Angiosarcoma of the scalp associated with Xeroderma pigmentosum

Sharma, Shilpi; Deshmukh, Anuja; Bal, Munita; Chaukar, Devendra A; D'Cruz, Anil

doi:10.4103/0971-5851.99753

Cited by 12 publications

(11 citation statements)

References 12 publications

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“…Many families have been reported from South India especially Karnataka, where significant consanguinity is observed. (6). In present study, consanguinity was not present.…”

Section: Discussioncontrasting

confidence: 44%

Association of Squamous Cell Carcinoma of lower lip with Xeroderma Pigmentosa – A Devastating disease

Tadke¹,

Lahane²,

Golhar³

2017

IOSR JDMS

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ABSTRACT:-Xeroderma Pigmentosa is a rare inherited autosomal recessive disease characterised by inability to repair DNA damage caused by UV light. Those affected are extremely sensitive to the UV portion of the light. Affected individuals rapidly develop skin atrophy, splotchy pigmentation, telangectasias and skin cancers. These patients have increased propensity for UV radiation induced mutagenesis. Neoplasms occur commonly in the skin exposed areas. Basal cell carcinomas being the most commonly encountered variety. Squamous cell carcinoma has been infrequently reported.Here we report a case of a 17 year old girl of Xeroderma Pigmentosa with squamous cell carcinoma of lower lip.

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“…Many families have been reported from South India especially Karnataka, where significant consanguinity is observed. (6). In present study, consanguinity was not present.…”

Section: Discussioncontrasting

confidence: 44%

Association of Squamous Cell Carcinoma of lower lip with Xeroderma Pigmentosa – A Devastating disease

Tadke¹,

Lahane²,

Golhar³

2017

IOSR JDMS

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“…Angiosarcoma is a rare related malignant skin neoplasm with a high rate of local recurrence. Angiosarcomas represent only 2% of all sarcomas and arise from vascular endothelial cells [1]. Several cases of angiosarcoma associated with XP have been reported.…”

Section: Introductionmentioning

confidence: 99%

Angiosarcoma of the Auricle in a Patient with Xeroderma Pigmentosum Variant

et al. 2020

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Xeroderma pigmentosum (XP) is an inherited autosomal recessive disorder characterized by photosensitivity and an increased risk of developing multiple skin neoplasms at sites exposed to the sun. We report a 73-year-old Japanese man with angiosarcoma of the auricle and an XP-variant, which is a very rare condition. In this case, long-term physical stimulation due to auricular deformation after surgery may have been the cause. Angiosarcoma associated with XP has a better prognosis than common angiosarcoma, perhaps because of the smaller tumor size. As XP patients are at high risk of skin neoplasms, they consult dermatologists regularly, and therefore skin tumors are likely to be detected early.

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“…These mutations were not present in our case. Angiosarcoma is rarely seen in the context of XP; there are 11 reports of angiosarcoma in XP patients, with most of these ( n = 10) occurring on the head and neck (Leake et al 1992; De Silva et al 1999; Ludolph-Hauser et al 2000; Marcon et al 2004; Arora et al 2008; Olson et al 2012; Sharma et al 2012; Karkouche et al 2013). Of these, seven patients were treated with surgical excision, three with surgery plus radiotherapy, and one with chemotherapy.…”

Section: Discussionmentioning

confidence: 99%

Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease

Momen

Fassihi

Davies

et al. 2019

Cold Spring Harb Mol Case Stud

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“Mutational signatures” are patterns of mutations that report DNA damage and subsequent repair processes that have occurred. Whole-genome sequencing (WGS) can provide additional information to standard diagnostic techniques and can identify therapeutic targets. A 32-yr-old male with xeroderma pigmentosum developed metastatic angiosarcoma that was unresponsive to three lines of conventional sarcoma therapies. WGS was performed on his primary cancer revealing a hypermutated tumor, including clonal ultraviolet radiation-induced mutational patterns (Signature 7) and subclonal signatures of mutated DNA polymerase epsilon (POLE) (Signature 10). These signatures are associated with response to immune checkpoint blockade. Immunohistochemistry confirmed high PD-L1 expression in metastatic deposits. The anti-PD-1 monoclonal antibody pembrolizumab was commenced off-label given the POLE mutation and high mutational load. After four cycles, there was a significant reduction in his disease with almost complete resolution of the metastatic deposits. This case highlights the importance of WGS in the analysis, interpretation, and treatment of cancers. We anticipate that as WGS becomes integral to the cancer diagnostic pathway, treatments will be stratified to the individual based on their unique genomic and/or transcriptomic profile, enhancing classical approaches of histologically driven treatment decisions.

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Angiosarcoma of the scalp associated with Xeroderma pigmentosum

Cited by 12 publications

References 12 publications

Association of Squamous Cell Carcinoma of lower lip with Xeroderma Pigmentosa – A Devastating disease

Association of Squamous Cell Carcinoma of lower lip with Xeroderma Pigmentosa – A Devastating disease

Angiosarcoma of the Auricle in a Patient with Xeroderma Pigmentosum Variant

Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease

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