Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma.

BACKGROUND: The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing (scRNA-seq) was used to investigate the characteristics of cell subsets in the lesion tissues of CH patients. METHODS: Lymphoid tissue collected from CH patients and control donors for scRNA-seq analysis. Differentially expressed gene enrichment in major cell subpopulations as well as cell-cell communication were analyzed. At the same time, the expression and interactions of important VEGF signaling pathway molecules were analyzed, and potential transcription factors that could bind to KDR (VEGFR2) were predicted. RESULTS: The results of scRNA-seq showed that fibroblasts accounted for the largest proportion in the lymphatic lesions of CH patients. There was a significant increase in the proportion of lymphatic endothelial cell subsets between the cases and controls. The VEGF signaling pathway is enriched in lymphatic endothelial cells and participates in the regulation of cell-cell communication between lymphatic endothelial cells and other cells. The key regulatory gene KDR in the VEGF signaling pathway is highly expressed in CH patients and interacts with other differentially expressed EDN1, TAGLN, and CLDN5 Finally, we found that STAT1 could bind to the KDR promoter region, which may play an important role in promoting KDR up-regulation. CONCLUSION: Our comprehensive delineation of the cellular composition in tumor tissues of CH patients using single-cell RNA-sequencing identified the enrichment of lymphatic endothelial cells in CH and highlighted the activation of the VEGF signaling pathway in lymphoid endothelial cells as a potential modulator. The molecular and cellular pathogenesis of fetal cystic hygroma (CH) remains largely unknown. This study examined the distribution and gene expression signature of each cell subpopulation and the possible role of VEGF signaling in lymphatic endothelial cells in regulating the progression of CH by single-cell transcriptome sequencing. The enrichment of lymphatic endothelial cells in CH and the activation of the VEGF signaling pathway in lymphatic endothelial cells provide some clues to the pathogenesis of CH from the perspective of cell subpopulations.

[Complicated course of the postoperative period with the development of epidural hygroma and intracranial hypotension after removal of cranio-orbital meningioma. Clinical case and literature review]. / Oslozhnennoe techenie posleoperatsionnogo perioda s razvitiem epidural'noi gigromy i vnutricherepnoi gipotenzii posle udaleniya kranioorbital'noi meningiomy. Klinicheskii primer i obzor literatury.

Surgical removal of cranio-orbital meningiomas is an effective method of treating this pathology. Modern surgical techniques and technologies make it possible to perform operations with a low risk of complications. Lumbar drainage or repeated lumbar punctures are often used intraoperatively or in the early postoperative period to prevent nasal CSF leak; this rarely leads to the development of significant neurological symptoms. We present a case of the development of severe intracranial hypotension with the formation of a subdural hygroma in the early postoperative period after removal of a cranio-orbital meningioma in a 41-year-old patient. The operation was performed using an individual model and molds for simultaneous reconstruction of the bone defect with an implant made of polymethyl methacrylate. On the 1st and 2nd days after surgery, lumbar punctures were performed. From the 2nd day there was a progressive deterioration with the development of symptoms characteristic of intracranial hypotension. Computed tomography revealed an increasing displacement of the midline structures of the brain and an increasing volume of epidural fluid accumulation in the area of surgical intervention. Magnetic resonance imaging revealed characteristic signs of intracranial hypotension. Conservative treatment (bed rest, active hydration) had no effect. On the 6th day after surgery, an epidural blood patch procedure was performed and closed external drainage of the epidural hygroma was performed, and a rapid regression of neurological symptoms was noted. Our experience and literature data indicate that it is necessary to remember the possibility of developing clinically significant intracranial hypotension even after a single lumbar puncture. The formation of hygromas in the surgical area is characteristic of intracranial hypotension, but in most cases does not require additional surgical intervention and does not have a negative impact on the outcome of treatment. Conservative treatment of intracranial hypotension is the first choice and often sufficient. If there is no effect and the patient's condition worsens, it is necessary to perform an epidural blood patch procedure.

Peri-Hilar Cystic Lymphangioma Mimicking a Biliary Cystic Lesion Causing Biliary Obstruction: A Case Report and Literature Review.

BACKGROUND Lymphangiomas are rare and benign malformations of the lymphatic system. The presentation of intra-abdominal lymphangiomas, especially from within the hepatoduodenal ligament, is rare in the adult population. In this report, we examine a lymphangioma within the hepatoduodenal ligament resulting in biliary obstruction. CASE REPORT A 62-year-old man with surgical history of cholecystectomy presented to the hepatobiliary clinic for a peri-hilar cystic lesion identified on surveillance magnetic resonance imaging (MRI). The patient's MRI revealed a 5.5-cm cystic lesion at the peri-hilar region, likely arising from the biliary tree, which had been increasing in size and causing biliary dilatation. The patient underwent an endoscopic ultrasound, showing a 4.3×2.2 cm cystic structure likley arising from the cystic duct stump with internal septation. An endoscopic retrograde cholangiopancreatography (ERCP) was performed and demonstrated no communication between the biliary tree and the cystic lesion. Given the uncertain etiology of the lesion and its obstructive nature, the patient was moved to the operating room for a complete excision. A well-encapsulated cystic lesion was identified between the cystic duct and the common hepatic duct, which did not communicate with the biliary tree. Pathology confirmed the diagnosis of lymphangioma with features of vascular channel proliferation in the background of fibrotic stroma and lymphoid aggregates. The vascular channel proliferation demonstrated positive immunohistochemical staining for D2-40. At 3-year follow-up, there was no evidence of post-resection recurrence. CONCLUSIONS This case represents an acquired lymphangioma occurring as a sequela of cholecystectomy, likely caused by interruption of the lymphatic drainage system secondary to surgical manipulation.

Intra-abdominal Cystic Lymphangiomas: The Vanderbilt Experience.

INTRODUCTION: Lymphangiomas are rare, cystic tumors that represent congenital malformation of the lymphatic vessels. We reviewed our institution's experience treating abdominal lymphangiomas with the purpose of describing the clinical features, management, and outcomes of this rare pathology. METHODS: This is a single-institution, institutional review board-approved retrospective review of abdominal lymphangiomas presenting between January 2010 and February 2021. The diagnosis of lymphangioma was made on histopathology from either endoscopic or excisional biopsy of the lesion. Demographics, diagnostic imaging, histopathologic characteristics, and outcomes were analyzed. RESULTS: We identified 48 patients, of whom 29 (60%) were female, >18 y (38; 79%), with a mean age of 43 y at the time of diagnosis (range, 4 d-87 y). Tumors ranged in size from <1 cm to 30 cm. Only 1/3 were symptomatic, most commonly with abdominal pain (9; 19%) On preoperative imaging, mural nodules or thickened walls were present in one case, in which pathology was consistent with benign lymphangioma. The majority of lymphangiomas were associated with the small bowel or its mesentery (31; 65%), followed by the colon/omentum (7; 15%). Most patients underwent surgical excision (29; 60%) with incomplete excision in one patient due to extensive local invasion, and three (10%) patients required multivisceral resection. The median duration of the follow-up was 13 mo (range, 1-105 mo), during which time, none of the patients developed malignancy. CONCLUSIONS: Most abdominal lymphangiomas arise from the small bowel and are found incidentally and have a favorable prognosis. Resection should be reserved for symptomatic lesions or when there is a diagnostic uncertainty.

Cystic pancreatic lymphangioma: a case report.

BACKGROUND: Lymphangiomas are benign vascular tumors arising from the lymphatic system. They commonly affect the head and neck regions. Pancreatic involvement is extremely rare. Even though they are rare, it should be considered as a differential diagnosis for patients who present with pancreatic mass. CASE PRESENTATION: We report the case of a 6-year-old African male patient who presented with abdominal mass and dull aching pain of 6 months duration. He was examined and underwent excision, with biopsy showing pancreatic lymphangioma. CONCLUSION: These tumors are benign and slow growing and have potential to regress spontaneously. Thus, most literature agrees that surgical interventions should be reserved for symptomatic cases.

A case of cystic lymphangioma arising from the parauterine tissue.

A 57-year-old woman, gravida 3, para 3, with no complaints visited our hospital for right-sided adnexal tumor found incidentally in cancer screening. She had no medical history, surgical history, or gynecological disease. Imaging studies showed a 5-cm lobular cystic tumor on the right side of uterus. We suspected right hydrosalpinx and decided to perform diagnostic laparoscopy. During laparoscopy, the right adnexa was found to be atrophic, and the tumor was located in the broad ligament. The tumor was observed to be a multilocular cyst containing yellow fluid that developed from the right parauterine tissue. The tumor was resected from the surrounding tissue. Histological examination revealed that the multilocular cyst contained a vascular component surrounding the lymphatic endothelium and was decided to be a cystic lymphangioma. The patient was followed up and there was no evidence of recurrence at postoperative 7 months. We experienced a very rare case of lymphangioma arising from the parauterine tissue. The laparoscopic approach can assist with both diagnosis and treatment.

Giant retroperitoneal lymphangioma in a 70-year-old male: a case report.

Lymphangiomas are relatively rare benign congenital tumors of the lymphatic system. They are usually discovered during childhood and typically occur in the neck and axillary regions. Retroperitoneal lymphangiomas are a rare occurrence and represent 1% of all cases. Here, we presented a 70-year-old male who presented with abdominal discomfort and chronic constipation in the last three years. A computerized tomography scan showed a giant abdominal hypodense cystic mass measuring 195 x 145 mm, which laminates the abdominal aorta, the left iliac vessels, and the left ureter. The patient underwent surgical exploration. Due to the giant cystic volume, it was carefully opened, aspirated, and removed. The histopathological examination showed a retroperitoneal lymphangioma. In conclusion, giant retroperitoneal lymphangioma in an adult is a rare occurrence. The primary treatment is complete surgical excision. Histopathological examination is essential for diagnosis confirmation.

A Case Report of Huge Lymphangioma over the Chest Wall: A Rare Presentation of a Newborn.

BACKGROUND: Lymphangioma is a rare benign tumor of lymphatic system that is often diagnosed in the first few years of life. The presentation and complications depend on the site and the size of the lesion. CLINICAL DESCRIPTION: This was a term male newborn weighing 3230g born to a 38 year old para IIV mother. Delivery was spontaneous and uneventful. The neonate was active, had no gross dysmorphic feature except the huge, 20cm by 28cm cystic, non-tender mass over the left lateral chest area. DIAGNOSIS: Lymphangioma was diagnosed based on chest ultrasound, there was a large multiloculated cystic lesion over left lateral chest, and the cyst had no communication with spinal canal, and had no solid component. THERAPY: The patient was observed for complications, otherwise not needing intervention in the first few days. OUTCOMES: He developed superinfection of the mass, for which intravenous antibiotics administered, infection was controlled and surgery was postponed until a few months. However, the patient was presented with severe malnutrition at the age of three months and subsequently lost to follow up. CONCLUSION: Huge lymphangiomas at neonatal age are likely to get superinfected; a close observation for signs of complications is needed. Though surgical intervention could be postponed until the baby grows to avoid the complications of surgery, adequate counseling is needed to reassure the parents about the benign and treatable nature of the disease. And individualized decision on earlier surgical intervention has to be considered with adequate postoperative care whenever follow up is not guaranteed.

[A Case of Giant Mesenteric Lymphangioma in an Adult].

A 26-year-old man with left inguinal pain and frequent urination was examined. An abdominal ultrasound revealed a cystic lesion. In further examinations, CT and MRI showed a large cystic lesion of about 20 cm in size, connected to mesenteric- derived blood vessels. We suspected a huge mesenteric lymphangioma and decided to perform a laparotomy. A tumor was seen in the mesentery of the jejunum and adhered to the duodenum widely. The tumor could be removed safely without resection of the duodenum by first sucking the contents and shrinking the tumor. The final pathological diagnosis was mesenteric lymphangioma. Adult mesenteric lymphangiomas measuring larger than 20 cm are relatively rare. We review the case in the context of the relevant literature.

Anesthetic management of a patient presenting with huge neck lymphatic cyst.

Lymphatic cyst in the cervical region presents a great challenge to the anesthesiologist. The anesthetic difficulties are because of the extension of the cyst, difficult airway, postoperative respiratory obstruction, and coexisting anomalies. The management of such patients depends on direct communication between the surgeon and anesthesiologist. We hereby present a case of a 53-year-old male presenting with lymphatic cyst of the cervicothoracic region with dysphagia and dyspnea, posted for direct laryngoscopy and biopsy under general anesthesia. Awake fiberoptic intubation was done in this patient successfully in spite of totally distorted airway anatomy.

Résumé Le kyste lymphatique dans la région cervicale présente un grand défi pour l'anesthésiste. Les difficultés anesthésiques sont dues à l'extension du kyste, des voies respiratoires difficiles, une obstruction respiratoire postopératoire et des anomalies coexistantes. La prise en charge de ces patients dépend de communication directe entre le chirurgien et l'anesthésiste. Nous présentons ici le cas d'un homme de 53 ans présentant une atteinte lymphatique kyste de la région cervicothoracique avec dysphagie et dyspnée, posté pour laryngoscopie directe et biopsie sous anesthésie générale. Éveillé l'intubation par fibre optique a été réalisée avec succès chez ce patient malgré une anatomie des voies respiratoires totalement déformée. Mots-clés: Hygroma kystique, voies aériennes difficiles, intubation fibre optique.

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.

Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs.

Cystic hygroma is a malformation of the lymphatic and vascular system and is recognized as a benign congenital tumor that affects humans and animals in the perinatal period. This congeni-tal disorder is rarely described in animals, and until today, cystic hygroma in pigs has not been described in the literature. In a purebred Piètrain litter with twelve live-born piglets, cystic hy-groma was noticed on the rump of two male pigs within the first week of life. In addition, a third case of a crossbred weaner (Large White × Landrace) was detected during a herd examina-tion. To rule out common differential diagnoses, e.g., abscess or hematoma, further clinical and pathological investigations were conducted. During clinical examination, a painless and soft mass, which was compressible, was detected on the rump of all affected animals. The ultra-sonographic examination revealed a fluid-filled and cavernous subcutaneous structure. In addi-tion, a puncture of the cyst was conducted, revealing a serosanguinous fluid with negative bacte-riological culture. In all cases, a necropsy was performed, showing that the animals had fluid-filled cysts lined by well-differentiated lymphatic endothelium. Based on the clinicopathological examination, cystic hygroma was diagnosed. Furthermore, SNP array genotyping and whole-genome sequencing was performed and provided no evidence for a chromosomal disorder. In the Piètrain family, several genome regions were homozygous in both affected piglets. None-theless, a dominant acting de novo germline variant could not be ruled out, and therefore differ-ent filtering strategies were used to find pathogenic variants. The herein presented lists of pri-vate variants after filtering against hundreds of control genomes provide no plausible candidate and no shared variants among the two sequenced cases. Therefore, further studies are needed to evaluate possible genetic etiology. In general, systematic surveillance is needed to identify ge-netic defects as early as possible and to avoid the occurrence of losses in the pig population.

Cystic hygroma of the neck - case report.

Cystic hygromas (CHs) are benign congenital malformations of the lymphatic system mainly diagnosed in small children aged less than two years old. They may give a multitude of local, sometimes severe complications. The most used method of treatment is surgical removal. In this paper, we present the case of a CH of a 13-year-old boy, localized in the right lateral region of the neck, diagnosed through magnetic resonance imaging (MRI), with excellent results of the surgical treatment.

Cervical Cystic Lymphangiomas in Adults: A Case Series of a Rare Entity with Literature Review.

Cystic lymphangiomas (CLs) are benign congenital lymphatic malformations that are thought to represent developmental abnormalities rather than true neoplasms. The head and neck region is the most common site of occurrence, although CLs can be present elsewhere in the body including the axilla, mediastinum, groin, and retroperitoneum. More than 80% of CLs present before the age of two. Occurrence in adults is rare with only a few cases reported in the literature. We describe five cases of cervical CLs in adults and discuss imaging modalities used for diagnostics, clinicopathologic features, and therapeutic options.

Outcome of 45,X fetuses with cystic hygroma: A systematic review.

This objective of this systematic review was to estimate live birth rate and explore prognostic indicators in fetuses with 45,X karyotype and a posterior cystic hygroma (CH). Electronic databases were searched and studies reporting pregnancy outcomes (termination, spontaneous abortion, demise, or live birth) for fetuses with 45,X karyotype and a CH diagnosed on ultrasound were included. For cases of survival, CH characteristics, presence of hydrops fetalis, or concomitant anomalies, delivery details, and postnatal outcomes were summarized. A total of 95 studies, including 535 cases, met inclusion criteria: 285 (53.3%) pregnancies were terminated, 72 (13.5%) had spontaneous abortion or demise, 164 (30.7%) had unspecified pregnancy failure, and 14 (2.6%) were live births. Among live births with data available, all CH measured 2-7 cm, more than half were septate, and almost all regressed in size or eventually disappeared. Hydrops fetalis was noted in five cases. Of the eight live births with neonatal outcomes available, three neonates died shortly after birth and five survived past the neonatal period. This review suggests that diagnosis of CH in a 45,X fetus is associated with an estimated live birth rate of 2.6%, but only 1% survive to infancy. Prognosis appears to improve with CH regression.

Linfangioma quístico retroperitoneal. Presentación de un caso / Retroperitoneal cystic lymphangioma. A case presentation

Introducción: Los linfagiomas quísticos son lesiones benignas hamartomatosas del sistema vascular linfático muy poco frecuentes. La variedad retroperitoneal supone aproximadamente el 1 por ciento de todos los linfangiomas; estos muestran un diapasón amplio en su presentación clínica. Presentación del caso: Se presenta el caso de un paciente masculino de 29 años que acudió por dolor abdominal epigástrico y en hipocondrio derecho de tres meses de evolución sin masa palpable, los estudios de imágenes practicados mostraron una lesión retroperitoneal en contacto con la cabeza del páncreas e independiente a esta; se realiza exéresis quirúrgica y biopsia que concluye linfangioma quístico retroperitoneal. Discusión: a pesar de la benignidad en su origen patológico, según el tamaño y la localización anatómica, pueden presentar severas complicaciones como la infección intraquistica, la peritonitis por perforación del proceso y la hemorragia, elementos que evidencian la importancia de un diagnóstico precoz y cirugía temprana con exéresis completa. Conclusiones: nuestro paciente no presentó complicaciones mayores en el perioperatorio y ha tenido una evolución favorable libre de síntomas(AU)

Introduction: Cystic lymphangioma are infrequent bening hamartomatous lesions of the vascular lynphatic system. The retroperitoneal type is approximately 1 of all lymphangiomas and they have a wide range of forms of clinical presentations. Presentation of the case: A 29 years old male patient complained of pain in the epigastric abdomen and right hypochondrium of three month avalation without a palpable mass. Imaginenological studies showed a retroperitoneal lesion in contact with but independent of the head of the pancreas. Surgical removal and biopsy of the lession revealed a retroperitoneal cystic lymphangioma. Discussion: Although the lesion was bening according to its pathological origin its size and anatomical localization can cause several complications such as intracystic infection, peritonitis as a result of perforation and hemorrage showing the importance of an early diagnosis and complete surgical removal. Conclusions: Our patient dis not have major complications during surgery and has had a favorable asymtomatic outcome(EU)

Rare cystic lymphangioma in the chest wall of an adult patient: A case report and comprehensive review of the literature.

Lymphangiomatosis is a rare, benign, hyperproliferative hamartoma composed of dilated lymphatic vessels. Cystic lymphangioma (CL) in the chest wall in an adult patient is rare, but we focus on this type of patient in our present case study. A 54-year-old female patient with a painless mass in her chest wall went without treatment for two years following diagnosis. After consenting to treatment, Doppler color flow imaging (DCFI), chest CT, and MRI revealed a cystic lesion with multiple thin septula in the left chest. Surgical resection was performed, and histopathological examination identified a cystic lymphangioma. The patient did not experience recurrence during the follow-up period.

[Cystic hygroma of the neck in a young adult: about a case and literature review]. / Lymphangiome kystique du cou chez un adulte jeune: à propos d'un cas et revue de la littérature.

Cystic hygromas are congenital malformations affecting the lymphatic system. These are rare benign dyssembryoplastic lesions mainly affecting the head and neck, in particular the posterior triangle of the neck. They usually occur during childhood and exceptionally in adults. We here report a clinical case of cystic hygroma of the neck in a 22-year old subject.

Primary Cystic Lymphangioma of the Spleen in an Adult Dog.

Proliferative disorders of lymphatic origin in animals are mostly congenital or occur within the first few months of life. Involvement of internal organs is extremely infrequent. A seven-year-old entire female mixed-breed dog was presented with apathy and poor appetite. Abdominal ultrasonography revealed a focally enlarged spleen with an anechoic round lesion. Splenectomy was performed and pathological examination demonstrated a sponge-like, compressible tumour composed of endothelium-lined vascular cystic spaces filled with eosinophilic proteinaceous material lacking erythrocytes. Immunohistochemical stains showed that cyst-lining cells were strongly positive for CD31 and factor VIII and focally positive for lymphatic vessel endothelial hyaluronan receptor 1 (LYVE-1). Based on these findings, the lesion was identified as splenic cystic lymphangioma. To the best of our knowledge, this is the first description of solitary lymphangioma of the spleen in animals.