Introduction
The transgender and gender diverse population continues to rise as
society shifts towards increased awareness and acceptance, with an
estimated 2.6 million adults identifying as transgender in the United
States [1]. Population growth and improved financial accessibility
to healthcare has led to an increase in chest masculinization surgery,
or gender-affirming mastectomy (GAM) [2]. GAM differs from
risk-reduction, or prophylactic, mastectomy in that more breast tissue
is left in-situ to create a natural-appearing chest contour. This is
compared to prophylactic mastectomy which removes nearly all breast
tissue for maximum oncologic risk reduction. This difference complicates
breast cancer risk assessment in the post-GAM population [2]. Breast
cancer risk in cisgender women is well-defined at 1 in 8 or 12.5% risk
over a lifetime, however this is less clear in transgender patients due
to confounding factors such as testosterone therapy or previous
oophorectomy [3]. It has been theorized that after GAM transmale
patients are at lower risk of breast cancer than cisgender women, yet
higher risk than cisgender men [2-4]. No standardized preoperative
screening guidelines prior to GAM currently exist, however strong family
history and need for breast imaging should be assessed in this setting.
Risk factors such as inherited genetic mutations have specific
implications for this population as they are less likely to undergo
cancer screening or participate in long-term follow up [4].
Approximately 5-10% of breast cancers are thought to be associated with
inherited genetic mutations, BRCA being most common [5]. Risk
reducing mastectomy is often offered to these patients, decreasing
breast cancer risk by 90-95%[4,5]. Here we present a transgender
male patient with the BRCA1 mutation. Rather than standard GAM, he
underwent prophylactic bilateral mastectomy followed by chest
masculinization with liposuction and free nipple grafts, as well as
concurrent oophorectomy for gynecologic risk reduction. Here we
highlight the nuanced problem that post-GAM patients have a higher, more
variable risk of breast cancer compared to cisgender men and likely
postmastectomy cisgender women. We demonstrate that appropriate risk
reduction and desired cosmetic outcome can be achieved concurrently. The
following case in presented accordance with the CARE reporting
checklist.
Case Presentation The patient is a 32-year-old transgender male
who presented for surgical consultation regarding prophylactic
mastectomy in the setting of a BRCA1 mutation. At the time of
consultation, he had been on testosterone therapy for 7 years. Genetic
testing was ordered by his endocrinologist due to a strong family
history of breast, ovarian, and prostate cancers. He was referred to our
high-risk screening program, breast surgical oncology, and gynecology to
discuss risk reduction surgery. He had no previous breast imaging and
was recommended to undergo breast MRI. This showed a 5.4 cm area of
nonmass enhancement in the right breast for which biopsy was
recommended, however at the time of biopsy the abnormality was no longer
visualized and no tissue sample was obtained. After multidisciplinary
discussion, he underwent laparoscopic hysterectomy and bilateral
salpingo-oophorectomy followed by bilateral risk-reduction mastectomies.
The plastic surgery team worked in conjunction with the oncological
breast surgery team for markings. The double incision mastectomy
approach was designed to place the scar slightly below the pectoralis
major muscle. The nipples were thinned out as an oval full thickness
skin graft placed on the closed chest. The nipple grafts were positioned
along the lateral border of the pectoralis major muscle between the
4th and 5th ribs [6]. Suction
assisted lipectomy was performed laterally and medially to optimize
contour. Final pathology was without abnormality. Postoperatively he was
satisfied with the aesthetic outcome (Figure 1) and plans to undergo
annual chest wall exams by his primary care physician.
Discussion Here we describe a transgender male patient found to
have the BRCA1 mutation on preoperative evaluation for GAM. He was found
to have a strong family history including breast, ovarian, and prostate
cancers which prompted genetic testing. He was evaluated in a
multidisciplinary setting, and ultimately underwent risk-reduction
mastectomy and oophorectomy at the time of chest masculinization
surgery. There has yet to be established guidelines for breast cancer
screening in transgender men undergoing GAM. In general, transgender
patients face many barriers in healthcare including stigmatization,
psychosocial trauma associated with undergoing procedures that do not
align with their gender identity, and lack of insurance coverage of
procedures [7]. Disparity in healthcare for this population is
especially prevalent in preventative care. When compared to cisgender
individuals, transgender patients are less likely to be offered
recommended cancer screening, which is reflected by suboptimal cancer
outcomes in this population [1,7]. A recent single arm pilot trial
published by C.S Cortina et. al highlights implications of patient
education regarding individualized breast cancer risk in the
preoperative setting can impact one’s decision to undergo risk reduction
mastectomy as a part of gender-affirming top surgery [1]. Though
rare, development of breast cancer after GAM has been described in
multiple case series [7]. It is important to emphasize that GAM
should not be considered equivalent to oncologic or prophylactic
mastectomy due to the amount of breast tissue left behind, as the
residual breast tissue imparts a theoretical future risk of breast
cancer. In terms of long-term breast cancer screening, similar to
postmastectomy cisgender females, physical exam is the recommended
screening modality for post-GAM patients.
Conclusion As the transgender population continues to grow, the
role of breast cancer risk assessment prior to GAM is of particular
importance. This case demonstrates the clinical utility for formalized,
individualized preoperative screening to better identify patients who
would benefit from oncologic risk-reduction at the time of
gender-affirming chest masculinization. As exemplified here, formal
guidelines for breast cancer risk assessment in patients pursuing GAM
could mitigate lifetime risk of breast cancer development in the
transgender and gender diverse population. A limitation of this case
report includes discussion about a relatively small patient population,
however with profound population growth the question of breast cancer
risk in this group has become relevant in genetics, surgical oncology,
and plastics. More work is needed to develop and implement formal
guidelines to assess long term outcomes.
Bailey N. Johnson: Conceptualization; writing – original
draft.
Ivan Hadad: Writing – review and editing.
Aladdin H. Hassanein: Conceptualization; writing – review and
editing.
Carla S. Fisher: Conceptualization; writing – review and
editing.