothelial cells and a genetic mouse model

Pediatric Blood &Cancer, Volume 71, Issue 7, July 2024.
Abstract Background Angiopoietin‐2 (Ang‐2) is increased in the blood of patients with kaposiform lymphangiomatosis (KLA) and kaposiform hemangioendothelioma (KHE). While the genetic causes of KHE are not clear, a somatic activating NRASQ61R mutation has been found in the lesions of KLA patients.
Patricia Pastura, C. Griffin McDaniel, Sara Alharbi, Dermot Fox, Bethany Coleman, Punam Malik, Denise M. Adams, Timothy D. Le Cras   +7 more
wiley   +1 more source

Complex lymphatic anomalies: Challenging diagnostic considerations

Clinical Case Reports, Volume 12, Issue 1, January 2024.
This is a CT scan demonstrating an infiltrative mass that is invading the anterior mediastinum. This image is representative of a complex lymphatic anomaly, which can be difficult to diagnose and can have potentially life‐threatening complications with biopsies.
Venkatraman Kothandaraman, John Wisener, Paul W. Helgerson   +2 more
wiley   +1 more source