Dysregulation of Amphiregulin stimulates the pathogenesis of cystic lymphangioma.

Along with blood vessels, lymphatic vessels play an important role in the circulation of body fluid and recruitment of immune cells. Postnatal lymphangiogenesis commonly occurs from preexisting lymphatic vessels by sprouting, which is induced by lymphangiogenic factors such as vascular endothelial growth factor C (VEGF-C). However, the key signals and cell types that stimulate pathological lymphangiogenesis, such as human cystic lymphangioma, are less well known. Here, we found that mouse dermal fibroblasts that infiltrate to sponges subcutaneously implanted express VEGF-D and sushi, Von Willebrand factor type A, EGF, and pentraxin domain containing 1 (SVEP1) in response to PDGFRß signal. In vitro, Pdgfrb knockout (ß-KO) fibroblasts had reduced expression of VEGF-D and SVEP1 and overproduced Amphiregulin. Dysregulation of these three factors was involved in the cyst-like and uneven distribution of lymphatic vessels observed in the ß-KO mice. Similarly, in human cystic lymphangioma, which is one of the intractable diseases and mostly occurs in childhood, fibroblasts surrounding cystic lymphatics highly expressed Amphiregulin. Moreover, fibroblast-derived Amphiregulin could induce the expression of Amphiregulin in lymphatic endothelial cells. The dual source of Amphiregulin activated EGFR expressed on the lymphatic endothelial cells. This exacerbation cascade induced proliferation of lymphatic endothelial cells to form cystic lymphangioma. Ultimately, excessive Amphiregulin produced by fibroblasts surrounding lymphatics and by lymphatic endothelial cells per se results in pathogenesis of cystic lymphangioma and will be a fascinating therapeutic target of cystic lymphangioma.

Bilateral inguinoscrotal swelling: An uncommon presentation of omental cystic lymphangioma.

Abdominal cystic lymphangioma is a rare benign tumour in children. It is often difficult to diagnosis pre-operatively due to a varied spectrum of symptoms. We report a case of a male infant who presented with gross bilateral inguinoscrotal swelling. Provisional diagnosis of congenital communicating hydrocele was made and investigation revealed a large abdominal cyst. Patient underwent explorative laparotomy and the cyst arising from greater omentum, extending into bilateral scrotum, was excised and bilateral herniotomy done. Mass was confirmed to be lymphangioma on biopsy. This case is unique as an abdominal lymphangioma presented solely as inguinoscrotal swelling, with no abdominal symptom. To our knowledge, this is the first case of omental cystic lymphangioma involving both inguinoscrotal regions. Our case suggests that abdominal cystic lymphangioma should be a part of the differential diagnosis in any child with gross inguinoscrotal swelling in whom initial impression is of communicating hydrocele.

Cystic lymphangioma of the lesser omentum in an adult patient.

INTRODUCTION: Lymphangiomas belong to the group of benign vascular tumors that originate in the lymphatic tissue. Up to 90% of cases manifest in children before the second year of life. In adults, their presence is very rare. In most cases, they are located in the head, neck and axilla. Intra-abdominal lymphangiomas are very rare and represent less than 1% of all cases. CASE REPORT: The authors present the case of a 64-year-old female patient diagnosed with an intra-abdominal cystic lesion following a routine examination. A CT scan of the abdomen confirmed a cystic lesion located in the lesser omentum between the left lobe of the liver and the lesser curvature of the stomach. The patient was scheduled for laparoscopic exstirpation of the lesion. Histological examination confirmed the clinical diagnosis of cystic lymphangioma of the lesser omentum. CONCLUSION: The etiopathogenesis of lymphangiomas remains unclear. Despite the fact that they are benign tumors, lymphangiomas tend to have an infiltrative pattern of growth, invading surrounding structures. The majority of cases are asymptomatic and the diagnosis is incidental. The gold standard in treatment remains complete surgical extirpation with microscopically negative margins.

Adrenal cysts of lymphatic origin: A clinical and pathological study of six cases and systematic literature review.

Adrenal cysts are rare, benign, and usually asymptomatic, being detected as an incidental finding on imaging methods. Adrenal Cysts of Lymphatic Origin (ACLO) and Adrenal Lymphangiomas (AL) are types of endothelial cyst and are the most prevalent subtype in this series. This study aims to present a single institutional experience of these rare cysts and compare their features with those found in the review of existing literature on ACLO and AL. Overall, thirteen cases of adrenal cysts were diagnosed and surgically excised during the study period, onto which we performed immunohistochemistry using a panel of antibodies (CD31, CD34, Pan Cytokeratin AE-1/AE-3, Factor VII, D2-40, and ERG). Four cases of ACLO and two AL were found. The lesions predominantly affected right adrenal, and the majority of patients were middle-age females, of Caucasian ethnicity, and asymptomatic. In our literature review, we found 108 cases of ACLO/AL from 57 articles with similar sex and age distribution. The diagnosis and subclassification of adrenal cysts are challenging, and there is a significant overlapping between the definition of ACLO and AL.

Neoadjuvant Everolimus for Adult Giant Mesenteric Cystic Lymphangioma with mTOR Pathway Activation.

Cystic lymphangioma are rare benign vascular or lymphatic tumors, diagnosed mostly in newborns or children, that may become life-threatening because of local invasiveness. Surgical "en-bloc" resection with negative margins is the only curative treatment, but some patients are diagnosed with unresectable tumors. We describe the case of a young adult with giant unresectable mesenteric lymphangioma. Extensive pathological characterization as well as whole exome and transcriptome sequencing enabled us to identify mTOR pathway activation within endothelial tumor cells. The patient was treated with everolimus and experienced major partial response, leading to the surgical resection of the residual lesions. This case highlights the importance of molecular characterization of adult cystic lymphangioma for mTOR pathway activation because multidisciplinary therapeutic approaches, including neoadjuvant everolimus and secondary surgery, can lead to complete cure of this rare condition. KEY POINTS: The case of an adult patient diagnosed with giant unresectable mesenteric cystic lymphangioma, in which activation of the mTOR pathway was documented at both the pathological and transcriptomic levels, is reported. This patient showed major partial response to the mTOR inhibitor everolimus, which led to the successful resection of residual tumor lesions after 9 months of treatment. This report shows that mTOR targeting should be considered as neoadjuvant treatment in adult large cystic lymphangioma, as it can lead to complete surgery and cure of this rare condition.

Characteristics of adult abdominal cystic Lymphangioma: a single-center Chinese cohort of 12 cases.

BACKGROUND: Cystic lymphangioma is a rare, benign developmental disease, mostly affecting the cervical and axial regions. The clinical features of abdominal cystic lymphangioma (ACL) are reported among pediatric patients but are less well known in adults. The purpose of this study was to demonstrate the clinical characteristics of ACL in Chinese adults and describe our experience in treating this disease. METHODS: We conducted a single-center, non-interventional, retrospective study of 12 adult patients with ACL admitted to Peking Union Medical College Hospital in Beijing, China from November 1984 through August 2017. The demographic, clinical, laboratory, imaging, histopathologic, and therapeutic data were collected. RESULTS: Detailed information on seven males and five females was available. The mean age at diagnosis was 39.1 (SD 17.3) years. The mean duration of follow-up was 6.9 years. Six (50%) patients were asymptomatic, and abdominal pain was the leading symptom for three (25%) patients. The cysts were evaluated by ultrasound (n = 8, 67%), CT (n = 10, 83%), and MRI (n = 4, 33%). Therapeutic modalities include laparotomy (n = 6, 50%), laparoscopy (n = 4, 33%), and aspiration (n = 2, 17%), with variable outcomes. The mean postsurgical hospital stay was 6.8 days. Complete excision was accomplished in eight patients, and one recurrence was observed during follow-up. Of patients who underwent partial resection, one experienced disease relapse. CONCLUSIONS: This is the first report on an Asian cohort of adult patients with ACL. Typical imaging features could lead to timely diagnosis and treatment of ACL. Radical resection is recommended with a longer period of follow-up. The analysis of this cohort deepens our understanding of adult ACL.

Cystic lymphangioma in the peripheral jejunal mesentery in an adult and excision with laparoscopic-assisted surgery: a case report.

BACKGROUND: Lymphangiomas are uncommon congenital malformations that present mainly in the head, neck, and axillar regions in pediatric patients. Mesenteric cystic lymphangiomas (MCLs), which occasionally present with substantial growth and the invasion of adjacent vital structures, are rarely reported in adults. We report a case of MCL in an adult who was treated with laparoscopic-assisted excision. CASE PRESENTATION: A 40-year-old Japanese man visited his family physician for prolonged periumbilical pain. Plain computed tomography (CT) showed a low-density mass in his left abdomen, and he was referred to our hospital 2 weeks later. His abdomen was flat and soft, and no mass was felt upon palpation. Routine laboratory data showed no abnormalities in the blood cell counts. The levels of tumor markers, such as carcinoembryonic antigen (CEA), carbohydrate antigen 19-9 (CA19-9), and cancer antigen 125 (CA125), were within normal ranges. Contrast-enhanced CT was performed, and a low-density mass was observed with an irregular outline and poor contrast, as well as involvement of the peripheral mesenteric artery and partial compression of the adjacent jejunum without dilatation of the oral side of the bowel. The patient was diagnosed with lymphatic cysts and observed for 1 month without symptom exacerbation. Follow-up CT showed no increase in the size of the mass but showed apparent invasion of the jejunal wall without bowel obstruction. Magnetic resonance imaging (MRI) showed intermediate intensity on T1-weighted imaging (T1WI) and high intensity on T2-weighted imaging (T2WI). The coronal view on T2WI clearly showed an accumulation of cystic lesions. We performed tumor excision with partial resection of the jejunum in a laparoscopic-assisted manner. Pathological examination showed multicystic lesions with an attenuated endothelial lining, surrounding rich adipose tissue and scattered smooth muscle fibers; the patient was diagnosed with MCL. Immunohistochemical assays supported this diagnosis. CONCLUSIONS: This is rare case of MCL presenting in an adult who underwent successful laparoscopic-assisted resection. Mesenteric lymphangioma (ML) should be considered in the differential diagnosis of patients with intraabdominal cysts. Radical excision is optimal, even when the patient is asymptomatic. Laparoscopic-assisted tumor resection is a suitable surgical method for treating MLs located in the peripheral mesentery.

Congenital superior caval vein aneurysm in a newborn with cystic lymphangioma: a rare case report.

Dilatation of the superior caval vein is extremely rare, with few cases described among newborns. The association of aneurysm of the superior caval vein and lymphatic malformation is extremely uncommon. We report a case of a female infant with a prenatal diagnosis of superior caval vein aneurysm presenting at birth with a neck mass that was found to be a cystic lymphangioma.

Ileal Cystic Lymphangioma presenting with Acute Appendicitis.

Mesenteric lymphatic malformations are rare benign tumors that are most commonly found in children. The presentation of these tumors can be variable. It has been suggested that mesenteric lymphatic malformations are congenital; however, there is evidence that their size may be increased by infection. A 3-year 10-month-old boy presented with rhinorrhea and cough followed by acute abdominal pain. Ultrasonography revealed a lobulated mass in the lower abdomen. Computerized tomography scan of the abdomen diagnosed an inflamed appendix with perforation. Laparotomy revealed a multicystic mass within the mesentery closely adherent to the ileum; with omentum wrapped around. The appendix was dilated and firm. An ileal resection and an appendicectomy were performed. Histology confirmed acute transmural appendicitis with concurrent cystic lymphangioma of the ileal mesentery. Although rare, cystic lymphangioma must be considered in the differential of pediatric acute abdomen. Surgeons must be aware of this association and be reminded to inspect the rest of small bowel during appendicectomy especially if the preoperative imaging is suspicious.

Microbubbles in macrocysts - Contrast-enhanced ultrasound assisted sclerosant therapy of a congenital macrocystic lymphangioma: a case report.

BACKGROUND: Congenital cystic lymphangiomas are benign malformations due to a developmental disorder of lymphatic vessels. Besides surgical excision, sclerosant therapy of these lesions by intracavitary injection of OK-432 (Picibanil®), a lyophilized mixture of group A Streptococcus pyogenes, is a common therapeutical option. For an appropriate application of OK-432, a detailed knowledge about the structure and composition of the congenital cystic lymphangioma is essential. SonoVue® is a commercially available contrast agent commonly used in sonography by intravenous and intracavitary application. CASE PRESENTATION: Here we report the case of 2 month old male patient with a large thoracic congenital cystic lymphangioma. Preinterventional imaging of the malformation was performed by contrast-enhanced ultrasound after intracavitary application of SonoVue® immediately followed by a successful sclerotherapy with OK-432. CONCLUSIONS: Contrast agent-enhanced ultrasound imaging offers a valuable option to preinterventionally clarify the anatomic specifications of a congenital cystic lymphangioma in more detail than by single conventional sonography. By the exact knowledge about the composition and especially about the intercystic communications of the lymphangioma sclerosant therapy becomes safer and more efficient.

Retroperitoneal lymphangioma in a pregnant patient: A case report and literature review.

This case report describes the management of a woman diagnosed with a retroperitoneal cystic tumor during pregnancy. The 29-year-old patient presented at 29 weeks of pregnancy with abdominal pain. A retroperitoneal tumor measuring 224 × 156 × 235 mm was identified on ultrasound and magnetic resonance imaging. The patient underwent cesarean section delivery of a healthy neonate at 37 weeks. Uncomplicated laparoscopic surgery was performed during the postpartum period, resulting in a histologic diagnosis of a retroperitoneal lymphangioma. A review of articles published between 2003 and 2023 on the diagnosis, management, and prognosis of gestational lymphangiomas was conducted using the PubMed, SCOPUS and SpringerLink databases. Ten articles, including case reports of lymphangiomas diagnosed during pregnancy, were identified. The most frequent location was the gastrointestinal tract, with no cases reported in the retroperitoneal area. A good perinatal outcome was reported in the majority of cases. Lymphangiomas are rare benign tumors that are even more uncommon during pregnancy. Watchful waiting can offer a good obstetric and perinatal prognosis.

A ruptured mesenteric lymphangioma causing peritonitis: a case report.

Cystic lymphangioma is a rare disease that is mainly diagnosed in childhood. When diagnosed, the lesion presents an indication for surgery due to the risk of serious complications. Herein, we report the case of a 32-year-old patient who presented to the emergency room for abdominal pain that developed 2 days before with worsening symptoms and abdominal pain in the last 24 hr. The computed tomography showed diffuse wall thickening of the jejunum and proximal ileum with mesenteric fat infiltration, a mesenteric collection, and a moderate volume of ascites extending into the pelvis. A laparotomy was performed, revealing diffuse chemical peritonitis with a crater-like lesion in the jejunal mesentery, secreting lymphatic fluid. The mesenteric lesion was then excised, and the histological examination showed a ruptured cystic lymphangioma. Lymphangiomas of the small bowel mesentery are rare and may be exceptionally associated with bowel occlusion or peritonitis.

Cystic lymphangioma of the omental bursa in adult: A rare case report.

Cystic lymphangioma is a benign lymphatic malformation that primarily affects children, with rare occurrences in adults. These malformations are most commonly found in the head and neck region, though their presence in the abdominal cavity is infrequent. In this report, we present the case of 71-year-old women with a cystic lymphangioma located in the omental bursa. The rarity of this condition in adults, combined with its unusual abdominal location, highlights the unique aspects of this case. This report explores the clinical presentation, diagnostic challenges, and management strategies for these uncommon lymphatic malformations.

A Rare Case of Adult Cervicothoracic Cystic Lymphangioma Presenting as Neurogenic Thoracic Outlet Syndrome.

Cystic lymphangioma (CL) is an uncommon congenital malformation of the lymphatic system, often occurring in the head, neck, or mediastinum, potentially causing compression symptoms like dysphagia or dyspnea, and in rare cases, neurogenic thoracic outlet syndrome (nTOS). This report details a case of a 38-year-old male with a four-year history of a left lower neck mass, experiencing tingling in his left forearm over the last six months. The examination revealed a left supraclavicular cystic mass, with imaging suggesting CL compressing neurovascular structures. The patient underwent successful complete surgical excision through a left supraclavicular approach. Histopathology confirmed CL, with no recurrence observed over 19 months. The case highlights that cervicothoracic CL with adult presentation can cause pressure symptoms including nTOS. It also underscores the role of a multimodal diagnostic approach to differentiate it from other neck masses and that a supraclavicular approach can effectively remove the cyst, especially when the lower extension is not deep and there is no surrounding inflammation, thereby leading to relieving pressure and preventing recurrence.

Cervical Cystic Lymphangioma in Young Adults: A Case Report and Literature Review.

Cystic lymphangioma is a rare benign congenital malformation of the lymphatic system. It usually presents in childhood and rarely in young adults. Its management lacks consensus, and its prognosis varies depending on the location. We report a case of cervical cystic lymphangioma in a young adult with chronic left lateral cervical swelling. Examination revealed a high jugulocarotid swelling, non-pulsatile, and transilluminable. Radiographic exploration suggested a cystic lymphangioma. Histopathology confirmed the diagnosis. The patient underwent a sclerotherapy session, followed by surgical excision. Our case illustrates a rare presentation of cervical cystic lymphangioma in a young adult and aims to increase awareness of this rare entity and provide literature insights into its diagnosis and treatment in adult patients.

Axillary Cystic Lymphangioma in an Adult: A Case Report.

Lymphangioma is a congenital malformation of the lymphatic system most often reported in children. Its occurrence in adults is rare. It usually develops in the head, neck, and axillary region. It mimics other conditions, such as cold abscess, simple cyst, hydatid cyst, and hemangioma, on clinical examination. Here, we report a case of cystic lymphangioma in the axillary region of a 32-year-old male. The patient underwent surgical excision and histopathology confirmed cystic lymphangioma. Although it is very rare in adults, cystic lymphangioma should be considered in the differential diagnosis of an axillary mass.

Rupture of a giant jejunal mesenteric cystic lymphangioma misdiagnosed as ovarian torsion: A case report.

BACKGROUND: Cystic lymphangioma is a rare benign tumor that affects the lymphatic system. Mesenteric lymphangiomas in the small bowel are extremely uncommon. CASE SUMMARY: We present a 21-year-old female patient who complained of abdominal pain. The diagnosis of ovarian torsion was suspected after abdominopelvic unenhanced computed tomography and ultrasound revealed a large cyst in contact with the bladder, ovary, and uterus. The patient underwent emergency laparotomy performed by gynecologists, but it was discovered that the cystic tumor originated from the jejunum. Gastrointestinal surgeons were then called in to perform a cystectomy. Pathological examination confirmed the diagnosis of cystic lymphangioma of the mesentery. The patient had an uneventful postoperative recovery. CONCLUSION: Mesenteric lymphangiomas can cause abdominal pain, and imaging techniques can help determine their characteristics, location, and size. Complete surgical excision and pathological examination are considered the standard treatment and diagnostic method.

Adult Mesenteric Lymphangioma Resulting in Small Bowel Obstruction.

A mesenteric cystic lymphangioma (MCL) is a rare condition that primarily manifests in children. This case report illustrates an unusual presentation of an MCL causing a small bowel obstruction with volvulus in an adult. We present a 31-year-old male who presented to our hospital with a small bowel obstruction. He underwent laparotomy, and a lymphatic mass acting as a lead point and causing small bowel volvulus was discovered intra-operatively. The patient underwent a small bowel with associated mass resection and primary anastomosis; he recovered well. The final pathology demonstrated an MCL. Despite the MCL being a rare entity in adults, it must be considered as the differential for various abdominal pathologies. Although the majority of these masses lack malignant potential, they should be resected, as they pose a risk of mechanical obstruction, torsion, and perforation. Prior descriptions include individual case reports of symptomatic lesions, proposed non-operative management, and follow-up imaging.

Cystic Lymphangioma of Rectum-A Case Report and Review of Literature.

Colorectal cystic lymphangiomas are rare benign lesions. They are characterized by the presence of either single or multi-cystic spaces lined by endothelium. Though there are multiple case reports of right and transverse colonic lymphangioma; only around 10 cases of lymphangioma of the rectum have been reported. We present a case report of rectal lymphangioma with the relevant literature review.

Acquired cystic lymphangioma imitating breast cancer recurrence.

Cystic lymphangioma is a benign, congenital lymphatic malformation mainly encountered in infants during the first 2 years of life. It is rarely found in adults. Cystic lymphangioma of the breast is an extremely uncommon entity, and only a few cases have been described in the literature. We present the case of a 52-year-old female who had a mastectomy and chemoradiotherapy for breast cancer 8 years ago and in whom we discovered a suspicious mass of the treated breast through an annual imaging check-up. A cancer recurrence was suspected, and the patient underwent surgical resection. Pathology results were consistent with a cystic lymphangioma.