Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy

Hoefgen, Holly; Merritt, Diane F.

doi:10.1016/j.jpag.2014.08.005

Cited by 6 publications

(4 citation statements)

References 15 publications

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“…Patients with the CAIS syndrome present with the unique combination of female E2 levels and female size and structure breasts without P4. In individuals with the CAIS syndrome, only a single case of a juvenile fibroadenoma of the breast [ 30 ], and no BC has been reported [ 31 ].…”

Section: Genetic Interferencementioning

confidence: 99%

Progesterone from ovulatory menstrual cycles is an important cause of breast cancer

et al. 2023

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Many factors, including reproductive hormones, have been linked to a woman’s risk of developing breast cancer (BC). We reviewed the literature regarding the relationship between ovulatory menstrual cycles (MCs) and BC risk. Physiological variations in the frequency of MCs and interference with MCs through genetic variations, pathological conditions and or pharmaceutical interventions revealed a strong link between BC risk and the lifetime number of MCs. A substantial reduction in BC risk is observed in situations without MCs. In genetic or transgender situations with normal female breasts and estrogens, but no progesterone (P4), the incidence of BC is very low, suggesting an essential role of P4. During the MC, P4 has a strong proliferative effect on normal breast epithelium, whereas estradiol (E2) has only a minimal effect. The origin of BC has been strongly linked to proliferation associated DNA replication errors, and the repeated stimulation of the breast epithelium by P4 with each MC is likely to impact the epithelial mutational burden. Long-lived cells, such as stem cells, present in the breast epithelium, can carry mutations forward for an extended period of time, and studies show that breast tumors tend to take decades to develop before detection. We therefore postulate that P4 is an important factor in a woman’s lifetime risk of developing BC, and that breast tumors arising during hormonal contraception or after menopause, with or without menopausal hormone therapy, are the consequence of the outgrowth of pre-existing neoplastic lesions, eventually stimulated by estrogens and some progestins.

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Section: Genetic Interferencementioning

confidence: 99%

Progesterone from ovulatory menstrual cycles is an important cause of breast cancer

et al. 2023

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“…1–5 The TNM staging system of American Joint Committee on Cancer is presently the only prognostic grading system currently available in clinical practice for selecting people with adjunctive chemotherapy. 6–11 Nevertheless, the TNM staging system cannot accurately anticipate relapse in breast cancer with radical surgery in many patients. Gene expression profiling based on microarrays has been successfully applied to clinical cancer research to segment cancer, anticipate prognosis, or assess treatment response.…”

Section: Introductionmentioning

confidence: 99%

Development and verification of a personalized immune prognostic feature in breast cancer

Wang

2020

Exp Biol Med (Maywood)

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Immune-related genes have great potential as prognostic markers in many types of cancer. Therefore, we have attempted to develop immune-related gene markers to enhance the prognosis of breast cancer; 1159 samples of breast cancer gene expression data and clinical follow-up messages were downloaded from TCGA and GEO, which were classified into training set, test set, and validation set. In the training set, the gene pairs are established according to the relative expression levels between 320 immune genes, in which the prognosis-related gene pairs are screened, and Lasso is used for feature selection to screen the robust biomarkers. A prognostic model of immune gene correlation was set up and verified. Sixty-six IRGPs were obtained, and 17-IRGPs signature was established. 17-IRGPs signature is an independent prognostic indicator for BC patients, which can stratify the risk in the training set and testing series, and AUC of five years survival was greater than 0.7; 17-IRGPs signature had better classification performance in patients with advanced BC. In addition, we compared the prognostic characteristics of 17-IRGPs with four reported breast cancers and clinical stages; 17-IRGPs achieved the highest average C index (0.7, P < 0.05), and functional analysis found that the dysregulated immune environment may be the cause of the observed difference in survival between patient groups defined by our characteristics. 17-IRGPs signature was constructed as a newly developed prognostic indicator to calculate the survival of BC patients. Impact statement Breast cancer is among the highest prevalent malignant tumors worldwide with a low survival ratio. Immune-related genes have great potential as prognostic indicator in many types of tumors. Therefore, we have attempted to develop immune-related gene markers to enhance the prognosis of breast cancer. 17-IRGPs signature was constructed as a newly developed prognostic indicator to predict the survival of BC patients.

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“…They may present with ambiguous genitalia, microphallus, severe hypospadias, and bifid scrotum that may contain gonads. 2 Complete AIS (CAIS) on the other hand has a complete female phenotype with testis and male equivalent androgen levels. They present with normal pubertal growth spurt and breast development with history of primary amenorrhea.…”

mentioning

confidence: 99%

“…1 Other tumors such as breast tumors are uncommon and are related to excessive hormone administration. 2…”

mentioning

confidence: 99%

Bilateral Breast Phyllodes Tumor in Androgen Insensitivity Syndrome

et al. 2023

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Phyllodes is a rare tumor found exclusively in females. It can be classified into benign, intermediate, or malignant variety based on the aggressive nature of the disease. With adequate preoperative clinical assessment combined with histopathology and radiological investigations the adequate treatment strategy can be formulated to avoid future recurrences. Complete androgen insensitivity syndrome (CAIS) is associated with a genotypic male, which can be confirmed by karyotyping, with phenotypic female characteristics. The present case is the first case of bilateral breast phyllodes tumor in a patient with CAIS. Preoperative assessment was suggestive of bilateral phyllodes tumor with bilateral gonads in the inguinal region which was confirmed to be testis postoperatively on histopathological analysis. A brief case report with review of literature is presented.

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Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy

Cited by 6 publications

References 15 publications

Progesterone from ovulatory menstrual cycles is an important cause of breast cancer

Progesterone from ovulatory menstrual cycles is an important cause of breast cancer

Development and verification of a personalized immune prognostic feature in breast cancer

Bilateral Breast Phyllodes Tumor in Androgen Insensitivity Syndrome

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