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Bilateral prophylactic mastectomy: not just a woman's problem!
The Breast (1998) 7, 236237 0 1998 Harcourt Brace & Co. Ltd
CASE REPORT
Bilateral prophylactic mastectomy: not just a woman’s problem! I. R. Daltrey, R. A. Eeles* and M. W. Kissin Department of Surgery, The Royal Surrey County Hospital, Guildford, Surrey, *CRC Section of Molecular Carcinogenesis (Cancer Genetics Team), Institute
of Cancer
Research & Royal Marsden NHS Trust, Sutton, Surrey, UK.
S U MMA R Y. Carcinoma of the male breast is a rare condition. It is even more unusual for a man to present to a breast surgeon regarding an inherited predisposition to developing breast cancer. Nevertheless, this case report illustrates that men with a family history of male or female breast carcinoma may have the same fears of developing a breast cancer as their female counterparts. We believe this to be the first reported case within the UK of a bilateral prophylactic mastectomy for a man.
CASE REPORT A healthy 44-year-old man (III- 1) was referred to our breast unit with concerns regarding his strong family history for breast cancer (Fig. 1). Clinical breast examination was entirely normal. In 1995 his brother (III-4), aged 50, developed male breast carcinoma (MBC) and underwent radical mastectomy and chemotherapy. Although clear of recurrent disease, he has recently developed a G2 Tl prostatic adenocarcinoma. A sister (111-2) aged 51, also developed breast carcinoma during 1995 and was treated by wide local excision and radiotherapy. Previously their younger sister (III3) had died, aged 36, from ovarian carcinoma. Four years beforehand she underwent mastectomy and chemotherapy for breast carcinoma. Four other cancers (bronchial II- 1 and 11-2, neurological II-4, and laryngeal III-6) have also been found in this kindred. The pattern of disease in this family implicates the recently identified BRCA2 gene which carries a lifetime risk of 5% for MBC. Our patient’s lifetime risk for MBC was estimated at 2-3%, considerably higher than that of men in general, but markedly lower than the risk of female breast cancer in the general population. Nevertheless, after careful consideration of his increased risk for an inherited predisposition towards MBC and counselling regarding the pros and cons of prophylactic surgery, he elected for bilateral subcutaneous prophylactic mastectomy. The subsequent histology confirmed normal fibro-fatty tissue and excluded malignancy. Following surgery he felt relieved of the burden imposed by his family’s history of malignancy Address correspondence to: M. W. Kissin, Department of Surgery, The Royal Surrey County Hospital, Guildford, Surrey, UK
236
and 1 year later does not regret choosing surgery rather than surveillance. So far, while screening his brother (III-4), no mutations have been identified in BRCA2 by SSCP/ heteroduplex analysis, which has a sensitivity of 85%. DISCUSSION Male breast cancer occurs in only 0.5-l/100 000 men per year and accounts for approximately 1% of all breast cancers and less than 1% of all male cancers. A family history of MBC is also rare. Schofield et al found a history of MBC in only 9 families out of 930 reporting a family history of female breast cancer.’ Epidemiological studies have demonstrated that a family history of breast cancer is a major risk factor for the development of MBC.lX2 The relative risks have been estimated at 6.1 and 2.2 for men with an affected male or female relative, respectively. Other risk factors for the development of MBC include Klinefelter syndrome, hypogonadism, and high levels of endogenous or exogenous oestrogens.’ None of these were identified during our patient’s risk assessment. BRCAl and BRCA2 are gene loci that have been linked to an inherited predisposition to breast cancer. BRCA2 is associated with an inherited predisposition for MBC, but the role of BRCAl is less clear3 The ability to screen patients and relatives for mutations in these genes and identify individuals with an increased risk of developing breast cancer has caused many dilemmas. In particular, women have shown renewed interest in prophylactic mastectomy as a means of reducing, although not eradicating, their risks of developing breast cancer.4 The efficacy of prophylactic surgery remains unclear due to a lack of controlled trials,
Bilateral prophilactic mastectomy
237
II
I
III
1
3 Breast 49
Fig. 1 Family pedigree. Our patient is identified by an arrow. other cancers. The numbers indicate the age at diagnosis.
Breast 50
Ovary 36
Prostate 5 1
Shading:
upper half, breast
Acknowledgements jointly Trust.
by the Royal
cancer;
6 Larynx 40
Breast 32
variable selection of patients at high risk of breast carcinoma and inadequate follow-up. In view of the rarity of MBC, men at high risk due to family history get little consideration in the literature. Our case illustrates that an increased predisposition to breast carcinoma can cause the same anxieties and fears for men as it does for women. Indeed, our patient elected to have a bilateral mastectomy despite being at less risk of developing breast cancer, even with his family history, than women in the general population. Male bilateral prophylactic mastectomy has been reported in the literature only once before.’ Having reviewed the English literature, we believe this to be the first reported case from the UK.
Mr I. Daltrey is a research fellow kindly funded College of Surgeons of England and the Juniper
5
4
lower
half, ovarian
cancer:
right
hand lower
comer,
References 1. Schofield A, Muir E, de Silva D, Haites G, Haites N. Male breast cancer: the importance of recognising family history and the preliminary results of linkage analysis to BRCAl and BRCA2. The Breast 1996; 5: 147-151. 2. Cassagrande J T, Hanisch R, Pike M C, Ross R K, Brown J B, Henderson B E. A case-control study of male breast cancer. Cancer Res 1988; 48: 1326-1330. 3. Stratton M R, Ford D, Neuhasen S et al. Familial male breast cancer is not linked to the BRCAl locus on chromosome 17q. Nature Genet 1994; 7(l): 103-107. 4. Stefanek M E. Bilateral prophylactic mastectomy: issues and concerns. Monogr Natl Cancer Inst 1995; 17: 3742. 5. Everson R B, Li F P, Fraumeni J F et al. Familial male breast cancer. Lancet 1976; i: 9-12.
CASE REPORT
Bilateral prophylactic mastectomy: not just a woman’s problem! I. R. Daltrey, R. A. Eeles* and M. W. Kissin Department of Surgery, The Royal Surrey County Hospital, Guildford, Surrey, *CRC Section of Molecular Carcinogenesis (Cancer Genetics Team), Institute
of Cancer
Research & Royal Marsden NHS Trust, Sutton, Surrey, UK.
S U MMA R Y. Carcinoma of the male breast is a rare condition. It is even more unusual for a man to present to a breast surgeon regarding an inherited predisposition to developing breast cancer. Nevertheless, this case report illustrates that men with a family history of male or female breast carcinoma may have the same fears of developing a breast cancer as their female counterparts. We believe this to be the first reported case within the UK of a bilateral prophylactic mastectomy for a man.
CASE REPORT A healthy 44-year-old man (III- 1) was referred to our breast unit with concerns regarding his strong family history for breast cancer (Fig. 1). Clinical breast examination was entirely normal. In 1995 his brother (III-4), aged 50, developed male breast carcinoma (MBC) and underwent radical mastectomy and chemotherapy. Although clear of recurrent disease, he has recently developed a G2 Tl prostatic adenocarcinoma. A sister (111-2) aged 51, also developed breast carcinoma during 1995 and was treated by wide local excision and radiotherapy. Previously their younger sister (III3) had died, aged 36, from ovarian carcinoma. Four years beforehand she underwent mastectomy and chemotherapy for breast carcinoma. Four other cancers (bronchial II- 1 and 11-2, neurological II-4, and laryngeal III-6) have also been found in this kindred. The pattern of disease in this family implicates the recently identified BRCA2 gene which carries a lifetime risk of 5% for MBC. Our patient’s lifetime risk for MBC was estimated at 2-3%, considerably higher than that of men in general, but markedly lower than the risk of female breast cancer in the general population. Nevertheless, after careful consideration of his increased risk for an inherited predisposition towards MBC and counselling regarding the pros and cons of prophylactic surgery, he elected for bilateral subcutaneous prophylactic mastectomy. The subsequent histology confirmed normal fibro-fatty tissue and excluded malignancy. Following surgery he felt relieved of the burden imposed by his family’s history of malignancy Address correspondence to: M. W. Kissin, Department of Surgery, The Royal Surrey County Hospital, Guildford, Surrey, UK
236
and 1 year later does not regret choosing surgery rather than surveillance. So far, while screening his brother (III-4), no mutations have been identified in BRCA2 by SSCP/ heteroduplex analysis, which has a sensitivity of 85%. DISCUSSION Male breast cancer occurs in only 0.5-l/100 000 men per year and accounts for approximately 1% of all breast cancers and less than 1% of all male cancers. A family history of MBC is also rare. Schofield et al found a history of MBC in only 9 families out of 930 reporting a family history of female breast cancer.’ Epidemiological studies have demonstrated that a family history of breast cancer is a major risk factor for the development of MBC.lX2 The relative risks have been estimated at 6.1 and 2.2 for men with an affected male or female relative, respectively. Other risk factors for the development of MBC include Klinefelter syndrome, hypogonadism, and high levels of endogenous or exogenous oestrogens.’ None of these were identified during our patient’s risk assessment. BRCAl and BRCA2 are gene loci that have been linked to an inherited predisposition to breast cancer. BRCA2 is associated with an inherited predisposition for MBC, but the role of BRCAl is less clear3 The ability to screen patients and relatives for mutations in these genes and identify individuals with an increased risk of developing breast cancer has caused many dilemmas. In particular, women have shown renewed interest in prophylactic mastectomy as a means of reducing, although not eradicating, their risks of developing breast cancer.4 The efficacy of prophylactic surgery remains unclear due to a lack of controlled trials,
Bilateral prophilactic mastectomy
237
II
I
III
1
3 Breast 49
Fig. 1 Family pedigree. Our patient is identified by an arrow. other cancers. The numbers indicate the age at diagnosis.
Breast 50
Ovary 36
Prostate 5 1
Shading:
upper half, breast
Acknowledgements jointly Trust.
by the Royal
cancer;
6 Larynx 40
Breast 32
variable selection of patients at high risk of breast carcinoma and inadequate follow-up. In view of the rarity of MBC, men at high risk due to family history get little consideration in the literature. Our case illustrates that an increased predisposition to breast carcinoma can cause the same anxieties and fears for men as it does for women. Indeed, our patient elected to have a bilateral mastectomy despite being at less risk of developing breast cancer, even with his family history, than women in the general population. Male bilateral prophylactic mastectomy has been reported in the literature only once before.’ Having reviewed the English literature, we believe this to be the first reported case from the UK.
Mr I. Daltrey is a research fellow kindly funded College of Surgeons of England and the Juniper
5
4
lower
half, ovarian
cancer:
right
hand lower
comer,
References 1. Schofield A, Muir E, de Silva D, Haites G, Haites N. Male breast cancer: the importance of recognising family history and the preliminary results of linkage analysis to BRCAl and BRCA2. The Breast 1996; 5: 147-151. 2. Cassagrande J T, Hanisch R, Pike M C, Ross R K, Brown J B, Henderson B E. A case-control study of male breast cancer. Cancer Res 1988; 48: 1326-1330. 3. Stratton M R, Ford D, Neuhasen S et al. Familial male breast cancer is not linked to the BRCAl locus on chromosome 17q. Nature Genet 1994; 7(l): 103-107. 4. Stefanek M E. Bilateral prophylactic mastectomy: issues and concerns. Monogr Natl Cancer Inst 1995; 17: 3742. 5. Everson R B, Li F P, Fraumeni J F et al. Familial male breast cancer. Lancet 1976; i: 9-12.