Endoscopic Mastectomy in Patients with Genetic Mutations

Abstract

Objective:

To describe clinical, surgical, and cosmetic outcomes in patients with germline mutations undergoing endoscopic nipple- and skin-sparing mastectomy (eNSM) with immediate reconstruction.

Methods:

We conducted a retrospective review of 6 patients (11 breasts) treated between March 2022 and May 2024. All patients had confirmed BRCA1, BRCA2, CHEK2, or MUTYH mutations. Data on operative time, bleeding, specimen weight, reconstruction satisfaction (BRECON 31), complications, and recurrence were collected.

Results:

All surgeries were completed without conversion to open surgery. Mean age was 41 ± 9.2 years; mean surgical time was 115.6 ± 11.0 minutes; mean blood loss was 110 ± 70.9 mL. No complications were reported. BRECON 31 satisfaction score at 6 months was 15.3/16. Median follow-up was 13 months with no recurrences.

Conclusions:

eNSM is a feasible and effective option for patients with high-risk genetic mutations, offering oncologic safety and high satisfaction in our initial Latin American experience.

INTRODUCTION

Endoscopic mastectomy has recently emerged as a minimally invasive option for the management of breast cancer, offering the benefits of reduced surgical trauma and better cosmetic outcomes without compromising oncologic prognosis.^1,2 This approach is especially relevant for patients carrying genetic mutations such as BRCA1, BRCA2, CHEK2, and other less frequent mutations, which significantly increase the lifetime risk of developing breast cancer. These cases often justify risk-reducing or more aggressive therapeutic interventions, but not necessarily with greater aesthetic impact, which remains a key factor in decision-making when considering breast reconstruction.^3–5

In this context, the application of minimally invasive techniques (robotic and endoscopic) enables precise dissection with adequate oncologic control through a small hidden incision, while achieving better aesthetic outcomes and reducing psychological, sexual, and quality-of-life impacts. Furthermore, the integration of genetic evaluation into the diagnostic and therapeutic process has revolutionized the surgical approach, allowing for the selection of patients who may benefit from less invasive procedures with improved cosmetic results. Several studies have reported promising outcomes with endoscopic mastectomy, suggesting that, in experienced hands, this technique can match the oncologic efficacy of conventional surgery while improving patient satisfaction when combined with immediate reconstruction.^6–9

Here, we present our initial experience with endoscopic mastectomy in genetically predisposed patients, detailing clinical management and surgical outcomes.

MATERIALS AND METHODS

We conducted a retrospective review of 6 patients (11 breast procedures) between March 2022 and May 2024. Inclusion criteria were: confirmed germline mutation, breast cancer or risk-reducing indication, eligibility for nipple- and skin-sparing surgery, and informed consent.

Exclusion Criteria

Candidates for breast-conserving surgery, refusal of immediate reconstruction, prior chest wall irradiation, heavy smoking, or significant previous breast incisions for any reason.

Surgical Technique

A 2.5- to 4.5-cm axillary incision was made to insert a single-port system. Subcutaneous flaps were raised, and tumescent solution with lidocaine and epinephrine was infiltrated. CO₂ insufflation was maintained at 7 mmHg. Dissection was performed using monopolar cautery and 5-mm scissors with a Maryland forceps for traction. The dissection began in the superficial flap through the outer quadrants, progressing toward the nipple. Samples from the posterior portion of the nipple were obtained and sent for intraoperative cytopathological analysis. Anterior dissection continued completely to create sufficient space to proceed with posterior dissection over the pectoralis major. The gland was extracted through the incision. The procedure included:

• Dissection through subcutaneous and prepectoral planes, preserving the integrity of the skin and muscle.

• In cancer cases: Excision of the mammary tissue with disease-free margins, confirmed by histopathological examination.

• Sentinel lymph node biopsy and/or axillary dissection using a dual technique.

• Detailed documentation of operative time, estimated blood loss, and intraoperative assessments of surgical extent.

Reconstruction

Immediate reconstruction was performed using prepectoral or dual-plane pockets, skin flaps were evaluated clinically (thickness, tissue quality, and preservation of the subdermal plexus) and with perfusion-assessing devices (thermography and/or ICG). After achieving adequate hemostasis a 15 Fr drain was placed, and implants/expanders were inserted using a 'no touch' funnel-assisted technique. Closure was completed in two layers using Monocryl 3-0.

RESULTS

See Table 1 for clinical and surgical characteristics of the included patients.

Table 1.

Summary of Clinical and Surgical Characteristics of Patients Undergoing Endoscopic Nipple-Sparing Mastectomy and Immediate Reconstruction

#	Age	Genetic Mutation	Satisfaction (out of 16)	Follow-up (months)	Preoperative Therapy	Side	Surgical Time (min)	Tumor Size	Molecular Subtype	Type of Reconstruction	Specimen Weight (g)	Blood Loss (ml)	Complications
1	38	BRCA1	11/16	25	No	Right	115	NA	NA	Tissue expander	170	100	No
						Left	120	NA	NA	Tissue expander	210	100	No
2	41	CHEK2	13/16	35	No	Right	100	24 × 10 mm	Luminal A	Tissue expander	246	200	No
3	40	BRCA2	16/16	12	Neoadjuvant chemotherapy	Right	125	23 × 19 + 9 × 10 mm	Luminal B	Tissue expander	400	<50	No
						Left	125	NA	NA	Direct implant	420	<50	No
4	26	BRCA1	16/16	14	No	Right	98	NA	NA	Tissue expander	148	50	No
						Left	120	NA	NA	Tissue expander	150	30	No
5	52	MUTYH	16/16	7	Neoadjuvant chemotherapy	Right	119	NA	NA	Tissue expander	220	180	No
						Left	100	23 mm	Triple negative	Tissue expander	230	250	No
6	49	MUTYH	16/16	11	Neoadjuvant chemotherapy	Right	121	11 × 8 mm	HER2	Tissue expander	159.8	100	No
						Left	128	NA	NA	Tissue expander	165	100	No

Variables include age, genetic mutation, satisfaction score, follow-up time, type of preoperative therapy, laterality, operative time, tumor size, molecular subtype, reconstruction method, specimen weight, estimated blood loss, and complications. Demographics and surgical characteristics of patients undergoing endoscopic mastectomy. NA, not available; HER2, human epidermal growth factor receptor 2.

Clinical and Demographic Data

The group of patients analyzed displayed marked heterogeneity in both demographic and clinical characteristics. Ages ranged from young adulthood to middle age, with a mean age of approximately 41 years. Genetic evaluation revealed the presence of classical mutations such as BRCA1 and BRCA2, along with other alterations (e.g., CHEK2 and MUTYH mutations) commonly associated with a strong family history of breast cancer. Tumor presentation showed considerable variability in lesion size, with specific dimensions documented in several cases (e.g., 2.4 × 1 cm, 23 × 19 mm and 9 × 10 mm). These demographic and clinical characteristics provide a comprehensive view of the patients’ risk profiles and the diversity in tumor presentation among those undergoing this innovative surgical approach.

All bilateral cases in this series were conducted in a single operative session. Each breast was treated independently using the same standardized endoscopic technique, followed by immediate reconstruction on each side with either an implant or tissue expander, based on intraoperative assessment of flap viability. All surgeries were completed successfully without conversion. Mean age was 41 ± 9.2 years. Specimen weight averaged 230 ± 95.7 g, operative time was 115.6 ± 11.0 minutes, and blood loss was 110 ± 70.9 mL. No seromas or nipple necrosis occurred. Hospital stay was a maximum of 2 nights.

Cosmetic satisfaction was evaluated at 6 months using the BRECON 31 scale, yielding a mean satisfaction score of 15.3/16. Follow-up included clinical evaluation and labs every 3 months. Overall survival was 100%, with no local or distant recurrence observed during a median disease-free interval of 13 months (range 7–35; mean 17.7 months) (Figures 1 and 2).

Figure 1.

Patient with neurofibromatosis and BRCA1 mutation (A) Day of the surgery. (B) Four weeks after surgery (note how the arm naturally hides the incision).

Figure 2.

Patient BRCA1 mutation (A) before and (B) four weeks after reconstruction.

DISCUSSION

This is, to our knowledge, the first report of routine single-port endoscopic mastectomy in genetically predisposed patients in America. Our results demonstrate acceptable operative time and blood loss, even when considering diverse anatomies and patient profiles.

Including patients with non-BRCA mutations like CHEK2 and MUTYH broadens the applicability of this approach, suggesting that this procedure may benefit a more heterogeneous group of high-risk patients, many of whom present a strong familial predisposition to breast cancer. This highlights the importance of integrating genetic data into surgical planning, allowing treatment to be personalized not only for oncologic safety but also for optimizing aesthetic outcomes and postoperative quality of life.

Published studies show endoscopic surgery may match conventional surgery in control and survival, while improving recovery.¹⁰

Moreover, the high aesthetic satisfaction reported through the BRECON test and the absence of complications underscore the positive impact of this technique on the overall patient experience. In recent years, more women carrying high-risk mutations such as BRCA1, BRCA2, PALB2, CHEK2, and others have chosen prophylactic mastectomy not only to reduce cancer risk but also for psychological reassurance. Meta-analyses show bilateral risk-reducing mastectomy lowers lifetime breast-cancer incidence by up to 95% in mutation carriers while improving anxiety and satisfaction scores.¹¹ Nevertheless, the decision is deeply personal and multifactorial, balancing oncologic benefit with body-image concerns, recovery time and reconstructive expectations. Patient-specific anatomical factors—breast volume, ptosis, prior surgery or syndromic conditions—must guide surgical planning. In this setting, endoscopic nipple- and skin-sparing mastectomy (eNSM) provides a personalized, minimally invasive route that combines oncologic safety with superior aesthetic and psychological outcomes, especially valuable for young women and those with strong family history.⁴

Although the technique requires specific skills and careful patient selection, breast size is not an absolute contraindication. However, larger volumes may demand greater surgical experience and occasionally a slightly longer incision to allow safe specimen extraction. With precise handling of endoscopic equipment and appropriate training, our experience demonstrates that excellent outcomes in terms of oncologic safety and aesthetics are achievable and are expected to improve further along the learning curve.^2,4,12

We acknowledge that the small sample size and short follow-up period limit the generalizability of our findings. Thus, prospective studies involving a larger cohort and longer follow-up are necessary to confirm the durability of outcomes in terms of recurrence, aesthetic results, and medium- to long-term quality of life.¹³

CONCLUSION

Minimally invasive breast surgery is becoming standard in various regions. To our knowledge, based on the current literature, we are the only center in Latin America performing this procedure routinely. Our experience supports the safety and effectiveness of single-port endoscopic mastectomy in patients with high-risk mutations.

In experienced hands, this technique achieves oncologic and risk-reduction outcomes comparable to conventional surgery, while offering significant advantages in terms of aesthetics and quality of life. Looking ahead, it is imperative to foster international collaborations and establish dedicated training centers to facilitate the widespread adoption of this technique.