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HER2-positive invasive ductal carcinoma was identified in a patient with Neurofibromatosis type 1Case Report Shows Trastuzumab Treatment for Breast Cancer in NF1

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Key Takeaway
Note the importance of early screening and multidisciplinary management for patients with Neurofibromatosis type 1.

This case report describes the clinical presentation and management of a 48-year-old woman with a clinical diagnosis of Neurofibromatosis type 1 (NF1) who was diagnosed with HER2-positive invasive ductal carcinoma. Histopathological examination confirmed HER2-positive invasive ductal carcinoma with associated ductal carcinoma in situ, staged as pT1cN0M0, Stage IA. Sentinel lymph node biopsy was negative for metastasis.

The patient underwent a total mastectomy, sentinel lymph node biopsy, adjuvant chemotherapy, and trastuzumab. At the 21-month follow-up, no recurrence or distant metastasis was observed.

The authors note that the findings are based on a single case report and are not generalizable to the broader population of patients with NF1 and breast cancer. The report emphasizes the necessity of early screening, individualized treatment, and multidisciplinary management for patients with NF1 who present with breast cancer. Regular surveillance is recommended for this patient population.

How this fits prior evidence

This case report addresses a gap in the literature regarding the intersection of Neurofibromatosis type 1 and breast cancer. While other covered evidence discusses management of frailty in older women with cancer, the use of virtual reality for perioperative anxiety, and specific treatments like sacituzumab govitecan for metastatic breast cancer, this report provides specific clinical observations for a patient with NF1 and HER2-positive invasive ductal carcinoma.

This report describes the case of a 48-year-old woman diagnosed with Neurofibromatosis type 1 (NF1) who was also diagnosed with HER2-positive invasive ductal carcinoma. The patient underwent a total mastectomy and a sentinel lymph node biopsy. The results showed that the cancer was localized to the breast and had not spread to the lymph nodes.

The patient received adjuvant chemotherapy and trastuzumab, a targeted treatment. At the 21-month follow-up mark, the patient showed no signs of cancer recurrence or distant metastasis. This case highlights the importance of early screening and specialized care for patients who have both NF1 and breast cancer.

Because this information comes from a single case report, it is not enough to establish a general rule for all patients. The results cannot be applied to everyone with these conditions. However, it underscores the need for a team of specialists to provide individualized care and regular monitoring for patients with these overlapping conditions.

What this means for you:
This single case shows a successful treatment path for a patient with both NF1 and HER2-positive breast cancer.

Common questions

What was the treatment for the patient with NF1 and breast cancer?

The patient underwent a total mastectomy and a sentinel lymph node biopsy. She also received adjuvant chemotherapy and trastuzumab. These treatments were used to manage her HER2-positive invasive ductal carcinoma. The report notes that no recurrence or metastasis was found during the 21-month follow-up period.

Is this treatment effective for everyone with Neurofibromatosis type 1?

Because this is a single case report involving only one patient, the results cannot be used to predict outcomes for everyone. The study is not large enough to prove that this specific treatment works for all people with NF1. You should talk to your doctor about your specific medical needs.

What did the lymph node biopsy show?

The sentinel lymph node biopsy was negative for metastasis. This means the cancer had not spread to the lymph nodes at the time of the procedure. The histopathological examination confirmed the cancer was Stage IA, specifically pT1cN0M0.

Study Details

Study typeSystematic review
EvidenceLevel 1
PublishedSep 2026
View Original Abstract ↓
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder associated with an increased risk of malignancies, particularly breast cancer at a younger age. We report the case of a 48-year-old woman with clinically diagnosed NF1 who presented with a left breast mass detected during routine screening. Physical examination revealed numerous café-au-lait macules and cutaneous neurofibromas distributed over the trunk and extremities. Imaging findings were classified as BI-RADS 4B–4C. Following intraoperative confirmation of malignancy, total mastectomy and sentinel lymph node biopsy were performed. Histopathological examination demonstrated HER2-positive invasive ductal carcinoma with associated ductal carcinoma in situ (pT1cN0M0, Stage IA), while all sentinel lymph nodes were negative for metastasis. The patient subsequently received adjuvant chemotherapy combined with trastuzumab. No recurrence or distant metastasis was observed during 21 months of follow-up. This case highlights the importance of early screening, individualized treatment, multidisciplinary management, and regular surveillance to optimize outcomes in patients with NF1-associated breast cancer.
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