Microcystic Lymphatic Malformations Research Articles

LB1698 Phase 2 study of the safety and efficacy of QTORIN rapamycin in the treatment of microcystic lymphatic malformations

LB1698 Phase 2 study of the safety and efficacy of QTORIN rapamycin in the treatment of microcystic lymphatic malformations

Efficiency and clinical results of bleomycin injection in the treatment of lymphatic malformations.

Lymphatic malformations (LMs) are rare congenital anomalies. The traditional treatment is surgical excision, but intralesional sclerosing agent injection is also preferred as the first-choice treatment because of postoperative frequent recurrences, poor cosmetic results, and high complication rate. We aimed to evaluate the efficacy of sclerosing agent injection used in the treatment of LMs in children. We retrospectively analyzed the children who were treated for LM between January 2011 and January 2022. The lesion sizes of the patients who were injected with sclerosant (Bleomycin) under sedation anesthesia, measured by ultrasound before and after the treatment, were recorded, and the difference between them was statistically evaluated. Fifteen patients were retrospectively analyzed. The mean age was 45.2 ± 14.1 months. Of these, ten (66.6%) were male and five (33.3%) were female (F/M = 1/2). The mean age of male patients was 55 ± 20.1 months; the mean age of female patients was 25.8 ± 11. Seven patients had a single dose, two had twice, and six had three and more. The mean measurable size of macrocystic lesions before treatment was 55.2 ± 28.4 mm; after treatment, it was 23.8 ± 18.2 mm. Although no measurable shrinkage was detected in microcystic lesions, it was observed that the lesion shrank to allow surgical resection. With the statistical analysis, it was seen that there was a statistically significant difference between the dimensions before and after the treatment (P < 0.05) and the sclerosant injection had a great effect on the treatment (R: 0.89). Intralesional injection of bleomycin is less effective for microcystic or mixed-type LMs, but provides an effective reduction for a safe surgical procedure. It is an effective treatment for macrocystic lesions.

Doxycycline sclerotherapy in patients with periorbital lymphatic malformation: A case series and literature review.

To describe and report the outcomes of doxycycline sclerotherapy in patients with periorbital lymphatic malformations(LMs). A retrospective review of consecutive patients diagnosed with periorbital LMs and who received doxycycline sclerotherapy at Hong Kong Eye Hospital and Queen Elizabeth Hospital, Hong Kong between January 2016 and June 2022. Doxycycline was prepared with a concentration of 100 mg diluted in 10 mL water for injection. A 23-gauge needle aiming at the center of the macrocyst was used to aspirate fluid from the lesion; this was then followed by an intralesional injection of 0.5 to 2 ml of doxycycline depending on the size of the cavity. A total of eight patients(six females) were included in this study. All of them received doxycycline sclerotherapy for periorbital LMs(five extraconal, three intraconal). The median age for receiving sclerotherapy was 29 years old. Seven patients had macrocystic LMs, and one had mixed macro- and microcystic LM. Two of the LMs had venous components radiologically. The average number of sclerotherapy treatment in one patient was 1.4 ± 0.7times. Seven of the eight patients had excellent response radiologically or clinically. One patient showed a satisfactory response after three cycles of sclerotherapy. No recurrence was experienced at median follow-up of 14 months. None of the patients experienced visual threatening or systemic complication. Our preliminary experience with doxycycline sclerotherapy has shown encouraging results for the treatment of macrocystic or mixed-type periorbital LMs, with a favourable safety profile. Further clinical trials with longer follow-ups are warranted on this topic.

Classification specific lymphatic malformations management on head and neck in children

The aim of this study was to retrospectively analyze the outcomes from surgical and nonsurgical treatments for head and neck lymphatic malformations (LMs) in children. Fifty-eight patients were divided into a surgical group (22) and a nonsurgical group (36). The surgical group contained microcystic LMs in the tongue treated by surgery or with sclerotherapy. The nonsurgical group contained macrocystic and mixed LMs in floor of the mouth, neck, face, submandibular region, maxillofacial region and neck treated by sclerotherapy or with microwave ablation (MWA). In the surgical group, the mean follow-up time was 44 ± 15.3 months. At last follow-up, 15 LMs (68.2%) were completely controlled, 3 LMs (13.6%) were stable without need for further treatment, and 4 LMs (18.2%) were persistent. In the nonsurgical group, the median follow-up time was 23.5 months (13.0, 32.8). At last follow-up, 28 LMs (77.8%,) have a volume reduction rate of >50%, and 6 LMs (16.7%.) have the complication. Surgery is suitable for microcystic LMs in the early stage with clear boundary and becomes limited for them in the late stages due to diffuse lesions. Sclerotherapy is effective for macrocystic and mixed LMs. Sclerotherapy with MWA is exceptionally effective for large cystic LMs with multiple compartments.

Safety and Efficacy of Bleomycin Slow Infusion Sclerotherapy Using a Syringe Pump for Microcystic and Mixed Lymphatic Malformations.

To evaluate the safety and efficacy of bleomycin infusion sclerotherapy using a syringe pump in microcystic and mixed (microcystic components with the presence of a cyst over 1cm) lymphatic malformations (LMs). Patients who received bleomycin sclerotherapy with a syringe pump for microcystic or mixed LMs were reviewed. Cystic components of LMs were accessed under sonographic guidance, followed by injection of an opacified bleomycin solution using a syringe pump (infusion rate, 10-20mL/h) under fluoroscopic guidance. Imaging outcomes were graded as complete (> 90% size reduction), partial (25-90%), or no response (< 25%). Clinical outcomes and procedure-related complications were also reviewed. Forty-nine patients with 81 sclerotherapies were analyzed. The mean age was 17years (range 0.1-65 y). Thirty-one (63%) patients had microcystic LMs, and 18 (37%) had mixed. A mean of 1.7 sessions (range 1-4) of sclerotherapy was performed using a mean cumulative dose of bleomycin of 10.8 U (range 1.5-39 U). The mean infusion time was 39min (range 14-130min). Regarding imaging outcomes, there was a complete response in 29% (n = 14), a partial response in 57% (n = 28), and no response in 14% (n = 7). Regarding clinical outcomes, there was a complete response in 39% (n = 19), a partial response in 51% (n = 25), and no response in 10% (n = 5). According to the CIRSE classification, no major complications were identified. Bleomycin slow infusion sclerotherapy provides gradual filling of sclerosant to target microcystic components. This technique is safe and feasible for the management of microcystic or mixed LMs. Level 4, Case series.

Two-Year Outcomes of Transcutaneous Non-Image Guided Bleomycin Sclerotherapy in Conjunctival Lymphatic Malformations: A Protocol-Based Management in 16 Eyes.

To study the efficacy and the 2-year outcomes of treating conjunctival lymphatic malformations (LM) with protocol-based bleomycin sclerotherapy. A retrospective interventional study of 16 eyes with conjunctival LM treated with bleomycin sclerotherapy between December 2016 and 2019. A clinical resolution was assessed as poor (less than 25% decrease in size), fair (25%-50% decrease in size), good (50%-75% decrease in size), excellent (more than 75% decrease in size), and complete resolution. Mean age at presentation was 18 ± 13.09 (15 years, 3 to 59 years) years. The conjunctival component was classified based on clinical appearance as conjunctival mass (12) and microcystic LM (4). Mean clock hours of involvement were 3.32 ± 5.29 clock hours (4, 2-9 clock hours). An average per session dose of 1.8 ± 0.3 IU (median 2 IU, range 1-2 IU) and a cumulative dose of 3 ± 1.5 IU (3, 1-6 IU) of bleomycin were injected over an average of 1.6 ± 0.7 (median 2, range 1-3) treatment sessions per patient. Excellent response was observed in 11 (69%) cases. A residual lesion requiring surgical debulking was noted in 1 case. Recurrence was noted in 2 (13%) cases one of which was treated with repeat sclerotherapy resulting in complete resolution. Adverse reactions included restricted extraocular motility in extreme gaze in 2 eyes (13%). Sustained tumor resolution was observed over a mean follow-up of 29.24 + 9.45 months (24, 24-38 months). Bleomycin sclerotherapy gives excellent response in conjunctival LMs and is an effective first-line therapy in these cases.

Topical sirolimus solution for lingual microcystic lymphatic malformations in children and adults (TOPGUN): study protocol for a multicenter, randomized, assessor-blinded, controlled, stepped-wedge clinical trial

BackgroundLingual microcystic lymphatic malformations (LMLMs) are rare congenital vascular malformations presenting as clusters of cysts filled with lymph fluid or blood. Even small well-limited lesions can be responsible for a heavy burden, inducing pain, aesthetic prejudice, or oozing, bleeding, infections. The natural history of LMLMs is progressive worsening punctuated by acute flares. Therapeutic options include surgery, laser excision, and radiofrequency ablation but all are potentially detrimental and expose to local relapse. Therefore, the management frequently relies on a “watchful waiting” approach. In complicated LMLMs, treatment with oral sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, is often used. Topical applications of sirolimus on the buccal mucosae have been reported in other oral diseases with good tolerance and none to slight detectable blood sirolimus concentrations. We aim to evaluate the efficacy and safety of a 1 mg/mL sirolimus solution applied once daily on LMLM of any stage in children and adults after 4, 8, 12, 16, 20, and 24 weeks of treatment compared to usual care (no treatment).MethodsThis is a randomized, multicentric study using an individually randomized stepped-wedge design over 24 weeks to evaluate topical application of a 1 mg/mL sirolimus solution once daily, on LMLM, versus usual care (no treatment), the control condition. Participants begin with an observational period and later switch to the intervention at a randomized time (week 0, 4, 8, or 12). Visits occur every 4 weeks, either in the study center or by teleconsulting. The primary outcome will be the evaluation of global severity of the LMLM on monthly standardized photographs by 3 independent blinded experts using the physical global assessment (PGA) 0 to 5 scale. Secondary outcomes will include lesion size measurement and quality of life assessment, investigator, and patient-assessed global disease and specific symptoms (oozing, bleeding, sialorrhea, eating impairment, taste modification, aesthetic impairment, pain, and global discomfort) assessment. A biological monitoring will be performed including residual blood sirolimus concentration and usual laboratory parameters.DiscussionGiven the disappointing state of current treatment options in LMLMs, topical sirolimus could become firstline therapy in treating LMLMs if its efficacy and safety were to be demonstrated.Trial registrationClinicalTrials.gov NCT04128722. Registered on 24 September 2019.EudraCT: EUCTR2019-001530-33-FRSponsor (University Hospital Center of Tours – CHRU Tours): DR190041-TOPGUNFrench regulatory authorities: ID RCB: 2019-001530-33

Annual prevalence estimation of lymphatic malformation with a cutaneous component: observational study of a national representative sample of physicians

BackgroundLymphatic malformations (LMs) represent a potentially life-threatening, rare disease of the lymphatic system characterized by development of abnormal vessels, outpouchings, or cysts filled with lymphatic fluid. There are three morphologic types of LMs based on the size of the individual cysts: macrocystic (typically > 2 cm), microcystic (generally < 2 cm), and mixed (includes aspects of both). Macrocystic LMs typically exist beneath the skin and often can involve vascular components and/or organs. Microcystic LMs often have a cutaneous component and clinically present with lymphorrhea, bleeding, pain, itching, malodor, and functional deficits. There are no treatments approved by the US Food and Drug Administration (FDA) for either macrocystic or microcystic lymphatic malformations. The totality of the epidemiologic literature for LM is limited to the incidence of the disease among various birth cohorts. This is the first nationally representative study to estimate the national managed prevalence for patients with microcystic LM or combined LM with a cutaneous component annually across physician specialties likely to manage this condition. We conducted a retrospective observational survey of a nationally representative sample of patient-care physicians in the United States most likely to manage lymphatic malformations with a cutaneous component (LMC). Once recruited, target physicians participated via an electronic questionnaire. We weighted study physician self-estimates of the number of LMC patients treated in the past 12 months to reflect the specialists’ corresponding proportion in the national universe. All patient information was anonymous; no personally identifiable information was collected.ResultsOf the 420 physicians who visited the study website, 316 agreed to be screened and to participate (75.2% participation rate). Our survey results indicated the estimated number of unique annually managed LMC patients by target specialists is 79,920 (CI 66,600–93,250). This number corresponds to managed prevalence of 24.1 LMC patients per 100,000 population (CI 19.6/100,000–28.4/100,000).ConclusionsThe study indicates that while rare, LMC affects a substantial number of people in the US (79,920) who are being managed by one or more specialists. By better understanding the prevalence of people living with LMC who require treatment, efforts to both increase disease awareness and to identify underserved populations in need of potential new treatments can be better focused.

Targeting Neuropilin‐2 in Lymphatic Malformation

Lymphatic malformations (LM) are sporadic, non‐familial congenital lesions consisting of dilated, abnormal lymphatic vessels that can cause severe lymphedema, disfigurement, organ dysfunction, and in some cases morbidity. These vascular anomalies grow slowly but progress over time and recur after surgery; no effective drugs or preventions currently exist for LM. Genome sequencing identified that approximately 80% of LM patients have somatic activating mutations in the PIK3CA gene. Lymphatic endothelial cells (LEC) expressing mutant PIK3CAH1047Rinduce both macrocystic and microcystic LM in mouse models. Our goal is to understand the cellular and molecular processes that regulate LM growth in order to develop novel therapeutic strategies for patients with LM. Neuropilin‐2 (NRP2) is an essential co‐receptor for VEGFC/VEGFR3 signaling through the PI3K/AKT pathway which is crucial for LEC viability and motility, yet NRP2 also mediates inhibitory signals from its Semaphorin‐3F (SEMA3F) ligand to attenuate activation of AKT and induce cytostasis. Our results using immunohistochemistry to detect NRP2 protein in paraffin‐embedded human samples indicate that NRP2 is highly upregulated in LM lesions compared to normal lymphatic vessels. LM‐LEC primary cell lines, derived separately from several patients, show increased NRP2 levels and hyper‐activated AKT compared to primary LEC derived from healthy human dermis. Additionally, LEC isolated from the skin of transgenic mice (prox1‐creERT2;Nrp2 f/f) specifically lacking Nrp2 in lymphatic vessels following tamoxifen induction (LEC‐Nrp2‐KO) show suppressed proliferation and migration following VEGF‐C stimulation compared to normal LEC isolated from wildtype mice. Importantly, SEMA3F exogenous protein, in a dose‐dependent manner, inhibits the proliferation of normal LEC and LM‐LEC and attenuates the phosphorylation of AKT. Taken together, our study suggests that NRP2 may be an important target for therapy in LM patients. Future studies using SEMA3F protein or specific antibodies targeting the VEGF‐binding domain of NRP2 will be tested in preclinical trials.

Understanding Lymphatic Anatomy and Abnormalities at Imaging.

Lymphatic abnormalities encompass a wide range of disorders spanning solitary common cystic lymphatic malformations (LMs) to entities involving multiple organ systems such as lymphangioleiomyomatosis. Many of these disorders are rare, yet some, such as secondary lymphedema from the treatment of malignancy (radiation therapy and/or lymph node dissection), affect millions of patients worldwide. Owing to complex and variable anatomy, the lymphatics are not as well understood as other organ systems. Further complicating this is the variability in the description of lymphatic disease processes and their nomenclature in the medical literature. In recent years, medical imaging has begun to facilitate a deeper understanding of the physiology and pathologic processes that involve the lymphatic system. Radiology is playing an important and growing role in the diagnosis and treatment of many lymphatic conditions. The authors describe both normal and common variant lymphatic anatomy. Various imaging modalities including nuclear medicine lymphoscintigraphy, conventional lymphangiography, and MR lymphangiography used in the diagnosis and treatment of lymphatic disorders are highlighted. The authors discuss imaging many of the common and uncommon lymphatic disorders, including primary LMs described by the International Society for the Study of Vascular Anomalies 2018 classification system (microcystic, mixed, and macrocystic LMs; primary lymphedema). Secondary central lymphatic disorders are also detailed, including secondary lymphedema and chylous leaks, as well as lymphatic disorders not otherwise easily classified. The authors aim to provide the reader with an overview of the anatomy, pathology, imaging findings, and treatment of a wide variety of lymphatic conditions. ©RSNA, 2022.

TOPICAL TACROLIMUS 0.1% FOR TREATMENT OF CUTANEOUS MICROCYSTIC LYMPHATIC MALFORMATIONS

Microcystic lymphatic malformations as described in the international literature form a subgroup of low-flow congenital vascular malformations (VM) resulting from irregular embryological development. Microcystic lesions normally manifest as an accumulation of lymph- and blood-filled vesicles that, when externalized, cause skin maceration with consequent pain and potential infection resulting in the impairment of the patient's quality of life. There is no consensus on a standardized algorithm nor clear guidelines for successful treatment of this type of lymphatic malformation, and treatment options employed often result in ambivalent and transient outcomes with a high rate of recurrence. The topical formulation of tacrolimus is a well-known FDAapproved anti-T cell agent that was recently identified as a potent activator of ALK1, which is involved in several processes and functions including angiogenesis. We investigated if topical administration of tacrolimus may be an effective therapy for directly targeting cutaneous microcystic lymphatic malformations as a complement to systemic treatment. The study enrolled four patients with cutaneous microcystic lymphatic malformations: three male (ages: 13,15,18) and one female (age: 30). Two of the patients presented lesions on their backs, one patient on the left hand and one on the left lower limb. All four patients received treatment with topical tacrolimus 0.1% twice a day for 10 weeks on a previously selected area for application. Weekly clinical follow-ups were conducted along with close physician-patient contact. All patients displayed a satisfactory response after treatment. Lymphorrhea and bleeding were stopped in all cases and the esthetic aspect of lesions improved in two patients. To date, all patients presented no clinically significant changes to the size or extension of the lesion. Topical tacrolimus treatment is a promising and reasonable option for microcystic lymphatic malformations. Our results encourage further exploration in larger populations with the consideration that it is a safe and effective alternative or complementary therapy to systemic treatment.

Bleomycin sclerotherapy for large diffuse microcystic lymphatic malformations.

Microcystic lymphatic malformations (LMs) are congenital lesions with the diameter of the majority of cysts <1 cm. Bleomycin sclerotherapy has been shown to yield beneficial results for macrocystic LMs. This study aims to evaluate the safety and efficacy of consecutive bleomycin sclerotherapy for large diffuse microcystic LMs. The location and size of the lesions were detected by ultrasound for the 46 patients included in this study. Bleomycin lavage was performed in larger cysts and intradermal injection for the superficial lesion. The outcome and complications were assessed for its efficacy and safety. The large diffuse microcystic LMs mainly located in the neck, abdominal wall and axilla/lateral chest wall. The average lesion size was 10.6 cm × 7.2 cm. The mean number of treatment sessions was 4.5 with 7.3 mg bleomycin for per session averagely. Excellent (69.6%) and moderate (23.9%) responses were obtained. There was no recurrence for the 6 patients (13%) who received a long follow-up. Obvious local swelling, slight intralesional hemorrhage and low-grade fever were the most commonly occurred complications. No lung fibrosis was identified for the patients who received more than 6 sessions. Local lavage combined with intradermal injection of bleomycin is effective and safe for large diffuse microcystic LMs with good therapeutic effect and low complication rates, and can be regarded as the mainstay of therapy for microcystic LMs.

Bleomycin sclerotherapy in lymphangiomas of the head and neck region: a prospective study

Intralesional sclerotherapy for lymphatic malformations (LMs) has become a modality of choice because of the high morbidity and recurrence rates with surgical excision. Traditionally, the macrocystic variant has shown good results with sclerotherapy. This prospective study was performed to evaluate the role of bleomycin sclerotherapy in the management of different radiological variants of LM. A total of 142 patients were included in this study. The lesions were classified as macrocystic, microcystic, or mixed LMs on the basis of ultrasonography. All patients were managed by intralesional injection of bleomycin and were recalled after 4 weeks for evaluation. Colour photographs of the patients were taken before the onset of treatment and at each monthly visit, and were utilized to assess the response. Following the second, third, and fourth doses, the response was better in patients with the macrocystic variant than in those with the other two variants. However, after the completion of six doses, 80.3% of patients with the macrocystic variant, 67.4% with the microcystic variant, and 71.4% with the mixed type had a complete response. There was no difference in the overall response between the three types (P=0.28). Oedema, erythema, and local induration with fever were the most common adverse effects and were more common in younger children.

Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation

Lymphatic malformations (LMs) are debilitating vascular anomalies presenting with large cysts (macrocystic) or lesions that infiltrate tissues (microcystic). Cellular mechanisms underlying LM pathology are poorly understood. Here we show that the somatic PIK3CAH1047R mutation, resulting in constitutive activation of the p110α PI3K, underlies both macrocystic and microcystic LMs in human. Using a mouse model of PIK3CAH1047R-driven LM, we demonstrate that both types of malformations arise due to lymphatic endothelial cell (LEC)-autonomous defects, with the developmental timing of p110α activation determining the LM subtype. In the postnatal vasculature, PIK3CAH1047R promotes LEC migration and lymphatic hypersprouting, leading to microcystic LMs that grow progressively in a vascular endothelial growth factor C (VEGF-C)-dependent manner. Combined inhibition of VEGF-C and the PI3K downstream target mTOR using Rapamycin, but neither treatment alone, promotes regression of lesions. The best therapeutic outcome for LM is thus achieved by co-inhibition of the upstream VEGF-C/VEGFR3 and the downstream PI3K/mTOR pathways.

Microcystic lymphatic malformation localized within the diaphragm

Abstract Localization of a microcystic lymphatic malformation within the diaphragm is an extremely rare vascular anomaly of the lymphatic system. We report the case of a 3-year-old boy who had a localized intrathoracic mass that was detected after birth. As the feeding artery to the mass was detected on computed tomographic images before surgery, we suspected the mass to be an extralobar pulmonary sequestration. Thoracoscopic findings indicated that the mass was localized within the left diaphragm and had an indiscrete margin with the diaphragm. An excisional biopsy was performed to avoid resection of the diaphragm itself. The mass was diagnosed as a microcystic lymphatic malformation based on pathological findings. When an accurate diagnosis of the mass within the diaphragm cannot be made preoperatively, a biopsy under thoracoscopic surgery may be an effective method to diagnose microcystic lymphatic malformations.

Left Hemifacial Lymphatic Malformation in a Nine-Year-Old Boy

Left Hemifacial Lymphatic Malformation in a Nine-Year-Old Boy

Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, double-blind, vehicle-controlled clinical trial

BackgroundCutaneous microcystic lymphatic malformations (CMLMs) are rare conditions in children and adults. They present as clusters of vesicles full of lymph and blood to various extents, inducing maceration, esthetic impairment, pain, and impaired quality of life. The treatment is challenging. Sirolimus is an inhibitor of mammalian target of rapamycin (mTOR) involved in angio-lymphangiogenesis. Topical sirolimus has recently been reported as effective in a few reports of patients with CMLMs. The objective is to compare the efficacy and safety of a 12-week application of 0.1% topical sirolimus versus topical vehicle in CMLMs in children and adults.MethodsThis French blinded multicenter within-person randomized controlled phase 2 trial aims to include 55 patients aged ≥ 6 years who have a primary CMLM. The CMLM will be divided into two equal areas that will be randomly allocated to 0.1% topical sirolimus or topical vehicle applied for 12 weeks. At the end of the 12-week period, the patient/parent will treat the whole area of CMLM with 0.1% topical sirolimus on remaining lesions, for eight more weeks. Patients will be seen at week 20 (treatment will be stopped) and at month 12 to evaluate long-term efficacy. The primary outcome will be improvement of the CMLM in the area treated with topical sirolimus compared to the area treated with topical vehicle by the investigator physician (blinded to the treatment) with the Physician Global Assessment score at week 12. Secondary outcomes will include: assessment of efficacy by independent experts on the basis of standardized photographs; impact on quality of life; efficacy for oozing, bleeding, erythema, and thickness evaluated by the investigators; and global efficacy as well as efficacy for functional and aesthetic impairment evaluated by the patient. Systemic passage of sirolimus will be measured at weeks 6, 12, and 20, and at week 16 for CMLMs ≥ 900 cm2.DiscussionFor patients with CMLMs, topical sirolimus could be a non-invasive and well-tolerated therapeutic option. If the trial demonstrates efficacy and safety of this treatment, this result will lead to a real change in the management of this condition, and 0.1% sirolimus cream would become the first-line treatment.Trial registrationClinicalTrials.gov, NCT03972592. Registered on 3 June 2019. EU Clinical Trials Register EudraCT, 2018–001359-11.

Endovascular Treatment of Klippel-Trenaunay Syndrome

Endovascular Treatment of Klippel-Trenaunay Syndrome

Radiofrequency Ablation of Facial Venolymphatic Malformations: Assessment of Efficacy and Safety and the Role of Injectable Electrodes

PurposeTo evaluate the efficacy and safety of ultrasound (US)-guided radiofrequency (RF) ablation in the treatment of facial microcystic lymphatic malformations (mLMs) or mixed venolymphatic malformations (VLMs) and to introduce the “induced-paralysis” technique with the use of an injectable electrode to minimize neural complications. Materials and MethodsData from patients with symptomatic facial mLMs or mixed VLMs who underwent US-guided RF ablation in 2014–2017 were retrospectively reviewed. Computed tomography (CT) and/or magnetic resonance (MR) imaging was used to localize any functional structures close to the target lesion. Treatment outcome was assessed by 4-point cosmetic grading score (CGS). Treatment outcome was compared between patients with vs without a functional structure close to the lesion and those treated with a noninjectable vs an injectable electrode. Immediate and late complications were assessed during follow-up. ResultsData from 15 patients were evaluated. Initial CGS and median volume were significantly decreased at the last follow-up in all patients (from 4 to 1 and from 7 mL to 0.7 mL, respectively; P < .05). Treatment outcome differed significantly between those with and without a functional structure on CT or MR imaging (P < .05) but showed no difference between noninjectable (n = 9) and injectable electrodes (n = 6). Two cases of transient cranial nerve palsy were seen in the noninjectable electrode group. ConclusionsUS-guided RF ablation is effective in patients with facial mLMs or mixed VLMs. The induced-paralysis technique with an injectable electrode has the potential to ensure technical safety without compromising efficacy.

Retrospective analysis of classification and treatment of microcystic lymphatic malformations of tongue

Objective: To explore the clinical classification of microcystic lymphatic malformations of tongue and observe the treatment of microcystic lymphatic malformations of tongue by retrospective analysis, in order to provide reference for clinical practice. Methods: From October 2005 to October 2015, the complete data of 220 cases of microcystic lymphatic malformations of tongue (115 males and 105 females) received and treated in Provincial Special Department of Vascular Anomalies, Linyi Tumor Hospital was analyzed retrospectively. The age ranged from 8 months to 52 years old, with a median age of 16 years old. All patients were followed up for 3 years, and according to their clinical manifestations, they were divided into three types: localized type of 23 cases, diffuse type of 161 cases, and megaloglossia type of 36 cases. Injection with pingyangmycin merely was performed on 58 cases, whereas merely surgery on 20 cases, injection with pingyangmycin combined with high frequency electrocoagulation on 55 cases, and surgery combined with injection with pingyangmycin on 87 cases. The therapeutic effect was evaluated according to the grade 4 standard. The χ(2) test was used for statistical analysis of count data. Rank sum test was used for statistical analysis of ranked data. Results: The percentage of surgery merely of localized type was 87.0% (20/23), significantly higher than that of other types of lesions [0% (0/197)] (χ(2)=178.060, P<0.001). The percentage of injection with pingyangmycin of diffuse type was 100% (161/161), significantly higher than that of other types of lesions [66.1% (39/59)] (χ(2)=60.034, P<0.001). The percentage of surgery combined with injection with pingyangmycin of megaloglossia type was 100% (36/36), significantly higher than that of other types of lesions [27.7% (51/184)] (χ(2)=65.800, P<0.001). After follow-ups for 3 to13 years, there were 0 cases of gradeⅠ, 11 cases of grade Ⅱ, 50 cases of grade Ⅲ, and 159 cases of grade Ⅳ. There were statistically significant differences in clinical efficacy among different clinical types (H=158.668, P<0.001). The percentage of level Ⅳ efficacy of localized type, diffuse type and megaloglossia type were 100% (23/23), 82.6% (133/161) and 8.3% (3/36) respectively. Local mucosa ulcer appeared in 45 cases and was cured through oral care and expectant treatment. Fever occurred in 28 cases and returned to normal within 24 h after expectant treatment. The lingual frenum was shortened in 16 cases. There were 12 cases with mild tongue swelling, 6 cases with influence on eating but without influence on breathing, and recovered spontaneously one week later. Conclusions: The choice of different treatment methods of microcystic lymphatic malformations of tongue should be made according their clinical classification. The only surgical resection is recommended for localized protrude lesions. Injection with pingyangmycin in high tension combined with surgical resection or high frequency electrocoagulation is effective for diffuse lesions. Surgical resection combined with injection with pingyangmycin is suitable for the patients with megaloglossia type.