Rare Vascular Tumor Research Articles

Bilateral choroidal haemangioma in an otherwise normal middle aged female

Circumscribed choroidal hemangioma is a rare benign vascular tumor. It is of two types, circumsribed and diffuse. Circumscribed choroidal hemangioma is a well demarcated solitary lesion, usually situated posterior to equator, while diffuse have ill defined thickening of choroid involving more than one zone or quadrant. Patient may present with progressive diminution of vision, metamorphopsia, floaters and visual field defect. The visual symptoms are because of associated subretinal fluid, cystoid macular edema, and in long standing cases, retinal pigment epithelium changes, subretinal fibrosis and retinoschisis. It must be distinguished from amelanotic melanoma and choroidal metastasis. Investigation such as ultrasound, optic coherence tomography, fundus fluorescein angiography, indocyanin green angiography can be used to confirm the diagnosis. Multiple treatment options like transpupillary thermotherapy, photodynamic therapy, plaque brachytherapy and external beam radiotherapy.

Rare adrenal cavernous hemangioma: a case report highlighting diagnostic challenges.

Adrenal cavernous hemangiomas are rare benign vascular tumors that pose significant diagnostic challenges. Despite their benign nature, features overlapping with malignancies often complicate management decisions. A 64-year-old male presented with a 4.4 cm necrotic left adrenal mass discovered incidentally on imaging. His medical history included papillary thyroid carcinoma, with subsequent thyroidectomy and radioactive iodine ablation. Evaluations for hiccups revealed multiple lung nodules, hypertrophic cardiomyopathy, and anemia. Given the patient's previous cancer history, elevated aldosterone/renin ratio, and mass size, our multidisciplinary tumor board decided to proceed with a left adrenalectomy. Post-surgical pathology confirmed a diagnosis of adrenal cavernous hemangioma. The occurrence of ambiguous adrenal mass with other pathologies, such as our patient's papillary thyroid carcinoma, complicates the diagnostic and therapeutic landscape. As demonstrated in our case, opting for surgery remains a viable solution for adrenal cavernous hemangiomas, especially for masses greater than 4 cm. Interdisciplinary collaboration, exemplified by our tumor board's decision-making process, is crucial for optimal management. This case underscores the need for a multifaceted approach when confronting adrenal masses with such diagnostic ambiguity.

Cavernous hemangioma of breast: A case report

Cavernous hemangioma of the breast is a rare benign vascular tumor, whose clinical diagnosis is challenging. We describe a case of cavernous hemangioma in an 81-year-old female, who presented with a history of a slow-growing lump in the left breast from the past few months. Mammography revealed a circumscribed high-density mass with microlobulated margins in the lower outer quadrant with no associated findings. Targeted sonography revealed an isoechoic heterogeneous solid mass in the subcutaneous plane with no associated vascularity on color doppler. It was assigned as BI-RADS IV B and an image-guided core biopsy was done. The histopathology report was of cavernous hemangioma. A close follow-up was advised.

Kaposiform hemangioendotheliomas and tufted angiomas: Sirolimus for treating children

Introduction. Kaposiform hemangioendothelioma (KHE) and tufted angioma (TA) are extremely rare vascular tumors characterized by pathologically progressive angiogenesis and lymphangiogenesis. They are also associated with the development of the KazabachMerritt Phenomenon (KMP; Kasabach-Merritt Phenomenon).Material and methods. 8 patients (5 boys, 3 girls) with kaposiform hemangioendothelioma (two out of them with Kazabakh-Merritt syndrome) and 4 patients (3 boys, 1 girl) with tufted angioma were treated at the Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University (Moscow, Russia) . All patients were prescribed Sirolimus therapy for antiproliferative purpose.Results. In all children, positive changes were registered: reduction of vascular tumor volume, gradual improvement of clinical picture and control of complications: pain syndrome, KMP, improvement or restoration of functions in affected organs /systems (increase/restoration of movement volume in joints, compensation for length discrepancy in lower legs). Complete resorption of vascular tumors and clinical symptoms were registered in 3 patients.Conclusion. The obtained encouraging results after Sirolimus therapy prescribed for treating KME and TA allow the authors to recommend this therapy to patients with KME with or without KMP and TA. However, further researches with a large sample of participants is required to confirm the obtained results.

Ruptured Medullary Hemangioblastoma Mimicking a Craniocervical Junction Dural Arteriovenous Fistula with a Pseudoaneurysm.

Hemangioblastomas (HBMs) are rare vascular tumors commonly located in the posterior fossa of adults. A mid-50s patient presented with sudden unconsciousness. Computed tomography scans revealed acute hemorrhages around the posterior fossa, predominantly in the subarachnoid space. Digital subtraction angiography (DSA) revealed an 8-mm round lesion filled with contrast agent, fed by the C1 segmental artery of the left vertebral artery (VA), showing early venous drainage to the spinal cord and brainstem. Emergent embolization was attempted under suspicion of a ruptured dural arteriovenous fistula, resulting in parent artery occlusion due to feeder selection failure. Follow-up DSA after a month depicted a persistent aneurysm via collaterals from both VAs. Consequently, the decision was made to proceed with surgical intervention, leading to the resection of the lesion, confirming its diagnosis as a HBM through histological examination. This case underscores the potential for misdiagnosis when HBMs with an intratumoral shunt mimic vascular shunt lesions.

Successful Management of Neonatal Kaposiform Haemangioendothelioma and Kasabach-Merritt Phenomenon Using Sirolimus and Surgical Excision

: Kaposiform haemangioendothelioma (KHE) is a rare vascular tumor, occurring predominantly in infancy, with an incidence of 0.091 per 100,000 children. Typically presenting as a solitary large cutaneous lesion, with no distant metastases. Children with KHE are at high-risk of developing Kasabach-Merritt Phenomenon (KMP), a consumptive coagulopathy. KMP is defined as profound thrombocytopenia, hypofibrinogenemia, and elevated D-dimer. KMP has a mortality of 10 - 30%. Due to its rarity, there is little robust evidence for KHE management. Rapamycin (mTOR) inhibitors have been shown to be a safe and effective treatment. This report is regarding a newborn term female who presented at birth with an abdominal cutaneous vascular malformation, subsequently developing life-threatening thrombocytopenia and coagulopathy. She was diagnosed with KHE complicated by KMP, with an excellent response to sirolimus treatment, with subsequent lesion resection.

A Case Report and Review of Literature: Epithelioid Hemangioendothelioma—An Uncommon Challenging Case

Abstract Introduction Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor of soft tissue and bone that may uncommonly occur in the liver, lung, and head and neck region. EHEs have a higher predilection for recurrence at the local site as well as distant metastasis. Surgical excision is important and is the treatment in localized diseases. A decision to give adjuvant radiotherapy should be subjective and may differ on case-to-case basis. Limited studies are available exploring the role of targeted or systemic therapy. Case Presentation A 56-year-old lady represented with right-sided submandibular region EHE with bilateral lung metastasis. The patient underwent surgery and radiotherapy followed by targeted therapy tab pazopanib for systemic control. At 2 years of follow-up, positron emission tomography-computed tomography showed local regional control and stable systemic diseases. Conclusion The uncertainty in choosing the most suitable treatment of EHE patients is high and may result in dissatisfactory outcomes among several patients. The present case study identified a treatment dilemma making management more challenging for rare EHE with mandibular involvement.

Trasplante hepático por hemangioendotelioma hepático difuso

Hepatic epithelioid hemangioendothelioma (HEHE) is an extremely rare vascular tumor of unclear etiology. The diagnosis is difficult due to the absence of specific clinical characteristics, laboratory tests results and radiological findings. The management of HEHE depends on tumor size, location, extrahepatic extension, and patients’ medical status. Liver transplantation is one of the possible options with good clinical results, although the risk of recurrence is not negligible. We present a new case of HEHE managed with liver transplantation.

Head and Neck Hemangiopericytoma: A Rare Case Report and Literature Review.

Hemangiopericytomas (HPCs) are rare vascular tumors, and head and neck hemangiopericytoma (HNHPC) accounts for 11% to 16% of all HPCs, possibly occurring at any age. However, according to a recent study, HNHPC was most frequently observed in middle-aged adults and had a slight predominance of female patients. In the present case, we report the successful treatment of HNHPC.

Platelet functional abnormalities in pediatric patients with kaposiform hemangioendothelioma/Kasabach-Merritt phenomenon.

Kaposiform hemangioendothelioma (KHE) is a rare vascular tumor of infancy that is commonly associated with a life-threatening thrombocytopenic condition, Kasabach-Merritt phenomenon (KMP). Platelet CLEC-2, tumor podoplanin interaction is considered the key mechanism of platelet clearance in these patients. Here, we aimed to assess platelet functionality in such patients. Three groups of 6 to 9 children were enrolled: group A with KHE/KMP without hematologic response (HR) to therapy; group B with KHE/KMP with HR; and group C with healthy children. Platelet functionality was assessed by continuous and end point flow cytometry, low-angle light scattering analysis (LaSca), fluorescent microscopy of blood smears, and exvivo thrombi formation. Platelet integrin activation in response to a combination of CRP (GPVI agonist) and TRAP-6 (PAR1 agonist), as well as calcium mobilization and integrin activation in response to CRP or rhodocytin (CLEC-2 agonist) alone, were significantly diminished in groups A and B. At the same time, platelet responses to ADP with or without TRAP-6 were unaltered. Thrombi formation from collagen in parallel plate flow chambers was also noticeably decreased in groups A and B. In silico analysis of these results predicted diminished amounts of CLEC-2 on the platelet surface of patients, which was further confirmed by immunofluorescence microscopy and flow cytometry. In addition, we also noted a decrease in GPVI levels on platelets from group A. In KHE/KMP, platelet responses induced by CLEC-2 or GPVI activation are impaired because of the diminished number of receptors on the platelet surface. This impairment correlates with the severity of the disease and resolves as the patient recovers.

O04 Segmental congenital haemangioma: a novel subtype of a rare vascular tumour

Abstract Congenital haemangiomas (CH) are rare vascular tumours present at birth. These high-flow vascular lesions can lead to significant morbidity secondary to high-output cardiac failure (HOCF) and Kasabach–Merritt phenomenon (KMP). They are classically round/oval lesions and present anywhere on the body. The majority involute spontaneously in the first 2 years of life. We describe three patients who presented with an unusual segmental pattern CH of the head/scalp: the first with a segmental CH of the left forehead, extending over the left eye with associated ipsilateral heterochromia and anisocoria; the second with a segmental ulcerated CH of the right scalp – catastrophic haemorrhage from the CH sadly resulted in death at age 6 weeks; the third with a left forehead segmental CH. None of the CH in this series developed HOCF or KMP. All lesions were consistent with CH on sonography and histology where available. Patients 1 and 3 exhibited spontaneous involution in the first 2 years of life. Segmental CH have been reported once before in a series of three patients, although involving the arm/trunk rather than the head. Two of the three patients developed KMP/HOCF. The genetic basis in this cohort was identical to that of classic nonsegmental CH, activating somatic mutations in GNAQ/11. The striking segmental pattern in our cohort is likely attributable to the timing of the somatic hit during development. Identification of this pattern in CH gives important insights into vascular tumorigenesis. Further cohort studies are needed to determine if this group has differing clinical outcomes from classical CH.

P22 Life-threatening bleeding is a serious potential complication of ulcerated congenital haemangiomas: three case reports

Abstract Congenital haemangiomas (CH) are rare vascular tumours that can be complicated by high-output heart failure (HOHF), transient thrombocytopaenia and ulceration. We present three patients who had life-threatening bleeding from the ulcerated CH, which was fatal for one of the patients. The first patient was born with a large CH of his left thigh, causing thrombocytopaenia and HOHF, requiring ventilation. He was discharged home after 3 weeks, but subsequently developed an ulceration and had a profuse bleeding following a dressing change at home. He required admission to PICU and ventilation support. The second patient was born with a large segmental CH of his right scalp with two ulcerated areas, without HOHF or thrombocytopaenia. He developed a massive bleeding from the ulcerated area at 6 weeks of age, was admitted to PICU with cardiac arrest, but died a few hours later due to multiorgan failure. The third patient was born at 29 weeks’ gestation with a large CH of her right thigh which was ulcerated. She had a profuse arterial bleeding after the dressing was removed in the hospital, requiring emergency surgery and admission to PICU. Although it is a rare complication, neonates/infants with ulcerated CH are at risk for severe, life-threatening arterial bleeding. If an ulceration is present, it needs to be protected with a suitable dressing, until it heals completely. Parents need to be educated on appropriate dressing changing technique, have the support of local tissue viability nurses and learn basic CPR techniques should arterial bleeding occur and necessitate CPR.

Hepatic small vessel neoplasm: not totally benign, not yet malignant.

Hepatic small vessel neoplasm (HSVN) is a rare vascular tumor with few reports in the literature. While imaging findings may show characteristic enhancement patterns, limited available literature may not reveal the full potential for image-based diagnosis. Histologically, HSVN mimics other entities, though certain morphologic and immunohistochemical findings provide clues for diagnosis. However, HSVN still provides diagnostic challenges, especially on core biopsies with limited material for morphologic and molecular evaluation. While current recommendations are surgical resection and close observation, the long-term course of the tumor is unknown. We report a case of HSVN in a liver with additional feature of organized lymphoid aggregates necessitating additional hematopathology consultation and workup to rule out concurrent entities.

Composite hemangioendothelioma- report of two cases located in bone and review of the literature

BackgroundComposite hemangioendothelioma (CHE) is a rare intermediate-grade vascular tumor characterized by a complex histologic component. It occasionally metastasizes, but local recurrence is not uncommon. CHE is mainly located in the extremities’ distal dermis and subcutaneous soft tissues. It is rarely located in the bone. We report here two cases originally occurred in bone.Case presentationThe first case of CHE occurred solely on the left pubis. The second case is a patient post-resection of CHE in the manubrium sterni 10 years ago [1], who presented with multiple lesions in the left ilium and T6, T12 vertebra. All these lesions in the two cases showed osteolytic bone destruction on computed tomography (CT) scans and showed relatively high signal intensity on the fat-suppressed sequences of T2-weighted magnetic resonance (MR) images and isointense signal intensity on T1-weighted MR images. After injection of contrast agent (Gd-DTPA), the lesions showed inhomogeneous enhancement. 2-deoxy-2 [F-18] fluoro-D-glucose positron emission tomography-computed tomography (18FDG PET-CT) showed increased FDG uptake in these osteolytic bone destruction areas with SUVmax around 5.0. Both patients underwent surgery. Lesions in the left pubis and left ilium were confirmed by postoperative pathology while lesions on the vertebrae were only biopsied, not surgically resected. The first patient had no recurrence or metastasis in 5 years after surgery. The second patient had surgery recently and is still being followed up.ConclusionsCHE occurring in bone is rarely reported. Our report provides more detailed information on the diagnosis of CHE. Given that CHE is locally aggressive and occasionally metastatic, PET-CT may be helpful in staging and follow-up.

Anastomosing haemangioma of the adrenal gland: Aclinicopathological series of seven cases.

Anastomosing haemangioma is a rare benign vascular neoplasm that may histologically mimic angiosarcoma. We report the largest single institution series of anastomosing haemangioma in the adrenal gland with emphasis on clinical and radiological features. Our laboratory information system was searched for a 25-year period (1999-2023), yielding seven cases confirmed as anastomosing haemangioma of the adrenal gland after pathologicalre-review. Clinical, radiological and pathological information was obtained from medical charts and submitting pathologists. Of a total of seven patients, four (57.1%) were men and three women, ranging in age from 37 to 75 years (mean = 61). Six of seven patients underwent adrenalectomies and one had radical nephrectomy. Tumours ranged from 0.7 to 6.4 cm (mean = 2.1 cm) and five of seven (71%) were grossly well-circumscribed. Five of seven lesions were found incidentally at imaging for other indications. All tumours were unifocal except one, which presented with multifocal disease with a concurrent adjacent retroperitoneal anastomosing haemangioma. Three of five tumours imaged with contrast enhancement were almost completely hyperenhancing with a small central non-enhancing portion, features overlapping with pheochromocytoma. One of seven tumours involved the peri-adrenal adipose tissue with a focally infiltrative pattern. There were no recurrences or metastases in six patients with available follow-up data (median = 95 months). Benign anastomosing haemangiomas of the adrenal gland tend to occur in older patients, may mimic pheochromocytoma on imaging and must be distinguished from angiosarcoma pathologically. Better awareness of this entity by pathologists, radiologists and surgeons is crucial to appropriate work-up, diagnosis and management.

A case of successfully resected Shamblin type III carotid body tumour without vascular reconstruction

Carotid body tumours (CBT) are rare vascular neoplasms arising from the bifurcation of the common carotid artery, and are benign tumors with low incidence, slow growth, and low rate for malignant transformation. A rare functional CBT may produce neuroendocrine secretions causing catecholamine-related symptoms, such as palpitations, headaches, hypertension, tachycardia, or flushing. These tumours have classic radiographic features. These lesions splay apart the internal (ICA) and external carotid arteries (ECA), and as it enlarges, it will encase, but not narrow the ICA and ECA-Lyre’s sign. If a diagnosis of CBT is suspected following a detailed physical examination, the diagnosis is almost always established by radiological imaging methods such as duplex ultrasonography, computed tomography (CT) angiography, magnetic resonance (MR) angiography, and digital subtraction angiography. These tumours were classified by Shamblin, according to the gross tumor vessel relationship and was based on the radiology, intraoperative findings and postoperative specimen examination. Group 1 tumors were minimally attached to the vessels and easily resectable. Group 2 tumors seemed to partially surround the vessel and were more adherent to vessel adventitia. These tumors were difficult to dissect but amenable to careful resection. Shamblin group 3 tumors had an intimate adherent relationship to the entire circumference of the carotid bifurcation and are usually inoperable. Surgical excision still remains the gold standard therapeutic modality for the treatment of CBTs. Radiotherapy is an alternative treatment modality which may decrease the tumor size or stop its growth. It is recommended for patients who cannot undergo surgery on account of extensive involvement, multiple tumors, and high operative and anesthetic risk.

Application of Digital Subtraction Angiography in Predicting the Outcomes of Intraoperative Hemorrhage of Juvenile Nasopharyngeal Angiofibroma

Juvenile nasopharyngeal angiofibroma (JNA) is a very rare hemorrhagic vascular tumor that predominantly affects adolescent boys. The tumor is relatively large when detected, and the risk of intraoperative bleeding is high. We aimed to examine factors associated with intraoperative blood loss in JNA surgery. Thirteen patients with JNA who underwent surgery at the Jikei University Hospital between 2009 and 2020 were retrospectively reviewed, and factors associated with blood loss were examined by single regression analysis. The mean age was 20.8±7.7years. Preoperative angiographic images were evaluated in 9 of the 13 cases. The 6 patients with the largest bleeding volumes, all had residual nutrient vessels from the internal carotid artery (ICA), with an average number of 2.5 vessels. The mean blood loss of patients with residual nutrient vessels from the ICA was 3037±2568mL. Single regression analysis of bleeding volume against the number of remaining nutrient vessels from the ICA and the total peak contrast density of nutrient vessels (Cmax) standardized by region of interest showed that the coefficient was positive (P<0.05 for both), confirming a significant correlation between the 2, respectively. The amount of bleeding significantly correlated with the number of remaining nutrient vessels from the ICA after preoperative embolization and with the total Cmax/region of interest. The ability to predict the amount of preoperative blood loss using this study will facilitate proposals for external incisions in patients with JNA.

18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography in a Rare Case of Epithelioid Hemangioendothelioma - A Diagnostic Challenge.

Our case highlights the 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) scan findings in a rare case of biopsy-proven epithelioid hemangioendothelioma (EHE) in a 66-year-old woman with multi-organ involvement (lung, liver, and bone) who was subsequently treated with palliative radiation therapy and oral pazopanib. Furthermore, follow-up 18F-FDG PET/CT findings are detailed. EHE is a rare malignant vascular neoplasm (<1% of all vascular tumors) with an epithelioid and histiocytoid appearance arising from the vascular endothelial and preendothelial cells.

Patient with composite haemangioendothelioma containing angiosarcoma-like areas in the setting of congenital lymphoedema mimicking Stewart-Treves syndrome: a case report

BackgroundComposite haemangioendothelioma is a rare vascular neoplasm with indolent to intermediate malignant potential. Diagnosis of this disease relays on histopathological identification of at least two different morphologically distinctive vascular components in proper clinical settings. Exceedingly rare cases of this neoplasm can exhibit areas resembling high-grade angiosarcoma, which does not change the biological behaviour. Such lesions tend to occur in the setting of chronic lymphoedema and thus, can mimic Stewart-Treves syndrome, which has a much worse clinical outcome and prognosis.Case presentationWe present a case of 49 years old male suffering from chronic lymphoedema of the left lower extremity who had developed a composite haemangioendothelioma with high grade angiosarcoma-like areas mimicking the Stewart-Treves syndrome. Given the multifocality of the disease, the only potentially curable surgical treatment would be hemipelvectomy, which was refused by the patient. The patient has been followed-up, with no signs of local progression of the remaining disease, nor a distant spread outside the involved extremity for two years.ConclusionsComposite haemangioendothelioma represents a rare malignant vascular tumour, with significantly more favourable biological behaviour than angiosarcoma, even in cases where angiosarcoma-like areas are present. For that reason, composite haemangioendothelioma can be easily misdiagnosed as true angiosarcoma. The rarity of this disease unfortunately hampers the development of clinical practice guidelines and the implementation of treatment recommendations. Most of the patients with localized tumour are treated by wide surgical resection, without neo- or adjuvant radiotherapy or chemotherapy. However, in the case of this diagnosis, the watch-and-wait approach is better than mutilating procedure, highlighting the necessity of establishing of the correct diagnosis.

Prenatal diagnosis of cavernous hemangioma in a specialist hospital in Port Harcourt, South South Nigeria. A case report and review of the literature

Congenital cavernous hemangiomas are rare benign vascular tumors that are present at birth. They can occur in various organs of the body. Prenatal diagnosis can be done using ultrasound and magnetic resonance imaging. Very few cases have been described in the literature in Port Harcourt, south-south Nigeria. We present the case of a 33-year-old P3+1 mother who presented for a third-trimester fetal ultrasound scan at 35weeks gestation in a specialist hospital in Port Harcourt. The ultrasound scan showed a live fetus with a huge multiloculated soft tissue mass measuring ~ 11.4cmx8.7cm with areas of minimal flow located in the anterior aspect of the neck, chest, and abdomen extending to the ipsilateral arm and forearm sparing the fingers. No other gross abnormalities were noted. A magnetic resonance imaging (MRI) study was also done to further characterize the aforementioned mass. A diagnosis of congenital hemangioma of the neck, chest, and upper limb was made. The pregnancy progressed and a planned cesarean section was done at 38 weeks with the birth of a live 3.5kg female baby. An excision biopsy of the mass was done at the age of 2 months confirming the diagnosis of a congenital cavernous haemangioma.