Angiosarcoma With Malignant Peripheral Nerve Sheath TumourDeveloping in a Patient With Klippel–Trénaunay–Weber Syndrome

Ploegmakers, Marieke J.M.; Pruszczyński, M; Rooy, Jacky de; Küsters, Benno; Veth, R.P.H.

doi:10.1080/13577140500353743

Cited by 20 publications

(15 citation statements)

References 8 publications

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“…Other known risk factors include UV irradiation, given the typical locations of cutaneous angiosarcomas on the head and neck (10)(11)(12) , as well as occupational exposure to vinyl chloride (13) , arsenicals, and use of anabolic steroids (14) . Genetically, angiosarcoma is associated with familial syndromes including Li-Fraumeni syndrome ( TP53 mutations) (15) and Klippel-Trenaunay syndrome ( PIK3CA mutations) (16) . However, these syndromes do not solely cause angiosarcoma (7) , and are not present in the majority of cases.…”

Section: Introductionmentioning

confidence: 99%

Genomic analysis reveals shared genes and pathways in human and canine angiosarcoma

Megquier

Turner-Maier

Swofford

et al. 2019

Preprint

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Angiosarcoma is a highly aggressive cancer of blood vessel-forming cells with high fatality and few effective treatment options. It is both rare and heterogenous, making large, well powered genomic studies nearly impossible. In dogs, angiosarcoma is common, with breeds like the golden retriever carrying heritable genetic factors that put them at very high risk. If the clinical similarity of canine and human angiosarcoma reflects shared genomic etiology, dogs could be a critically needed model for advancing angiosarcoma research. We assessed the genomic landscape of canine angiosarcoma via whole exome sequencing (47 golden retriever angiosarcomas) and RNA sequencing (74 angiosarcomas from multiple breeds). The predominant mutational signature was the age-associated deamination of cytosine to thymine, and somatic coding mutations occurred most frequently in the tumor suppressor TP53 (59.6% of cases) as well as two genes in the PI3K pathway: the oncogene PIK3CA (29.8%) and its regulatory subunit PIK3R1 (8.5%). We compared the canine data to human data recently released by The Angiosarcoma Project, and found the same genes and many of the same pathways significantly enriched for somatic mutations, most notably protein kinases, glycoproteins, fibronectin Type III domains, EGF-like domains, and cell adhesion proteins such as cadherins. As in human angiosarcoma, CDKN2A/B was recurrently deleted and VEGFA, KDR, and KIT recurrently gained. Canine angiosarcoma closely models human angiosarcoma on a genomic level, and is a powerful tool for investigating the pathogenesis of this devastating disease. Canine only PI3K pathway PIK3CG

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Section: Introductionmentioning

confidence: 99%

Genomic analysis reveals shared genes and pathways in human and canine angiosarcoma

Megquier

Turner-Maier

Swofford

et al. 2019

Preprint

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“…Our patient developed a rapidly enlarging osseous mass with nonaggressive periosteal new bone formation, thus not implying malignancy. However, the true nature of the lesion remained unknown before final excision, as there are reports on tumors detected in patients with KTS, including malignant peripheral nerve sheath tumors, angiosarcomas, astrocytomas, hemangiopericytomas, hemangiomas, and meningiomas [23][24][25][26][27][28]. Moreover, isolated hemihypertrophy, a major clinical manifestation of KTS, is a potential risk factor for developing neoplasms, although the risk of embryonal cancer is reportedly not higher in children with KTS [29][30][31].…”

Section: Discussionmentioning

confidence: 99%

Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report

Fang

Zhang

et al. 2020

BMC Pediatr

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Background: Klippel-Trénaunay syndrome (KTS) is a complex congenital vascular disorder, typically accompanied by port-wine stains, varicose veins, and limb hypertrophy. This paper reports a rare and unusual clinical condition of periosteal reaction in a pediatric case of KTS. Although periosteal new bone formation is not rare in children, as is KTS, their dual occurrence or the presentation of the former due to KTS has not been previously documented. Our objective in this study is to highlight the potential association between periosteal new bone formation and KTS, as well as to help physicians consider this association when bone neoplasm has been ruled out. Case presentation: A 7-year old girl, initially presented with a persistent mild swelling in her left shank, with no abnormalities in the X-ray of the tibiofibular. However, after a few consults and examinations, 7 weeks later, a 17 cm-long periosteal new bone formation along the left tibia and diffused dilated vessels in the left shank were revealed by the radiological examination. Not knowing the true nature of the fast-growing lesion in a typical case of KTS was worrying. Therefore, a core needle biopsy was performed. The test demonstrated a possible parosteal hemangioma. Following further investigation through an excisional biopsy, and a pathological analysis, hyperplasia of the bone tissues with no tumor cells was revealed. Thereafter, an elastic stocking treatment was prescribed. During the first two-year follow-up, recurrence of the mass or sign of progression of KTS was not observed. Conclusions: Periosteal new bone formation is a potential manifestation of KTS. Based on the conclusive pathological results of the excisional biopsy, invasive examinations and surgeries could be avoided in future KTSsubperiosteal lesion manifestations.

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“…The classic presentation of primary pulmonary angiosarcoma is a single lesion spreading locally as a multicentric mass, which presents a diagnostic challenge by imaging alone . Rare reports have described cases of synchronous primary pulmonary angiosarcomas and angiosarcomas of extrapulmonary sites in patients with Maffucci and Klippel‐Trenaunay‐Weber syndromes . In addition, the differential diagnosis of primary lung angiosarcoma includes Kaposi sarcoma and epithelioid hemangioendothelioma.…”

Section: Discussionmentioning

confidence: 99%

“…Mentzel Trenaunay-Weber syndromes. 16,17 In addition, the differential diagnosis of primary lung angiosarcoma includes Kaposi sarcoma and epithelioid hemangioendothelioma. These can be differentiated through immunohistochemistry for HHV-8 and morphology.…”

Section: Discussionmentioning

confidence: 99%

Primary diagnosis of angiosarcoma by fine needle aspiration: Lessons learned from 3 cases

Lepe

Hui

Pisharodi

et al. 2017

Diagnostic Cytopathology

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Angiosarcomas are rare malignancies arising from cells of endothelial origin and are aggressive sarcomas that can occur in any anatomic site. They are reported to have predilection for the scalp, extremities and breasts. The incidence of these tumors is increasing, which has been suggested to be attributable to the growing use of radiotherapy to treat breast and other malignancies. There is currently limited literature describing the primary cytologic diagnosis of angiosarcoma on fine needle aspirate material. We describe the findings of three cases of angiosarcoma diagnosed by fine needle aspiration. Our three cases offer distinct radiologic, clinical and cytopathologic points-of-view: a thyroid angiosarcoma, a mediastinal angiosarcoma and a skin angiosarcoma. The cytomorphology of angiosarcoma is characterized by large highly atypical spindle to epithelioid cells with abundant cytoplasm in dispersed single cells or loose aggregates. The nuclei are large and pleomorphic with vesicular chromatin and prominent nucleoli. Mitoses are readily identified. The background can be bloody and/or necrotic. Occasional intracytoplasmic lumens are a helpful morphologic feature suggesting vascular differentiation. HHV-8 immunostaining may aid in the differential diagnosis with Kaposi sarcoma while epithelioid hemangioendothelioma can be distinguished based on morphologic features. Given the metastatic potential and high mortality rate associated with these tumors, this entity is an important consideration in the contexts herein described.

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Angiosarcoma With Malignant Peripheral Nerve Sheath TumourDeveloping in a Patient With Klippel–Trénaunay–Weber Syndrome

Cited by 20 publications

References 8 publications

Genomic analysis reveals shared genes and pathways in human and canine angiosarcoma

Genomic analysis reveals shared genes and pathways in human and canine angiosarcoma

Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report

Primary diagnosis of angiosarcoma by fine needle aspiration: Lessons learned from 3 cases

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