Soft-tissue Vascular Anomalies Research Articles

Role of Ultrasound and Dynamic Contrast MRI Study in Diagnosis of Soft Tissue Vascular Anomalies in Pediatric Age Group

Background Vascular anomalies (VAs) represent a spectrum of disorders from a simple “birthmark” to life- threatening entities. Incorrect nomenclature and misdiagnoses are commonly experienced by patients with these anomalies. Accurate diagnosis is crucial for appropriate evaluation and management, often requiring multidisciplinary specialists. Aim of the Work The aim of this study is to emphasize the role of dynamic contrast MRI and ultrasound in evaluation of soft tissue vascular anomalies and subsequently in assigning the proper treatment. Patients and Methods All available cases of soft tissue vascular anomalies in the pediatric age group attending to the radiology department for a 6 months period were included in the study starting from February 2021. Results Our results showed that the US had a sensitivity of 100%, specificity of 86.4% and accuracy of 84.0% in detection of hemangioma compared to MRI. The US had a sensitivity of 53.8 %, specificity of 91.7% and accuracy of 88% in detection of venous malformation compared to MRI. US had a sensitivity of 33.3 %, specificity of 95.5 % and accuracy of 88% in detection of Klippel trenaunay syndrome compared to MRI. While the US had a sensitivity of 33.3%, specificity of 90.9 % and accuracy of 84% in detection of lymphatic malformation compared to MRI. In the case of mixed low flow malformation US had sensitivity of 0%, specificity of 91.3% and accuracy of 84%. Conclusion The previously stated results denote that US has high sensitivity & specificity in diagnosis of vascular anomalies especially in hemangioma; thus when imaging is needed in diagnosis of vascular malformations US should be considered positively.

Lymphatic differentiation and microvascular proliferation in benign vascular lesions of skin and soft tissue: Diagnostic features following the International Society for The Study of Vascular Anomalies Classification—A retrospective study

Discrepancies have been noted between the clinical and histologic diagnosis of vascular malformations. To evaluate the effectiveness of the International Society for Study of Vascular Anomalies (ISSVA) classification in diagnosing benign vascular anomalies based on clinical and (immuno) histologic parameters, focusing on lymphatic differentiation and vascular proliferation. A retrospective study of 121 consecutive patients with benign skin and soft-tissue vascular anomalies located in the head and neck region (pyogenic granulomas and angioma senilis were excluded) by applying multiplex immunohistochemistry staining for lymph vessels (D2-40), endothelial blood vessels, and proliferating cells (Ki67). Clinical and histologic diagnosis was revised after the ISSVA classification. Initially, 64 lesions were diagnosed as tumors and 57 as malformations. Revision diagnosis following the ISSVA classification revealed 27 tumors, 90 malformations (22.2% lymphatic), and 4 non-ISSVA. Immunostaining showed lymphatic differentiation in 24 (19.8%) of 121 cases, of which 20 were malformations. Proliferative activity (Ki67+) was found in 41 (33.8%) of 121 cases, of which 8 were arteriovenous malformations. Quality and size of materials (biopsies vs resections) and clinical information. The diagnostic accuracy of combined histologic and clinical approaches for identifying vascular anomalies following the ISSVA classification can be substantially enhanced by incorporating additional immunostaining techniques to evaluate lymphatic differentiation and proliferative activity, particularly in identifying the occurrence of vascular malformations.

Contrast enhanced ultrasound for characterization of suspected soft tissue vascular anomalies

BackgroundEvaluation of perfusion characteristics is the key to characterize vascular anomalies. Contrast-enhanced ultrasound (CEUS) is a radiation-free modality to evaluate this in real-time and can be coupled along with Doppler-ultrasound (US). ObjectiveTo evaluate the utility of CEUS in characterization of suspected soft-tissue vascular anomalies and compare its diagnostic accuracy with Doppler-US. Materials and methodsThis was an ethically-approved cross-sectional study, done from November 2017- November 2019, involving 93 patients (55 M/38F; mean age 23.6 ± 11.9 years) in development cohort and 128 (66 M/62F; mean age 21.4 ± 11.1 years) in validation cohort. Patients suspected to have soft-tissue vascular anomalies on clinical evaluation and US were included. Clinical features, US, Doppler, subjective and quantitative CEUS features (from time-intensity curves) were evaluated. Composite gold standard employing MRI, phlebogram, DSA or biopsy was used to make the final diagnosis. The CEUS features found to be significantly different in the development cohort were prospectively validated in the validation cohort. P-value < 0.05 was considered significant, ROC curves were drawn and threshold values obtained for the various quantitative parameters. A prospective diagnosis was suggested in the validation group along with a degree of diagnostic confidence and accuracy was calculated. ResultsThe spectrum of lesions included 77 venous malformations, 46 fibro-adipose vascular anomalies, 32 vascular tumors, 20 arteriovenous malformations and 20 lymphatic malformations. All lesions were found to have distinctive temporal and morphological subjective enhancement patterns. Quantitative parameters like rise-time, mean-transit-time, time-to-peak, peak-enhancement showed significant differences between the various groups (P value < 0.05). Addition of CEUS not only increased the diagnostic accuracy of Doppler-US from 76.5% (91/119) to 88.2% (105/119), but also the degree of diagnostic confidence in characterization of soft-tissue vascular anomalies. None of the patients showed any contrast-related adverse effects. ConclusionContrast-enhanced ultrasound is useful to characterize different types of soft-tissue vascular anomalies and increases the diagnostic accuracy and confidence over Doppler-ultrasound.

Role of ultrasound and colored Doppler examination in the diagnosis and the classification of the superficial soft tissue vascular anomalies

BackgroundVascular anomalies are congenital lesions of abnormal vascular development, and a primary distinction have to be made between a vascular tumor and a vascular malformation, hemangiomas are considered the commonest vascular tumor, correct diagnosis is imperative for appropriate treatment. In this report, we tried to verify the role of ultrasonography and Doppler examination in the initial diagnosis, the classification of vascular anomalies and in the post-treatment follow-up.Results (main findings)This report included cases of vascular anomalies who attended the interventional radiology department as well as the vascular anomaly clinic in Abo El-Rish hospitals during the period 2019 through 2021. Data of all patients attending the clinic were prospectively examined. Files of 60 cases with vascular anomalies were available for review. The diagnosis of vascular anomalies was done according to their history and characteristic findings at clinical examination as well as U/S and color Doppler examinations, MRI and angiographic studies were done as needed. A significant female predominance was noticed. A significant predominance in the head and neck region was noticed (60%). Treatment was individualized according to each case; propranolol was chosen as the first line of treatment in IH. Intra-lesional steroids injections were done in hemangiomas, and intra-lesional bleomycin was done in venous and lymphatic malformations, endovascular embolization was done in high flow vascular malformations.ConclusionUltrasound and color Doppler examination were effective and accurate methods in the diagnosis, the classification of superficial soft tissue vascular anomalies, the detection of early complications and in the follow-up after different treatment methods applied, it was also beneficial in the exclusion of non-vascular lesions.

Percutaneous MR Imaging-Guided Laser Ablation and Cryoablation for the Treatment of Pediatric and Adult Symptomatic Peripheral Soft Tissue Vascular Anomalies

PurposeTo evaluate the safety and effectiveness of percutaneous magnetic resonance (MR) imaging-guided laser ablation and cryoablation for the treatment of symptomatic soft tissue vascular anomalies (VAs) of the trunk and extremities. Materials and MethodsAn institutional review board-approved retrospective review was undertaken of all pediatric and adult patients who underwent MR imaging-guided and monitored laser ablation and/or cryoablation for the treatment of symptomatic peripheral soft tissue VA. Preablation and postablation MR imaging was independently reviewed. Pain scores on the visual analog scale (0 to 10) and self-reported subjective symptomatic improvement were assessed. Change in VA size and pain scores were compared using a paired t test. ResultsThirty patients (24 females; age, 10–75 years) with 34 VAs were treated for moderate to severe pain (n = 27) or swelling/mass effect (n = 3) with 60 total ablation sessions. The baseline maximum VA diameter was 9.5 cm ± 8.6. At baseline, all VAs (100%) demonstrated variable T2-weighted signal hyperintensity and enhancement. The baseline pain score was 6.4 ± 1.6. Clinical follow-up was available for 23 patients. At a mean follow-up time of 12.2 months ± 10.1, 19 of 20 (95%) patients treated for pain and 2 of 3 (67%) patients treated for swelling/mass effect reported partial or complete symptomatic relief. There was a significant decrease in the postablation pain scores (−5.7 ± 1.0, P < .001) and maximum VA size (−2.3 cm ± 2.7, P = .004), with >50% reduction in VA T2 signal (59%) and enhancement (73%). Nine of 30 (30%) patients experienced minor complications. ConclusionsMR imaging-guided and monitored percutaneous laser ablation and cryoablation appear to be safe and effective for the treatment of symptomatic peripheral soft tissue VAs.

A Challenging Diagnosis: PTEN Hamartoma Tumor Syndrome Presenting as Isolated Soft-tissue Vascular Anomalies

Objective: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) has been known to present with a constellation of congenital anomalies including macrocephaly, vascular malformations, and hamartomas. Identifying a pathogenic germline PTEN mutation early is vital as all patients share a markedly increased risk for malignancy. Diagnosing children, however, is challenging as age-related penetrance makes it difficult to meet established diagnostic criteria. Methods: We present 4 patients with isolated soft-tissue masses of the extremity who lacked the classic constellation of systemic features of PHTS but were found to carry germline PTEN mutations on sequencing performed on involved tissue and subsequently confirmed in peripheral blood specimens. Results: Although none of the patients met published diagnostic criteria to indicate genetic PTEN screening, the growing differential diagnosis of soft-tissue vascular anomalies of the extremity increasingly requires sequencing of involved tissue to accurately characterize a lesion. Diagnosing these patients with a cancer predisposition syndrome radically changed their surveillance regimens which have resulted in the identification of concerning lesions of the thyroid and cervix. Conclusion: PTHS can present as an isolated PTEN hamartomas of soft tissue lesion with minimal systemic findings.

Abstract No. 17 Prospective observational study of pain severity and pain interference outcomes following percutaneous magnetic resonance imaging–guided laser ablation or cryoablation of painful peripheral, soft tissue vascular anomalies: 6-month interim analysis

To prospectively evaluate the 6-month pain severity and pain interference outcomes following percutaneous MRI-guided laser ablation and cryoablation of focal painful, peripheral soft tissue vascular anomalies

Role of Non invasive Imaging in Characterisation of Soft Tissue Vascular Anomalies: Comparison of Ultrasound with Contrast Enhanced Magnetic Resonance Imaging

Introduction: Soft tissue vascular anomalies present a diagnostic challenge. In these anomalies, imaging is crucial for therapeutic planning and improvement of prognosis. Ultrasound (US) and Contrast-Enhanced Magnetic Resonance Imaging (CEMRI) are both widely utilised and are valuable imaging modalities, both having distinct advantages and limitations in evaluation of such lesions. Aim: To evaluate soft tissue vascular anomalies using US and CEMRI and assess their agreement in characterisation of these lesions. Materials and Methods: The prospective study included 75 patients with vascular anomalies evaluated by means of US and CEMRI: 71 underwent both US and MRI, three underwent US alone, and one patient underwent MRI alone. Patients of all ages were included. Lesions were characterised based on imaging findings and vascular perfusion characteristics. Histopathological evaluation was done in all patients. Receiver Operating Characteristic (ROC) analysis was used for differentiating data. The agreement of US and CEMRI with histopathological diagnosis were assessed using kappa statistics. Results: Among the soft tissue vascular anomalies, 17 were haemangiomas, 55 were vascular malformations and 3 were other vascular tumours. Majority of the lesions were venous malformations (n=26; 34.66%). A cut-off value of 17.5 cm/sec of peak venous velocity using Colour Doppler showed 100% sensitivity in differentiating Arterio-Venous Malformations (AVM) from haemangiomas using ROC curves. Agreement expressed as kappa was 0.884 (95% CI 0.794-0.973) for US and 0.923 (95% CI 0.850-0.996) for CEMRI demonstrating near perfect agreement with histopathology in both. Conclusion: The findings of this study indicate that both US and CEMRI are accurate in detection and characterisation of soft tissue vascular anomalies showing comparable level of agreement. US may be the preferred imaging modality as it is widely available, relatively inexpensive and non invasive. Contrast enhanced MRI may be reserved as a complementary technique in cases wherein lesion categorisation or extent is ambiguous during diagnosis.

Intravoxel incoherent motion and diffusion kurtosis imaging for discriminating soft tissue sarcoma from vascular anomalies.

To investigate the feasibility of intravoxel incoherent motion (IVIM) diffusion-weighted imaging (DWI) and diffusion kurtosis imaging (DKI) in discriminating soft tissue sarcoma from vascular anomalies.Twenty-two patients with lower extremity soft tissue sarcoma and 15 patients with lower extremity vascular anomalies underwent IVIM-DWI and DKI. IVIM model generated true diffusion (D), perfusion fraction (f), and pseudo-diffusion coefficient (D∗). DKI model generated mean kurtosis (MK) and mean diffusion (MD). These parameters were measured by 2 radiologists separately through drawing region of interest. Intraclass correlation coefficient (ICC) was calculated to evaluate the inter-reader viability in measurement. The Mann–Whitney test was used to compare the parameters between vascular anomalies and soft tissue sarcoma. Receiver operating characteristic curves were constructed for assessing diagnostic accuracies.ICC was more than 0.8 for apparent diffusion coefficient (ADC), D, D∗, f, MK, and MD. Mean ADC, D, and MD were significantly lower in soft tissue sarcoma versus vascular anomalies (P < .05). Mean D∗ and f were not significantly different (P > .05). Soft tissue sarcoma had significantly higher MK than vascular anomalies (P < .05). Areas under curve for ADC, D, MK, and MD were 0.876, 0.885, 0.894, and 0.812, respectively.IVIM and DKI are feasible in discriminating soft tissue sarcoma from vascular anomalies.

Multifunctional hybrid nanoconstruct of zerovalent iron and carbon dots for magnetic resonance angiography and optical imaging: An In vivo study

In magnetic resonance imaging (MRI), gadolinium (Gd) complexes are very often used as contrast agents to enhance the signal from soft tissue deformities and vascular anomalies, to improve the accuracy of diagnosis. The safety concern of using Gd complexes in renally compromised patients pose limitations on its application. To overcome this scenario, we introduce a nontoxic zerovalent iron based nanoparticle as a novel contrast agent for MR angiography and a hybrid version of the same to serve as a dual function contrast agent for targeted liver imaging. The synthesized zerovalent iron (ZVI) nanoparticles after citrate stabilization (C@ZVI) had an average size of 10 nm and exhibited paramagnetic property which is a prerequisite for a positive MRI contrast agent. The longitudinal magnetic relaxivity, r1 of C@ZVI was 4.93 mM−1s−1 which is much higher than that of clinically used Gd based agent, gadoterate meglumine (3.6 mM−1s−1). For multimodal imaging of the liver, initially the ZVI nanoparticle was tailored with a highly liver specific polysaccharide pullulan, and later with fluorescent carbon dots (Cdts) facilitating both optical and MR imaging. The magnetic relaxivity was retained in P@ZVI-Cdts for T1 contrast imaging with an r1 value of 3.48 mM−1s−1. The in vivo MR angiogram using C@ZVI and the liver targeted MRI and optical imaging using P@ZVI-Cdts were successfully demonstrated proving their potential as MRA contrast agent and a liver specific multimodal imaging agent.

Magnetic Resonance Imaging of the Soft Tissue Vascular Anomalies in Torso and Extremities in Children: An Update With 2014 International Society for the Study of Vascular Anomalies Classification.

Vascular anomalies can occur anywhere in the body, and the majority present in the pediatric population. Accurate classification is essential for proper clinical evaluation, particularly because multidisciplinary care is often required. The International Society for the Study of Vascular Anomalies classification offers a comprehensive classification for all subspecialties. In this review article, we present a magnetic resonance imaging protocol with exemplary cases of the most common types of vascular anomalies in the pediatric trunk and extremities using the current International Society for the Study of Vascular Anomalies classification.

International Society for the Study of Vascular Anomalies Classification of Soft Tissue Vascular Anomalies: Survey-Based Assessment of Musculoskeletal Radiologists’ Use in Clinical Practice

There is controversy regarding the diagnosis and classification of vascular anomalies (VA). As torso and extremities are the second most common body part for presentation of VAs, musculoskeletal (MSK) radiologists play a central role in VA classification. The purpose of this study was to evaluate the awareness and clinical use of the International Society for the Study of Vascular Anomalies (ISSVA) classification by MSK radiologists. A Web-based survey was designed and electronically sent to Society of Skeletal Radiology (SSR) members, with 3 questions on demographics and 7 questions on ISSVA classification use and knowledge. The Z-test for binomial proportions is used to assess for statistical significance between subgroups. The response rate was 12% (130 of 1091), comprised of 64% (83 of 130) academic and 36% (47 of 130) nonacademic MSK radiologists. VAs accounted for only a small (0%-5%) proportion of clinical practice in the majority 92% (119 of 130). Only 17% (22 of 130) of MSK radiologists used the ISSVA classification in practice. Of all respondents, 74% (94 of 127) considered hemangioma a type of vascular malformation (VM). There was no significant difference in the response characteristics between academic and nonacademic radiologists. A greater proportion of MSK radiologists with >5 years' experience provided responses that were discordant with the ISSVA classification compared with less experienced radiologists (0-5 years) in diagnosing hemangiomas in adult patients (P = 0.02), and using the presence of phleboliths to diagnose hemangiomas (P = 0.004). Our survey results indicate a lack of familiarity with the ISSVA classification by the MSK radiology community.

Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 1: classification, sonographic approach and vascular tumors.

Sonography can be used in the management of pediatric soft-tissue vascular anomalies for diagnosing, for assessing lesion extent and for evaluating complications and response to therapy. The sonographic technique includes a combination of gray-scale imaging with color and spectral Doppler techniques. However the interpretation of the sonographic findings requires correlation with the clinical findings, some of which can be easily obtained at the time of scanning. This has to be combined with the use of appropriate nomenclature and the most updated classification in order to categorize these children into the appropriate management pathway. In this article, which is part 1 of a two-part series, the authors review the current classification of vascular anomalies, provide a clinical and a sonographic approach to these lesions, and review the most relevant clinical and sonographic features of vascular tumors including infantile and congenital hemangiomas, tufted angioma, kaposiform hemangioendothelioma, pyogenic granuloma, intramuscular capillary-type hemangioma and angiosarcoma.

Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.

Vascular malformations are a heterogeneous group of entities, many of which present in the pediatric age group. Sonography plays a major role in the management of children with these vascular anomalies by providing information that helps in diagnosing them, in assessing lesion extent and complications, and in monitoring response to therapy. The interpretation of sonographic findings requires correlation with clinical findings, some of which can be easily obtained at the time of scanning. This has to be combined with the use of appropriate nomenclature and the most updated classification in order to categorize these patients into the appropriate management pathway. Some vascular malformations are part of combined vascular anomalies or are associated with syndromes that include other disorders, frequently limb overgrowth, and these are now being reclassified based on their underlying genetic mutation. Sonography has limitations in the evaluation of some vascular malformations and in these cases MR imaging might be considered the imaging modality of choice, particularly for lesions that are large, that involve multiple compartments or are associated with other soft-tissue and bone abnormalities. In this article, which is part 2 of a two-part series, the authors review the most relevant clinical and sonographic features of arteriovenous, capillary, venous and lymphatic malformations as well as vascular malformations that are part of more complex conditions or associated with syndromes, including Parkes-Weber syndrome, phosphatase and tensin homologue (PTEN) hamartoma tumor syndromes, Klippel-Trénaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi and skeletal anomalies) syndrome, fibro-adipose vascular anomaly and Proteus syndrome.

Abstract No. 116 - MRI-guided laser ablation for symptomatic, peripheral soft-tissue vascular anomalies: feasibility, safety, and effectiveness in the first 19 patients

Abstract No. 116 - MRI-guided laser ablation for symptomatic, peripheral soft-tissue vascular anomalies: feasibility, safety, and effectiveness in the first 19 patients

Arterial Spin-Labeling to Discriminate Pediatric Cervicofacial Soft-Tissue Vascular Anomalies.

Differentiating major subtypes of cervicofacial vascular lesions is crucial for appropriate management. The aim of our study was to evaluate the performance of an MR imaging arterial spin-labeling perfusion sequence in discriminating pediatric cervicofacial soft-tissue vascular anomalies. We conducted a retrospective analysis of data from a prospectively maintained registry including pediatric patients at a tertiary pediatric center between January 2012 and January 2014. We included pediatric patients with a final diagnosis of soft-tissue vascular anomalies and an MR imaging, including an arterial spin-labeling sequence at presentation. We performed an analysis of lesion perfusion, blinded to clinical data, by using concurrent spiral 3D pseudocontinuous arterial spin-labeling (1.5T magnet; spiral matrix, 512 × 8 mm; postlabeling delay, 1025 ms). Lesional flow was recorded with calibrated intralesional ROIs. Perfusion characteristics were compared among lesion subtypes with the Mood Median test. Among 840 patients screened, 46 matched the inclusion criteria and were included (median age, 1.45 years; interquartile range, 0.4-5.1 years; 27 females). Hemangiomas, including infantile hemangiomas (n = 18 patients) and noninvoluting (n = 2) and rapidly involuting (n = 1) congenital types, demonstrated marked hyperperfusion (median flow, 436 mL/min/100 g; interquartile range, 212.5-603 mL/min/100 g), significantly higher than that of lymphatic malformations (median, 22.5 mL/min/100 g; interquartile range, 16-60 mL/min/100 g; P < .001) or venous malformations (median, 25 mL/min/100 g; interquartile range, 15-66.5 mL/min/100 g; P = .003). MR imaging arterial spin-labeling is a valuable tool for the assessment of soft-tissue vascular anomaly hemodynamics and for the classification of major lesion subtypes.

Magnetic resonance imaging of pediatric soft-tissue vascular anomalies.

Magnetic resonance (MR) imaging can be used in the management of pediatric soft-tissue vascular anomalies for diagnosing and assessing extent of lesions and for evaluating response to therapy. MR imaging studies often involve a combination of T1- and T2-weighted images in addition to MR angiography and fat-suppressed post-contrast sequences. The MR imaging features of these vascular anomalies when combined with clinical findings can aid in diagnosis. In cases of complex vascular malformations and syndromes associated with vascular anomalies, MR imaging can be used to evaluate accompanying soft-tissue and bone anomalies. This article reviews the MR imaging protocols and appearances of the most common pediatric soft-tissue vascular anomalies.

Time-resolved contrast-enhanced MRA (TWIST) with gadofosveset trisodium in the classification of soft-tissue vascular anomalies in the head and neck in children following updated 2014 ISSVA classification: first report on systematic evaluation of MRI and TWIST in a cohort of 47 children

To evaluate the relative accuracy of contrast-enhanced time-resolved angiography with interleaved stochastic trajectories versus conventional contrast-enhanced magnetic resonance imaging (MRI) following International Society for the Study of Vascular Anomalies updated 2014-based classification of soft-tissue vascular anomalies in the head and neck in children. Time-resolved angiography with interleaved stochastic trajectories versus conventional contrast-enhanced MRI of children with diagnosis of soft-tissue vascular anomalies in the head and neck referred for MRI between 2008 and 2014 were retrospectively reviewed. Forty-seven children (0-18 years) were evaluated. Two paediatric neuroradiologists evaluated time-resolved MRA and conventional MRI in two different sessions (30 days apart). Blood-pool endovascular MRI contrast agent gadofosveset trisodium was used. The present cohort had the following diagnoses: infantile haemangioma (n=6), venous malformation (VM; n=23), lymphatic malformation (LM; n=16), arteriovenous malformation (AVM; n=2). Time-resolved MRA alone accurately classified 38/47 (81%) and conventional MRI 42/47 (89%), respectively. Although time-resolved MRA alone is slightly superior to conventional MRI alone for diagnosis of infantile haemangioma, conventional MRI is slightly better for diagnosis of venous and LMs. Neither time-resolved MRA nor conventional MRI was sufficient for accurate diagnosis of AVM in this cohort. Conventional MRI combined with time-resolved MRA accurately classified 44/47 cases (94%). Time-resolved MRA using gadofosveset trisodium can accurately classify soft-tissue vascular anomalies in the head and neck in children. The addition of time-resolved MRA to existing conventional MRI protocols provides haemodynamic information, assisting the diagnosis of vascular anomalies in the paediatric population at one-third of the dose of other MRI contrast agents.

Classification and Tie2 mutations in spinal and soft tissue vascular anomalies

Vascular anomalies included hemangiomas and vascular malformations (VMs). VMs are mediated by mutations in the endothelial cell-specific receptor tyrosine kinase Tie2 (TEK),which is essential for angiogenesis and vascular stabilization. We identified five types of Tie2 mutations in 80 patients with soft tissue or spinal VMs by PCR including the previously detected missense mutations 2690A>G (Y897C), 2740C>T (L914F), 2743C>T (R915C), and two nonsense mutations 2763G>A, 2688C>T, we identified Tie2 mutation in primary spinal VMs for the first time. Tie2 mutations were found to be absent in 33 patients with hemangiomas and DNA samples of VMs. In addition, we showed that Tie2 mRNA expression in spinal VMs was similar to soft tissue VMs, but obviously lower than infant hemangiomas (P<0.01). This study provides new insights into spinal VMs, the association of Tie2 and vascular anomalies needs to be further discussed.

Initial Results of Image-Guided Percutaneous Ablation as Second-Line Treatment for Symptomatic Vascular Anomalies.

The purpose of this study was to determine the feasibility, safety, and early effectiveness of percutaneous image-guided ablation as second-line treatment for symptomatic soft-tissue vascular anomalies (VA). An IRB-approved retrospective review was undertaken of all patients who underwent percutaneous image-guided ablation as second-line therapy for treatment of symptomatic soft-tissue VA during the period from 1/1/2008 to 5/20/2014. US/CT- or MRI-guided and monitored cryoablation or MRI-guided and monitored laser ablation was performed. Clinical follow-up began at one-month post-ablation. Eight patients with nine torso or lower extremity VA were treated with US/CT (N = 4) or MRI-guided (N = 2) cryoablation or MRI-guided laser ablation (N = 5) for moderate to severe pain (N = 7) or diffuse bleeding secondary to hemangioma-thrombocytopenia syndrome (N = 1). The median maximal diameter was 9.0 cm (6.5-11.1 cm) and 2.5 cm (2.3-5.3 cm) for VA undergoing cryoablation and laser ablation, respectively. Seven VA were ablated in one session, one VA initially treated with MRI-guided cryoablation for severe pain was re-treated with MRI-guided laser ablation due to persistent moderate pain, and one VA was treated in a planned two-stage session due to large VA size. At an average follow-up of 19.8 months (range 2-62 months), 7 of 7 patients with painful VA reported symptomatic pain relief. There was no recurrence of bleeding at five-year post-ablation in the patient with hemangioma-thrombocytopenia syndrome. There were two minor complications and no major complications. Image-guided percutaneous ablation is a feasible, safe, and effective second-line treatment option for symptomatic VA.