PRIMARY GENETICALLY ALTERED ANGIOSARCOMAS OF THE BREAST IN FEMALE TWINS. CASE REPORT
Abstract
Soft tissue sarcomas are rare malignant tumors. Primary angiosarcomas of the breast account about 0, 04% of all malignant breast tumor cases. We present the case report of simultaneous development of primary angiosarcoma of the breast in the in 22 years old twins. The histological examination of the core biopsy specimen revealed the evidence of angiosarcoma. Each of the patients were treated with combined therapy. In one of the sisters, the tumor mass occupied almost the entire breast, wherefore the first phase Chemotherapy (CT) was administered 5 cycles of gemcitabine and docetaxel. Subsequently the mastectomy with simultaneous breast reconstruction was performed on the right side. Postoperatively another 3 cycles of CT were carried out according to the above described regimen. In the second patient, due to the small tumor size (less than 5cm), the skin-repairing mastectomy with simultaneous breast reconstruction was performed. 6 courses of adjuvant CT was given according to the specified regimen. The genomic analysis of both patients, revealed the germline mutation A518A (C.1782A/T) in the exone-10 and the polymorphism V269V (c.4035T/C) in the exone-11 of the BRCA2-genes. In addition, the polymorphism Int3dupl6 was found in the third introne of the TP53-gene. The same mutation (A518A (C.1782A/T) was also detected in the twin's father. There was no PD after the 12 months of follow-up.
About the Authors
Ю. Будик
Российский онкологический научный центр имени Н.Н. Блохина РАМН
Russian Federation
Russian Federation
ЯМ. Любченко
Российский онкологический научный центр имени Н.Н. Блохина РАМН
Russian Federation
Russian Federation
О. Анурова
Российский онкологический научный центр имени Н.Н. Блохина РАМН
Russian Federation
Russian Federation
А. Феденко
Российский онкологический научный центр имени Н.Н. Блохина РАМН
Russian Federation
Russian Federation
В. Соболевский
Российский онкологический научный центр имени Н.Н. Блохина РАМН
Russian Federation
Russian Federation
А. Семьянихина
Российский онкологический научный центр имени Н.Н. Блохина РАМН
Russian Federation
Russian Federation
Н. Поспехова
Российский онкологический научный центр имени Н.Н. Блохина РАМН
Russian Federation
Russian Federation
И. Истомин
Российский онкологический научный центр имени Н.Н. Блохина РАМН
Russian Federation
Russian Federation
B. .. A
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
L. N. Lyubchenko
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
O. A. Anurova
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
A. A. Fedenko
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
V. A. Sobolevsky
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
A. V. Semyanihina
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
N. I. Pospekhova
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
I. A. Istomin
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
References
1. Давыдов М.И., Аксель Е.М. Вестник РОНЦ. Том 20, №3 (77), прил. 1. Июль - сентябрь 2009 г. 58 с.
2. Katrina N. Glazebrook, Maureen J., Magut Carol Reynolds. Angiosarcoma of the Breast AJR: 190, February 2008.
3. Yang W.T., Hennessy B.T., Dryden M. J., Valero V., Hunt К.К., Krishnamurthy S. Mammary angiosarcomas: imaging findings in 24 patients. Radiology. 2007, v. 242, p. 725-734.
4. West J.G., Jeffrey N. Weitzel, May Lin Tao, Michele Carpenter et al. BRCA-mutations and the risk of angiosarcoma after breast cancer treatment. Clinical Breast Cancer. 2008, v. 8, No. 6, p. 533-537.
5. Evans D.G., Wu C.L., Birch J.M. BRCA2: a cause of Li-Fraumenilike Syndrome. J. Med. Genet. January. 2008, v 45, No. 1.
6. Manoukiaa S., Peissel В., Pensottib V. et al. Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families. European journal of cancer. 4.3. 2007, p. 601-606.
7. www.iarc.fr <http://www.iarc.fr>
8. www.nhgri.nih.gov <http://www.nhgri.nih.gov>
Review
For citations:
, , , , , , , , A B..., Lyubchenko L.N., Anurova O.A., Fedenko A.A., Sobolevsky V.A., Semyanihina A.V., Pospekhova N.I., Istomin I.A. PRIMARY GENETICALLY ALTERED ANGIOSARCOMAS OF THE BREAST IN FEMALE TWINS. CASE REPORT. Bone and soft tissue sarcomas, tumors of the skin. 2011;(3):66-74. (In Russ.)
Views:
60
Email this article 
