Diagnostic utility of MYC amplification and anti-MYC immunohistochemistry in atypical vascular lesions, primary or radiation-induced mammary angiosarcomas, and primary angiosarcomas of other sites

Ginter, Paula S.; Mosquera, Juan Miguel; MacDonald, Theresa Y.; D’Alfonso, Timothy M.; Rubin, Mark A.; Shin, Sandra J.

doi:10.1016/j.humpath.2013.11.002

Cited by 92 publications

(92 citation statements)

References 14 publications

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“…During angiosarcoma formation, which appears to have been prompted by a mucinous cystadenoma, alterations in the molecular signatures similar to those observed in secondary angiosarcomas might have occurred. One such similarity might have been the observed MYC amplification in the present case 32 .…”

Section: Discussionsupporting

confidence: 62%

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Gemcitabine-Based Regimen for Primary Ovarian Angiosarcoma with MYC Amplification

et al. 2014

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Our patient presented with advanced ovarian angiosarcoma and bone metastases and still achieved 7 years of progression-free survival after treatment with a gemcitabine-based regimen. Recently, MYC amplification was proposed to occur in a proportion of primary 31 and radiation-induced angiosarcomas 32 . Enhanced expression of c-Myc is an important mediator leading to disease development 33 . We therefore report our case and the results of retrospective MYC gene amplification and c-Myc protein expression analyses, discuss the relevance of those factors in terms of therapy and prognosis, and review the related literature. CASE DESCRIPTIONA 29-year-old woman was admitted to the emergency room with abdominal pain and fever. Abdominal palpation revealed rebound tenderness. Transvaginal ultrasonography revealed a cystic mass of approximately 9 cm in the right pelvis, within which several solid masses existed. The masses were recognized as blood clots or other artefacts unrelated to the tumour component. A small amount of ascites in the Douglas pouch was also observed.Laboratory data revealed a white blood cell count of 9320×10 3 /μL, with 85.6% neutrophils, and 2.30 mg/dL serum C-reactive protein. On the following day, serum C-reactive protein increased to 11.22 mg/dL, indicating a level of inflammation.Clinically, a rupture or torsion of the right ovarian tumour with acute peritonitis was suspected. Intravenous administration of ceftriaxone sodium hydrate 2 g daily was initiated and continued for 3 days.Magnetic resonance imaging revealed a cystic right ovarian tumour whose cystic portion contained a fluid or blood component [ Figure 1(A,B)]. Computed tomography revealed low-density areas in several bones, suggestive of osteolytic bone metastases [ Figure 2(A)]. We also examined the tumour markers cancer antigen 125, carbohydrate antigen 19-9, and carcinoembryonic antigen, whose ABSTRACT Angiosarcoma is a rare and aggressive type of sarcoma, and primary angiosarcoma of the ovary is extremely rare. We report the case of a 29-year-old woman who was diagnosed with ovarian angiosarcoma and possible bone metastases. We treated this patient with a gemcitabine-based regimen as postoperative adjuvant chemotherapy, after which she achieved at least 7 years of progression-free survival, an extremely long duration given the aggressive features of this tumour. We retrospectively performed immunohistochemical analyses and fluorescence in situ hybridization to make a pathology diagnosis and to investigate the tumour features. MYC amplification and c-Myc protein overexpression were positively detected. It might be possible to correlate the effectiveness of the gemcitabinebased chemotherapeutic regimen with MYC gene amplification and c-Myc protein overexpression.

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Section: Discussionsupporting

confidence: 62%

“…Recently, MYC amplification was proposed to occur in a proportion of primary 31 and radiation-induced angiosarcomas 32 . Enhanced expression of c-Myc is an important mediator leading to disease development 33 .…”

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confidence: 99%

Gemcitabine-Based Regimen for Primary Ovarian Angiosarcoma with MYC Amplification

et al. 2014

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“…For example, c-MYC amplification is reported at high frequency (up to 100%) in radiotherapy-induced secondary angiosarcoma but is very rare in primary angiosarcoma. [4][5][6] Although it has been reported in radiogenic angiosarcoma at numerous anatomic sites, high level c-MYC amplification similar to that reported in our study is particularly prevalent in radiogenic angiosarcoma of the breast. 5,7 These observations, combined with our findings, suggest that there may be common organ-specific risk factors that predispose to radiation-induced c-MYC amplification in different tissue types of the breast (Fig.…”

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confidence: 85%

“…Likewise, the prevalence of c-MYC amplification in radiogenic angiosarcoma suggests that c-MYC amplification is a common early initiating event in this malignancy. The notion that c-MYC amplification has a crucial, initiating role is supported by the observation that non-malignant radiation-induced atypical vascular lesions in the breast lack c-MYC amplification and very rarely progress to angiosarcoma 4,6 (Fig. 1).…”

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confidence: 94%

Does radiation-induced c-MYC amplification initiate breast oncogenesis?

Wade

May

Onel

et al. 2015

Molecular & Cellular Oncology

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“…Atypical vascular lesions (AVL) of the breast, however, are a benign radiation-associated vascular proliferation that shows morphological similarities with low-grade secondary angiosarcomas [4][5][6][7][8][9]. The differential diagnosis between AVL and low-grade angiosarcoma (AS) can be occasionally very difficult or even impossible, mostly in small-sized skin biopsies, due to the histologic overlap characteristics between low-grade AS and AVL [5,10]. Some studies reported patients with AVL who later developed AS, suggesting that AVL may be a precursor to or an incipient angiosarcoma [6,7,11].…”

Section: Introductionmentioning

confidence: 99%

Angiosarcoma and atypical vascular lesions of the breast: diagnostic and prognostic role of MYC gene amplification and protein expression

Fraga-Guedes

André

Mastropasqua

et al. 2015

Breast Cancer Res Treat

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MYC amplification has been reported as a prominent feature of secondary angiosarcomas (SAS). The differential diagnosis between atypical vascular lesion (AVL) and low-grade angiosarcoma (AS) can be occasionally very difficult or even impossible, and MYC amplification status has been pointed as an important diagnostic tool to distinguish cutaneous vascular lesions of the breast. We assessed MYC amplification and protein expression status by fluorescent in situ hybridization (FISH) and immunohistochemistry (IHC), respectively, in 49 patients diagnosed with breast AS, and 30 patients diagnosed with post-radiation AVL of the breast. Clinical and pathological features, and follow-up data were collected, and survival analyses were performed. Among 37 patients with SAS, twenty patients had tumors with high-level MYC amplification and protein overexpression (54 %). None of primary angiosarcomas (PAS) or AVL cases showed MYC amplification or protein expression. Concordance between MYC amplification (FISH) and protein expression (IHC) was 100 % in AVL, PAS, and SAS. Survival analysis of the SAS patients demonstrates that those with MYC amplification had a significantly worse overall survival compared to cases without MYC amplification (P = 0.035). There was a non-significant trend toward a poor disease-free survival between cases with and without MYC amplification (P = 0.155). Our findings show that MYC amplification is a highly specific but poorly sensitive marker for SAS and, therefore, a negative result does not exclude the diagnosis of angiosarcoma. MYC amplification was associated with adverse prognosis, suggesting a prognostic role of MYC amplification status on SAS of the breast.

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Diagnostic utility of MYC amplification and anti-MYC immunohistochemistry in atypical vascular lesions, primary or radiation-induced mammary angiosarcomas, and primary angiosarcomas of other sites

Cited by 92 publications

References 14 publications

Gemcitabine-Based Regimen for Primary Ovarian Angiosarcoma with MYC Amplification

Gemcitabine-Based Regimen for Primary Ovarian Angiosarcoma with MYC Amplification

Does radiation-induced c-MYC amplification initiate breast oncogenesis?

Angiosarcoma and atypical vascular lesions of the breast: diagnostic and prognostic role of MYC gene amplification and protein expression

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