Angiosarcoma of the scalp diagnosed by the presence of neck inflammation: a case report

Karube, Rei; Sasaki, Hiroyoshi; Shinozuka, Keiji; Fujisawa, Yasuhiro; Yanagawa, Toru; Yamagata, Kenji; Onizawa, Kojiro; Otsuka, Fujio; Bukawa, Hiroki

doi:10.1038/ijos.2012.36

Cited by 7 publications

(3 citation statements)

References 14 publications

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“…Using mutational signature analysis to understand the possible origins of tumor hypermutation, we 7 found that all 9 of these HNFS samples with high TMB had a dominant mutational signature representing damage from ultraviolet (UV) light (COSMIC Signature 7) 25 Figure 6D). The fact that high TMB and a concomitant dominant mutational signature of UV light exposure occurs uniquely in HNFS AS suggest a common etiologic and genomic basis for HNFS AS, which is an AS subtype accounting for nearly 60% of AS cases 26,27 .…”

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confidence: 99%

The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research

Jain

Tomson

Dunphy

et al. 2019

Preprint

114

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Despite collectively accounting for 25% of tumors in U.S. adults, rare cancers have significant unmet clinical needs as they are difficult to study due to low incidence and geographically dispersed patient populations. We sought to assess whether a patientpartnered research approach using online engagement can overcome these challenges and accelerate scientific discovery in rare cancers, focusing on angiosarcoma (AS), an exceedingly rare sarcoma with a dismal prognosis and an annual U.S. incidence of 300 cases. Here, we describe the development of the Angiosarcoma Project (ASCproject), an initiative enabling patients across the U.S. and Canada to remotely share their clinical information and biospecimens for research. The project generates and publicly releases clinically annotated genomic data on tumor and germline specimens on an ongoing basis. Over 18 months, 338 AS patients registered for the ASCproject, comprising a significant fraction of all patients. Whole exome sequencing of 47 AS tumors revealed several recurrently mutated genes, including KDR, TP53, and PIK3CA. Activating mutations in PIK3CA were observed nearly exclusively in primary breast AS, suggesting a therapeutic rationale in these patients. AS of the head, neck, face, and scalp (HNFS) was associated with high tumor mutation burden and a dominant mutational signature of UV light exposure, suggesting that UV damage may be a causative factor in HNFS AS and that this AS subset might be amenable to immune checkpoint inhibitor therapy. Medical record review revealed two patients with HNFS AS received off-label treatment with anti-PD-1 therapy and experienced exceptional responses, highlighting immune checkpoint inhibition as a therapeutic avenue for HNFS AS. This patient-partnered approach has catalyzed an opportunity to discover the etiology and potential therapies for AS patients. Collectively, this proof of concept study demonstrates that empowering patients to directly participate in research can overcome barriers in rare diseases and enable biological and clinical discoveries.

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confidence: 99%

The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research

Jain

Tomson

Dunphy

et al. 2019

Preprint

114

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“…In this case, the patient underwent lung biopsies, twice, and both did not indicate a malignant tumor. We assumed that the error in pathological results were owing to fewer samples obtained by puncture biopsy and various degrees of inflammation around the lesions probably, which might have affected the correct diagnosis ( 28 , 29 ). Therefore, tissue samples could be obtained by multi-site or video-assisted thoracoscopic biopsies, which could effectively improve the positivity rate of biopsy.…”

Section: Discussionmentioning

confidence: 99%

A Rare Cause of Pulmonary Nodules Diagnosed as Angiosarcoma Was Misdiagnosed as Vasculitis and Wegener’s Granuloma in an Elderly Man: A Case Report

Wang

Yang

2021

Front. Oncol.

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BackgroundAngiosarcoma is a rare, highly malignant tumor prone to recurrence and metastasis. Angiosarcoma is insidious in the initial stage, and its clinical manifestation lacks specificity. The diagnosis is based on histopathology and immunohistochemistry findings.Case presentationA 73-year-old man was hospitalized following complaints of persistent cough 6 months and hemoptysis for 2 months. Anti-infective treatment was ineffective. A CT-guided percutaneous core needle biopsy of pulmonary lesions revealed organized pneumonia, and the removed skin of purpuric rash area on the left calf revealed vasculitis. Chest CT was used during the patient follow-up. Hormonal therapy combined with immunoglobulins did not lead to improvement, and there was rapid progression of the lung lesions. Subsequently, the patient underwent a surgery, the diseased tissue was separated and removed completely beside the left submandibular gland under local anaesthesia. The immunohistochemical staining indicated CD31 (+) and CD34 (+) confirming a diagnosis of metastatic angiosarcoma. The expression of PD-L1 was 70%, therefore, anlotinib and pembrolizumab treatments were initiated. The patient eventually died.ConclusionAngiosarcoma is a malignant tumor in the clinic that lacks typical and specific signs and symptoms. The diagnosis depends on immunohistochemistry, which requires repeated biopsies of multiple sites in highly suspected cases.

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“… 17 Several reports have indicated that docetaxel and paclitaxel have demonstrated improved disease-free survival and may be effective in preventing or treating lung metastases. 2 5 18 19 20 21 However, dose-limiting side effects can pose an issue. Our results also suggest a role for this combined-modality approach as our sole survivor of positive surgical margins was treated using neoadjuvant chemotherapy (weekly paclitaxel) and radiotherapy.…”

Section: Discussionmentioning

confidence: 99%

Angiosarcoma of the Head and Neck

Mullins

Hackman

2015

Int Arch Otorhinolaryngol

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Introduction Angiosarcoma of the head and neck is a rare vascular sarcoma associated with high rates of local recurrence and distant metastasis and a poor prognosis. Objective We describe our experience treating patients with angiosarcoma of the head and neck to evaluate the outcomes, patterns of failure, and current treatments. Methods We identified six patients with angiosarcoma of the head and neck and treated at our institution between 2000 and 2013. We compared our results to the literature from 1979 to 2013. Results Mean follow-up was 42 months. Local recurrence rate was 50% with disease-specific survival and 2-year disease-free survival rates of 33.3 and 20%, respectively. Prognostic factors included tumor size > 5 cm and surgical margin status, with no correlation between histologic grade and survival. Combined-modality therapy was only used for aggressive tumors with positive surgical margins but is suggested to improve local control and overall survival. Conclusions Our data series supports that angiosarcoma of the head and neck has a high rate of recurrence and is associated with a poor prognosis, despite current combined-modality therapy. The study highlights the importance of attaining negative margins during surgical resection, the utility of adjuvant therapies, as well as the need for continued research in developing new management strategies.

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Angiosarcoma of the scalp diagnosed by the presence of neck inflammation: a case report

Cited by 7 publications

References 14 publications

The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research

The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research

A Rare Cause of Pulmonary Nodules Diagnosed as Angiosarcoma Was Misdiagnosed as Vasculitis and Wegener’s Granuloma in an Elderly Man: A Case Report

Angiosarcoma of the Head and Neck

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