INTRODUCTION: Pregnancy-associated breast cancer (PABC) is described as breast cancer diagnosed within pregnancy or within 1 year postpartum. PABC is becoming more common due to delayed childbearing, with older maternal age increasing the likelihood of tumorigenesis coinciding with pregnancy. Our review aims to outline the important principles of managing PABC, and discusses future fertility implications, genetic testing and postnatal considera-tions that are not often considered in other existing reviews. METHOD: A literature search was conducted using PubMed, Cochrane and Google Scholar databases. RESULTS: A persistent breast mass in pregnant women should be evaluated with a breast ultrasound. Total mastectomy is the standard treatment in the first trimester. Chemotherapy is contraindicated in the first trimesters, but can be given in the second and third trimester, and stopped before 35 weeks. Radiotherapy should be delayed until delivery, and hormone receptor therapy is contraindicated in pregnancy. A multidisciplinary team involving an obstetrician, medical oncologist and other allied health professionals is crucial. Delivery should be planned as close to 37 weeks as possible, and at least 3 weeks after the last chemotherapy cycle. Vaginal delivery is preferred, and breastfeeding can resume 14 days after the last chemotherapy regime. CONCLUSION A breast mass in a pregnant woman should not be dismissed. PABC must be managed by multidisciplinary teams at tertiary medical centres with access to surgery and chemoradiation therapies. Management strategies must include safe manage-ment and delivery of the fetus, contraception and future fertility planning.
Humans ; Female ; Pregnancy ; Breast Neoplasms/diagnosis* ; Pregnancy Complications, Neoplastic/diagnosis* ; Mastectomy ; Delivery, Obstetric

Occult breast cancer (OBC) refers to a type of breast cancer where no primary lesion is detected through physical examination, imaging, and pathology. This report presents a clinical case of OBC with intestinal obstruction as the initial symptom. A 67-year-old female with no underlying conditions presented to Zhuzhou Hospital Affiliated to Xiangya School of Medicine, Central South University with intestinal obstruction. Contrast-enhanced CT of the abdomen showed thickening of the lower rectum and ascending colon, suggestive of a neoplastic lesion. Chest CT showed multiple enlarged lymph nodes in the left axilla. Colonoscopy revealed only mucosal congestion, roughness, and thickening. Suspecting an intestinal tumor, laparoscopic radical resection of the rectal stenosis was performed. Postoperative pathology indicated poorly differentiated adenocarcinoma of the rectum. Immunohistochemistry showed positive expression of estrogen receptor (ER), progesterone receptor (PR), GATA-binding protein 3 (GATA3), and cytokeratin 7 (CK7), suggesting breast cancer metastasis. Breast MRI revealed multiple proliferative nodules in both breasts (breast imaging reporting and data system, BI-RADS 2). Biopsies of the right lower-inner breast, bilateral axillary, and supraclavicular lymph nodes were performed. No carcinoma was found in the right breast tissues; however, small foci of carcinoma was detected in the right axillary lymph nodes, and poorly differentiated carcinoma of suspected breast origin was found in the bilateral supraclavicular and left axillary lymph nodes. The final diagnosis was OBC with lymph node and rectal metastasis. The patient died 16 months postoperatively. OBC often lacks identifiable primary breast lesions, and gastrointestinal metastases are particularly rare. Clinical manifestations are frequently masked by symptoms of metastatic lesions, making diagnosis challenging. Clinicians should maintain a high index of suspicion. Due to rapid disease progression and multiorgan involvement, prognosis is extremely poor. Early identification of the primary lesion in OBC is crucial for improving outcomes.
Humans ; Female ; Aged ; Intestinal Obstruction/etiology* ; Breast Neoplasms/pathology* ; Adenocarcinoma/diagnosis* ; Neoplasms, Unknown Primary/complications* ; Rectal Neoplasms/complications*

Fibromyalgia syndrome after comprehensive treatment of breast cancer is rare and seldom reported. Here we present a case of a 50-year-old female patient,who was admitted to the hospital because of generalized fibromyalgia for 3 months and brain metastasis after the right breast carcinoma surgery for 1 month, and the clinical diagnosis was brain metastasis from breast carcinoma combined with fibromyalgia syndrome. The fibromyalgia were relieved with proper symptomatic treatment but the patient eventually died of tumor progression.
Brain Neoplasms ; mortality ; secondary ; Breast Neoplasms ; complications ; mortality ; therapy ; Carcinoma ; mortality ; therapy ; Female ; Fibromyalgia ; diagnosis ; etiology ; therapy ; Humans ; Middle Aged

Pain perception is influenced by multiple factors. The single nucleotide polymorphisms (SNPs) of some genes were found associated with pain perception. This study aimed to examine the association of the genotypes of ABCB1 C3435T, OPRM1 A118G and COMT V108/158M (valine 108/158 methionine) with pain perception in cancer patients. We genotyped 146 cancer pain patients and 139 cancer patients without pain for ABCB1 C3435T (rs1045642), OPRM1 A118G (rs1799971) and COMT V108/158M (rs4680) by the fluorescent dye-terminator cycle sequencing method, and compared the genotype distribution between groups with different pain intensities by chi-square test and pain scores between groups with different genotypes by non-parametric test. The results showed that in these cancer patients, the frequency of variant T allele of ABCB1 C3435T was 40.5%; that of G allele of OPRM1 A118G was 38.5% and that of A allele of COMT V108/158M was 23.3%. No significant difference in the genotype distribution of ABCB1 C3435T (rs1045642) and OPRM1 A118G (rs1799971) was observed between cancer pain group and control group (P=0.364 and 0.578); however, significant difference occurred in the genotype distribution of COMT V108/158M (rs4680) between the two groups (P=0.001). And the difference could not be explained by any other confounding factors. Moreover, we found that the genotypes of COMT V108/158M and ABCB1 C3435T were associated with the intensities of pain in cancer patients. In conclusion, our results indicate that the SNPs of COMT V108/158M and ABCB1 C3435T significantly influence the pain perception in Chinese cancer patients.
ATP Binding Cassette Transporter, Sub-Family B ; genetics ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Breast Neoplasms ; complications ; diagnosis ; genetics ; pathology ; Catechol O-Methyltransferase ; genetics ; Female ; Gastrointestinal Neoplasms ; complications ; diagnosis ; genetics ; pathology ; Gene Expression ; Gene Frequency ; Genital Neoplasms, Female ; complications ; diagnosis ; genetics ; pathology ; Genital Neoplasms, Male ; complications ; diagnosis ; genetics ; pathology ; Genotype ; Humans ; Lung Neoplasms ; complications ; diagnosis ; genetics ; pathology ; Male ; Middle Aged ; Pain ; complications ; diagnosis ; genetics ; pathology ; Pain Measurement ; Pain Perception ; Polymorphism, Single Nucleotide ; Receptors, Opioid, mu ; genetics

Abnormalities, Drug-Induced ; etiology ; Abnormalities, Radiation-Induced ; etiology ; Antineoplastic Agents ; adverse effects ; Breast Neoplasms ; diagnosis ; therapy ; Contraindications ; Female ; Humans ; Mastectomy ; Neoplasm Staging ; Pregnancy ; Pregnancy Complications, Neoplastic ; diagnosis ; therapy ; Prognosis ; Radiotherapy ; adverse effects ; Risk Assessment ; Risk Factors ; Sentinel Lymph Node Biopsy

Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.
Arteriovenous Malformations/radiography ; Breast Neoplasms/*complications/*diagnosis/ultrasonography ; DNA/analysis ; DNA Mutational Analysis ; Diagnosis, Differential ; Female ; Hamartoma Syndrome, Multiple/*complications/*diagnosis/genetics/ultrasonography ; Humans ; PTEN Phosphohydrolase/genetics ; Thyroid Neoplasms/radiography ; Tomography, X-Ray Computed ; Young Adult

Aged ; Breast Neoplasms ; complications ; Female ; Humans ; Skin Neoplasms ; diagnosis ; etiology

Breast Neoplasms ; complications ; epidemiology ; Eye Neoplasms ; diagnosis ; epidemiology ; secondary ; Female ; Humans

Li-Fraumeni syndrome (LFS) is a rare, inherited syndrome associated with increased risk of various early-onset tumors. Since the introduction of classic LFS criteria, various criteria have been proposed to include patients with incomplete LFS features, which make up Li-Fraumeni-like syndromes (LFL). Germline missense mutations of TP53 are the primary cause of LFS and LFL. Mutations mostly reside in the DNA-binding domain of the gene and have a dominant-negative effect (DNE) over alternate wild-type alleles. Germline TP53 mutation c.566C>T results in the missense mutation GCC (Ala) to GTC (Val) at codon 189 (A189V) and has been reported in a case of multiple primary colon tumors. Herein we report a second case of the same mutation in a breast cancer patient, who has familial history of late-onset malignancies. Due to the relatively late onset of malignancies, neither case fulfils previously defined criteria for the syndrome. Mutational analysis for breast tissue in this patient showed a loss of heterozygosity. These clinical features may suggest a relatively weak DNE of A189V compared to other TP53 mutations, and in silico predictions and in vitro findings of the function of A189V mutant protein are conflicting. Considering the increased risk of malignancies and the therapeutic implications for patients who have a TP53 mutation, care must be taken when treating those who are suspected of possessing cancer-prone traits due to TP53 mutation, especially when there is a family history of late-onset cancer with low penetrance.
Adolescent ; Adult ; Breast Neoplasms/complications/*diagnosis/therapy ; Combined Modality Therapy ; Exons ; Female ; Genotype ; Heterozygote ; Humans ; Li-Fraumeni Syndrome/complications/*diagnosis/therapy ; Middle Aged ; Multimodal Imaging ; Mutation, Missense ; Pedigree ; Sequence Analysis, DNA ; Tumor Suppressor Protein p53/genetics ; Young Adult

Li-Fraumeni syndrome (LFS) is a rare, inherited syndrome associated with increased risk of various early-onset tumors. Since the introduction of classic LFS criteria, various criteria have been proposed to include patients with incomplete LFS features, which make up Li-Fraumeni-like syndromes (LFL). Germline missense mutations of TP53 are the primary cause of LFS and LFL. Mutations mostly reside in the DNA-binding domain of the gene and have a dominant-negative effect (DNE) over alternate wild-type alleles. Germline TP53 mutation c.566C>T results in the missense mutation GCC (Ala) to GTC (Val) at codon 189 (A189V) and has been reported in a case of multiple primary colon tumors. Herein we report a second case of the same mutation in a breast cancer patient, who has familial history of late-onset malignancies. Due to the relatively late onset of malignancies, neither case fulfils previously defined criteria for the syndrome. Mutational analysis for breast tissue in this patient showed a loss of heterozygosity. These clinical features may suggest a relatively weak DNE of A189V compared to other TP53 mutations, and in silico predictions and in vitro findings of the function of A189V mutant protein are conflicting. Considering the increased risk of malignancies and the therapeutic implications for patients who have a TP53 mutation, care must be taken when treating those who are suspected of possessing cancer-prone traits due to TP53 mutation, especially when there is a family history of late-onset cancer with low penetrance.
Adolescent ; Adult ; Breast Neoplasms/complications/*diagnosis/therapy ; Combined Modality Therapy ; Exons ; Female ; Genotype ; Heterozygote ; Humans ; Li-Fraumeni Syndrome/complications/*diagnosis/therapy ; Middle Aged ; Multimodal Imaging ; Mutation, Missense ; Pedigree ; Sequence Analysis, DNA ; Tumor Suppressor Protein p53/genetics ; Young Adult