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Histopathology Jan 2022Recent molecular advances have shed significant light on the classification of vascular tumours. Except for haemangiomas, vascular lesions remain difficult to diagnose,... (Review)
Review
Recent molecular advances have shed significant light on the classification of vascular tumours. Except for haemangiomas, vascular lesions remain difficult to diagnose, owing to their rarity and overlapping clinical, radiographic and histological features across malignancies. In particular, challenges still remain in the differential diagnosis of epithelioid vascular tumours, including epithelioid haemangioma and epithelioid haemangioendothelioma at the benign/low-grade end of the spectrum, and epithelioid angiosarcoma at the high-grade end. Historically, the classification of vascular tumours has been heavily dependent on the clinical setting and histological features, as traditional immunohistochemical markers across the group have often been non-discriminatory. The increased application of next-generation sequencing in clinical practice, in particular targeted RNA sequencing (such as Archer, Illumina), has led to numerous novel discoveries, mainly recurrent gene fusions (e.g. those involving FOS, FOSB, YAP1, and WWTR1), which have resulted in refined tumour classification and improved diagnostic reproducibility for vascular tumours. However, other molecular alterations besides fusions have been discovered in vascular tumours, including somatic mutations (e.g. involving GNA family and IDH genes) in a variety of haemangiomas, as well as copy number alterations in high-grade angiosarcomas (e.g. MYC amplifications). Moreover, the translation of these novel molecular abnormalities into diagnostic ancillary markers, either fluorescence in-situ hybridisation probes or surrogate immunohistochemical markers (FOSB, CAMTA1, YAP1, and MYC), has been remarkable. This review will focus on the latest molecular discoveries covering both benign and malignant vascular tumours, and will provide practical diagnostic algorithms, highlighting frequently encountered pitfalls and challenges in the diagnosis of vascular lesions.
Topics: Hemangioendothelioma; Hemangioma; Hemangiosarcoma; Humans; Isocitrate Dehydrogenase; Mutation; Vascular Neoplasms
PubMed: 34958509
DOI: 10.1111/his.14458 -
Revista Espanola de Enfermedades... Dec 2022The epithelioid angiosarcoma is a type of sarcoma is very rare (<1 % of all sarcomas). The most frequent location is in extremities, therefore is the axial region less...
The epithelioid angiosarcoma is a type of sarcoma is very rare (<1 % of all sarcomas). The most frequent location is in extremities, therefore is the axial region less common.Differential diagnosis with other histologic variants of intra-abdominal hepatic and splenic angiosarcomas is essential. Surgery is the treatment of choice, and there is no current evidence on the management of cases with locoregional or distant involvement.
Topics: Humans; Hemangiosarcoma; Sarcoma; Hemangioendothelioma, Epithelioid; Diagnosis, Differential; Liver
PubMed: 35607922
DOI: 10.17235/reed.2022.8878/2022 -
Veterinary Radiology & Ultrasound : the... Mar 2022Hemangiosarcoma is the most common metastatic tumor involving the brain in dogs but detailed published descriptions of the magnetic resonance imaging (MRI) features are...
Hemangiosarcoma is the most common metastatic tumor involving the brain in dogs but detailed published descriptions of the magnetic resonance imaging (MRI) features are lacking. The objective of this multi-center, retrospective case series study was to describe MRI characteristics of canine hemangiosarcoma affecting the central nervous system (CNS). Medical records of seven referral institutions were retrospectively reviewed. Dogs were included if they had a histopathologically confirmed diagnosis of hemangiosarcoma affecting the CNS and undergone an MRI of the brain and/or vertebral column. Lesions were independently evaluated by two observers. Twenty dogs met the inclusion criteria and one dog had both intracranial and intramedullary hemangiosarcoma. Consistent MRI features included heterogeneous (17/21) lesions in all sequences with mainly mixed signal intensity (12/21), presence of susceptibility artifact on T2*w (15/16), associated moderate to severe perilesional edema (21/21), and moderate to strong (20/21) heterogeneous (14/21) or ring-like (6/21) contrast enhancement. Intracranial hemangiosarcoma was frequently multiple and intra-axial, affecting consistently the telencephalon and no differences in MRI features were found between primary and metastatic hemangiosarcoma. This is the first MRI description of primary intracranial hemangiosarcoma and primary intracranial epithelioid hemangiosarcoma. Vertebral hemangiosarcomas were segmental poorly marginated polyostotic and highly aggressive lesions invading the thoracic vertebral canal and paraspinal tissues. Epidural hemangiosarcomas were single and well-marginated lesions in the thoracolumbar and/or lumbar region. Intramedullary hemangiosarcomas were cervical, metastatic in origin, and frequently (3/4) accompanied by intracranial lesions. These described MRI features will aid early identification of hemangiosarcoma guiding subsequent diagnostics and therapeutics.
Topics: Animals; Brain; Dog Diseases; Dogs; Hemangiosarcoma; Magnetic Resonance Imaging; Retrospective Studies
PubMed: 34873768
DOI: 10.1111/vru.13041 -
BMJ Case Reports May 2017Angiosarcomas account for only 1-2% of all soft tissue sarcomas, with the most common site of origin being in the head and neck region. Peritoneal angiosarcoma is an... (Review)
Review
Angiosarcomas account for only 1-2% of all soft tissue sarcomas, with the most common site of origin being in the head and neck region. Peritoneal angiosarcoma is an extremely rare tumour and few cases have been reported previously. Presentation of peritoneal angiosarcoma can be very variable, hence making diagnosis difficult. Herein, we review the current literature and describe a rare case of a patient who presented with haemorrhagic ascites, 17 years after radiotherapy for endometrial carcinoma and was subsequently diagnosed with peritoneal angiosarcoma. Due to extensive disease, surgery was not a viable option. She was started on palliative chemotherapy, but despite treatment, her condition deteriorated further and she eventually passed away. We highlight the diagnostic challenges and considerations in these patients as well as current treatment and management options available.
Topics: Female; Hemangiosarcoma; Humans; Middle Aged; Neoplasms, Radiation-Induced; Peritoneal Neoplasms
PubMed: 28536208
DOI: 10.1136/bcr-2016-217887 -
Ugeskrift For Laeger Sep 2023Angiosarcomas are rare, highly malignant tumours of vascular origin. They present as fast growing, haematoma-like and diffuse lesions. In this case report, a 71-year-old...
Angiosarcomas are rare, highly malignant tumours of vascular origin. They present as fast growing, haematoma-like and diffuse lesions. In this case report, a 71-year-old woman presented with what was assessed as an abscess arising from a traumatic haematoma of the forehead. The lesion was primarily treated conservatively. The condition progressed despite of treatment to a point where the tumour covered a third of her face. After four months, skin biopsies were taken and the diagnosis angiosarcoma was made. This case report should lead to an increased focus on angiosarcomas and the importance of sufficient biopsies.
Topics: Humans; Female; Aged; Hemangiosarcoma; Skin Neoplasms; Abscess; Biopsy; Hematoma
PubMed: 37767866
DOI: No ID Found -
BMJ Case Reports Nov 2021Primary pulmonary angiosarcoma is a rare type of malignant vascular tumour with poor prognosis. Diagnosis is often late due to non-specific symptoms and low clinical...
Primary pulmonary angiosarcoma is a rare type of malignant vascular tumour with poor prognosis. Diagnosis is often late due to non-specific symptoms and low clinical suspicion for angiosarcoma. A 72-year-old man presented to hospital with a 6-month history of mild progressive dyspnoea, with associated cough, episodes of presyncope and weight loss. CT pulmonary angiogram (CTPA) was reported as a large saddle pulmonary embolism extending into both the right and left pulmonary arteries. Further Multidisciplinary team meeting (MDM) discussion, and review of CTPA and subsequent investigations revealed a large primary pulmonary artery sarcoma which was later confirmed histology. The patient was referred to the cardiothoracic surgeons and underwent left radical pneumonectomy.
Topics: Aged; Hemangiosarcoma; Humans; Lung; Male; Pneumonectomy; Pulmonary Artery; Pulmonary Embolism; Vascular Neoplasms
PubMed: 34753722
DOI: 10.1136/bcr-2021-244578 -
Dermatology Online Journal Jan 2013Radiation-induced angiosarcomas are uncommon adverse sequelae related to treatment of tumors. Early diagnosis and treatment are key to successful management.
BACKGROUND
Radiation-induced angiosarcomas are uncommon adverse sequelae related to treatment of tumors. Early diagnosis and treatment are key to successful management.
PURPOSE
The purpose of this case study is to describe the clinical characteristics of radiation-induced angiosarcomas.
MATERIALS AND METHODS
We retrospectively reviewed the medical literature using PubMed, searching the terms angiosarcoma, breast, post, radiation, and treatment. Patient reports and previous reviews of the subject were critically assessed and the salient features are presented.
RESULTS
Approximately one hundred patients have been diagnosed with radiation-induced angiosarcomas. The condition presents within the radiation field, approximately six years after initial treatment. We describe the dramatic efficacious response of our patient's angiosarcoma to adjuvant chemotherapy both preoperatively (gemcitabine and docetaxel) and postoperatively (gemcitabine and docetaxel followed by ifosfamide and adriamycin).
CONCLUSION
We recommend that new skin lesions within or adjacent to radiation ports should be considered for biopsy. Also, for lesions that are larger, ill-defined, or both, several sites should be sampled to ensure an accurate diagnosis and to prevent the possibility of a false negative interpretation.
Topics: Adult; Biopsy; Breast Neoplasms; Female; Hemangiosarcoma; Humans; Middle Aged; Neoplasms, Radiation-Induced; Neoplasms, Second Primary; Skin Neoplasms
PubMed: 23374944
DOI: No ID Found -
Modern Pathology : An Official Journal... Jan 2014Although benign hemangiomas are among the most common diagnoses amid connective tissue tumors, sarcomas showing endothelial differentiation (ie, angiosarcoma and... (Review)
Review
Although benign hemangiomas are among the most common diagnoses amid connective tissue tumors, sarcomas showing endothelial differentiation (ie, angiosarcoma and epithelioid hemangioendothelioma) represent under 1% of all sarcoma diagnoses, and thus it is likely that fewer than 500 people in the United States are affected each year. Differential diagnosis of malignant vascular tumors can be often quite challenging, either at the low end of the spectrum, distinguishing an epithelioid hemangioendothelioma from an epithelioid hemangioma, or at the high-grade end of the spectrum, between an angiosarcoma and a malignant epithelioid hemangioendothelioma. Within this differential diagnosis both clinico-radiological features (ie, size and multifocality) and immunohistochemical markers (ie, expression of endothelial markers) are often similar and cannot distinguish between benign and malignant vascular lesions. Molecular ancillary tests have long been needed for a more objective diagnosis and classification of malignant vascular tumors, particularly within the epithelioid phenotype. As significant advances have been recently made in understanding the genetic signatures of vascular tumors, this review will take the opportunity to provide a detailed update on these findings. Specifically, this article will focus on the following aspects: (1) pathological and molecular features of epithelioid hemangioendothelioma, including the more common WWTR1-CAMTA1 fusion, as well as the recently described YAP1-TFE3 fusion, identified in a morphological variant of epithelioid hemangioendothelioma; (2) discuss the heterogeneity of angiosarcoma clinical, morphological and genetic spectrum, with particular emphasis of MYC and FLT4 gene amplification in radiation-induced angiosarcoma; and (3) provide a practical guide in the differential diagnosis of epithelioid vascular tumors using molecular testing.
Topics: Biomarkers, Tumor; Diagnosis, Differential; Genetic Predisposition to Disease; Hemangioendothelioma, Epithelioid; Hemangiosarcoma; Humans; Phenotype; Predictive Value of Tests; Prognosis
PubMed: 24384851
DOI: 10.1038/modpathol.2013.176 -
Communications Biology Apr 2023Angiosarcomas are rare malignant tumors of the endothelium, arising commonly from the head and neck region (AS-HN) and recently associated with ultraviolet (UV) exposure...
Angiosarcomas are rare malignant tumors of the endothelium, arising commonly from the head and neck region (AS-HN) and recently associated with ultraviolet (UV) exposure and human herpesvirus-7 infection. We examined 81 cases of angiosarcomas, including 47 cases of AS-HN, integrating information from whole genome sequencing, gene expression profiling and spatial transcriptomics (10X Visium). In the AS-HN cohort, we observed recurrent somatic mutations in CSMD3 (18%), LRP1B (18%), MUC16 (18%), POT1 (16%) and TP53 (16%). UV-positive AS-HN harbored significantly higher tumor mutation burden than UV-negative cases (p = 0.0294). NanoString profiling identified three clusters with distinct tumor inflammation signature scores (p < 0.001). Spatial transcriptomics revealed topological profiles of the tumor microenvironment, identifying dominant but tumor-excluded inflammatory signals in immune-hot cases and immune foci even in otherwise immune-cold cases. In conclusion, spatial transcriptomics reveal the tumor immune landscape of angiosarcoma, and in combination with multi-omic information, may improve implementation of treatment strategies.
Topics: Humans; Hemangiosarcoma; Transcriptome; Gene Expression Profiling; Tumor Microenvironment
PubMed: 37106027
DOI: 10.1038/s42003-023-04856-5 -
BMJ Case Reports Jul 2018An older male patient with a history of tachycardia treated with atenolol presented to an outside hospital on 22 February 2017 with acute right flank pain. He had a CT...
An older male patient with a history of tachycardia treated with atenolol presented to an outside hospital on 22 February 2017 with acute right flank pain. He had a CT scan which revealed a large right renal mass with acute haemorrhage. He was initially managed with interventional radiology guided embolism on 25 February 2017 due to the ongoing bleeding and haemodynamic instability. He was then transferred to our institution. He underwent right radical nephrectomy on 13 March 2017. His pathology revealed a 12.5×6×4.5 cm mass consistent with angiosarcoma of the right kidney with negative margins. Final pathology was pT2b with extension of the mass into the renal vein and perirenal adipose tissue. He was discharged soon after surgery. He was recommended to undergo adjuvant chemotherapy.
Topics: Aged; Chemotherapy, Adjuvant; Fatal Outcome; Flank Pain; Hemangiosarcoma; Humans; Image-Guided Biopsy; Kidney Neoplasms; Male; Nephrectomy; Renal Veins
PubMed: 30061122
DOI: 10.1136/bcr-2017-222672