Arteriolymphatic Malformation in KRAS-related Parkes Weber Syndrome of Lower Limbs.

Authors

Zhengtuan Guo, Peihua Wang, Huaijie Wang, Chong Xie, Weilong Lin, Weijia Yang

Published in

Academic radiology. Aug 19, 2026. Epub Aug 19, 2026.

Abstract

The pathophysiology of arteriolymphatic malformations (ALM) in somatic KRAS-related Parkes Weber syndrome (PWS) of the lower limbs has not been reported. This study aims to characterize the clinical, imaging, and genetic features of ALM in somatic KRAS-related PWS and to redefine this entity.
This retrospective observational study (2019-2024) analyzed patients from the Vascular Anomalies Center database who met the following criteria: (1) lower limb PWS confirmed clinically/radiologically; (2) lymphatic involvement; and (3) somatic KRAS mutation in lesional tissue. The exclusion criteria were incomplete records/no genetic testing. Diagnosis of ALM requires simultaneous arterial-phase opacification of the veins and lymphatics on computed tomography angiography and/or blood-tinged chyle on direct puncture, as confirmed by correlating femoral arteriography/lymphography. The data included demographics, imaging, and somatic genetic analyses.
Twenty-seven patients (median 6 years) were included in the study. All 27 patients (100%) exhibited a discrepancy in the lower limb length (>1 cm). Somatic KRAS mutations: p.G12D (24/27, 89%), p.Q22K (3/27, 11%). ALM was radiologically confirmed. Chyle leakage occurred in 19/27 (70%) of patients. Lymphangiectasia was detected preoperatively in 18/27 (67%). Central conducting lymphatic incompetence was subclinical in 5/27 (19%). The associated anomalies included renal hypoplasia (1/27, 4%), horseshoe kidney (1/27, 4%), renal artery stenosis (1/27, 4%), femoral vein hypoplasia (2/27, 7%), and persistent sciatic vein (2/27, 7%).
This cohort delineated a distinct subtype of somatic KRAS-related PWS characterized by peripheral ALM, limb overgrowth, specific KRAS variants, and the absence of systemic involvement or germline transmission, supporting the redefinition of capillary-lymphatic-arteriovenous malformation terminology.

PMID:
42618426
Bibliographic data and abstract were imported from PubMed on 20 Aug 2026.

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