Insights into an uncommon case: axillary extramammary Paget’s disease and TP53 mutation

Abstract

Extramammary Paget’s disease (EMPD) is a rare malignancy primarily affecting areas rich in apocrine
glands, such as the genitalia, perianal region, and axilla. Here is presented a case report of a 43-year-old
woman with an unusual manifestation of EMPD in the axillary region, complicated by a history of multiple
primary malignancies and a TP53 mutation. The patient’s oncological history includes two separate occurrences
of breast cancer along with papillary thyroid carcinoma. Genetic testing confirmed a TP53 mutation,
prompting prophylactic bilateral oophorectomy with salpingectomy. In 2021, the patient presented with an
erythematous skin lesion in the right axilla, initially resembling a benign spot but later exhibiting concerning
features indicative of EMPD. Histopathological examination of the excised lesion confirmed the diagnosis.
Immunohistochemistry was positive for CAM5.2 and HER2 and negative for S-100, HMB45, CKHMW,
SOX10 and P63 The patient remains free of recurrence at 32 months of follow-up. This case highlights the
diagnostic challenges associated with axillary EMPD, emphasizing the importance of careful evaluation
and consideration of rare malignancies, particularly in patients with a complex oncological background.
The co-occurrence of EMPD with multiple malignancies raises questions about potential underlying genetic
predispositions and shared etiological factors, warranting further investigation into the pathogenesis of
EMPD and its association with other cancers. Understanding these mechanisms may facilitate improved
management strategies for patients with similar clinical profiles.