BACKGROUND: The human cytochrome P450 (CYP) superfamily encompasses different categories of isoenzymes that contribute to multiple metabolic processes involving drug detoxification, cellular signaling, and the proliferation of malignant tissues. Using genetic technology, customized bioinformatic analysis, and meta-analysis design, the main goal of this study was to identify the association between the CYP1A2*rs762551 variant and the susceptibility to breast carcinoma (BRCA).
METHODS: The case-control study was conducted based on 104 BRCA women and 102 healthy controls. Using the TaqMan allelic discrimination assay, the CYP1A2 (rs762551; c.-9-154 C>A) variant was genotyped. Bioinformatic frameworks and logistic regression analysis were used to assess the involvement of this genetic variant in BRCA development. A meta-analysis design was accomplished based on our case-control study and other previously published records. Publication bias, heterogeneity between studies, and trial sequential analysis (TSA) were analyzed.
RESULTS: The CYP1A2*rs762551 variant conferred protection against BRCA development under allelic (OR = 0.48, p-value < 0.001), dominant (OR = 0.34, p-value < 0.001), and recessive (OR = 0.44, p-value = 0.011) models. However, this intronic variant was correlated with a decreased risk of BRCA among late-onset menopause women compared to other cases. Bioinformatic analysis confirmed that this genetic variant has a functional impact on the progression of tumorgenesis. Moreover, this meta-analysis design included 12922 BRCA women and 15603 healthy controls. Our findings disclosed the contribution of the CYP1A2*rs762551 variant with protection against cancer development among Caucasian females under allelic (OR = 0.75, p-value = 0.025), and dominant (OR = 0.58, p-value = 0.015) models.
CONCLUSIONS: This case-control study confirmed the contribution of the CYP1A2*rs762551 variant with decreased risk of BRCA development among Egyptian subjects. Moreover, BRCA women with late-onset menopause conferred protection against cancer progression compared to other subjects. Our findings identified that this meta-analysis design achieved protection against BRCA development among Caucasian women compared to other ethnicities.

Posterior reversible encephalopathy syndrome (PRES) in breast carcinoma is a rare disease in clinical practice that is often misdiagnosed and ignored. This study reported a case of a patient admitted to our hospital and discussed the clinical, imaging, and pathogenesis properties of the disease. We retrospectively analyzed the clinical data of this patient and reviewed the relevant literature. Imaging was used to diagnose PRES based on clinical findings, and clinical symptoms improved after discontinuation of the relevant drugs.

BACKGROUND: Ovarian steroid cell tumors not otherwise specified (OSCT-NOS) are extremely rare ovarian sex cord stromal tumors, accounting for <0.1 % of all ovarian tumors. In 25 % of cases, they are asymptomatic leading to a delay in diagnosis. We, herein, report a singular case of OSCT-NOS diagnosed incidentally during the spread assessment of an invasive breast carcinoma of no special type (IBC-NOS). To the best of our knowledge, this is the first reported case of co-occurrence of OSCT-NOS and IBC-NOS. We aim to study the clinic-pathological characteristics of this rare tumor.
METHODS: A 56-years old postmenopausal female, with no previous medical history, was diagnosed with an invasive IBC-NOS. The tomography performed during the spread assessment of IBC-NOS showed a suspicious mass of the right ovary. Pelvic MRI revealed an ovarian solid T1 isointense and T2 hyperintense mass. The first evoked diagnosis was an ovarian metastasis of the IBC-NOS. The patient underwent bilateral salpingo-oophorectomy. On gross examination, an ovarian solid mass measuring 2,5x2cm, with a firm gray yellowish cut surface was noted. Microscopic examination and immunostaining concluded to OSCT-NOS and ruled out the diagnosis of an ovarian metastasis of IBC-NOS.
CONCLUSIONS: OSCT-NOS are rare neoplasms. Their diagnosis might be challenging especially in absence of hormonal symptoms. A better knowledge of this rare entities would enable early diagnosis.

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We described a 58-year-old female diagnosed with zosteriform cutaneous metastases from breast carcinoma. She was initially diagnosed with herpes zoster. Correct diagnosis was obtained after pathological biopsy. Various forms of cutaneous metastases have various forms, which require careful discrimination by dermatologists to reduce the rate of misdiagnosis.

UNASSIGNED: Paraneoplastic neurologic syndromes encompass a group of neurologic disorders arising from pathological processes unrelated to metastasis, metabolic disturbances, infections, coagulopathy, or treatment-related side effects. These syndromes can affect various regions of the nervous system, resulting in diverse clinical manifestations.
UNASSIGNED: The authors present a rare case of anti-amphiphysin-associated meningoencephalitis in a South Asian Pakistani woman. Initially, the patient was managed for suspected infectious meningitis, but empirical treatment failed to yield improvement. Subsequent investigations unveiled a paraneoplastic syndrome secondary to breast cancer.
UNASSIGNED: Diagnosing these clinical entities is challenging due to their multifaceted presentations, often leading to delayed identification, increased patient suffering, economic burdens, and preventable complications.
UNASSIGNED: Anti-amphiphysin-associated meningoencephalitis is a rare manifestation of paraneoplastic syndromes. It is crucial to raise awareness among healthcare professionals about the diverse presentations of paraneoplastic syndromes.

Pigmented mammary Paget disease is a rare variant of mammary Paget disease that is often clinically misdiagnosed as a melanocytic lesion of the skin or nipple-areolar complex. Careful morphological assessment, along with the performance of adequate immunohistochemical stains, will help in achieving the right diagnosis and avoiding misdiagnosis of the entity as malignant melanoma. We report a rare case of pigmented mammary Paget disease with concomitant colonization of the underlying invasive ductal carcinoma by melanocytes mimicking melanoma.

Lymphedema (LE) in a breast cancer patient usually results from axillary lymph node dissection, sentinel lymph node biopsy, and/or axillary radiotherapy. Although lymphatic obstruction and consequent LE can occur due to axillary lymph node involvement, such presentation in breast cancer patients has rarely been reported. This report describes the case of a 50-year-old lady with right breast carcinoma who presented with right upper limb lymphedema. Surprisingly, she did not have any bulky axillary lymphadenopathy that could have accounted for lymphedema of the upper limb, but a suspicious breast mass was present on clinical examination. Diagnosis of breast cancer on clinical examination can be challenging in such patients due to breast edema and careful imaging of the breast and axilla with appropriate imaging tools (mammogram, ultrasound, MRI, PET mammography) should be resorted to before excluding malignancy. Lymphoscintigraphy confirmed the findings of lymphedema in the right upper limb and revealed uptake in the epitrochlear lymph nodes of the contralateral limb suggesting that she might had pre-existing widespread \"subclinical lymphedema\" which presented as \"clinical lymphedema\" in right upper limb after axillary lymph node/lymphatic involvement by right breast carcinoma.

Metastasis to the bone is a known risk of breast cancer, with the humerus being the most common upper extremity site of metastases, with most lesions located at the humeral diaphysis. We present a unique case of proximal humeral metastasis involving the epiphysis secondary to primary invasive ductal carcinoma in a middle-aged Caucasian female. It is important to have a high degree of suspicion for metastasis when musculoskeletal pain occurs in breast cancer patients, as it may be masked by common, degenerative conditions about the shoulder girdle. When humeral metastases involve the epiphysis, treatment options are complicated by its location, which jeopardizes the integrity of articular cartilage and the function of the shoulder girdle. External beam irradiation provides pain control in a non-invasive manner, sans surgical risks. Surgical intervention will vary depending on the characteristics of the bony lesion, but the use of endoprosthetics has emerged as the most effective option for restoring range of motion and pain control with acceptable rates of implant survival.

Peritoneal metastasis from breast cancer is a relatively rare life-threatening condition. The gold standard for diagnosing peritoneal metastasis is a direct peritoneal biopsy. In this report, we describe an interesting case of peritoneal inflammation mimicking peritoneal metastasis in a patient with breast cancer, as confirmed by laparoscopic peritoneal biopsy. A 45-year-old woman with a history of right breast cancer presented with a peritoneal wall mass seen on an abdominal computed tomography (CT) in routine follow-up. She underwent right skin-sparing mastectomy with sentinel lymph node biopsy with direct to implant reconstruction 6 years prior and underwent right salpingo-oophorectomy 2 years before. Positron emission tomography-computed tomography (PET-CT) and abdominopelvic CT showed multiple enhancing nodules in small bowel mesentery and right peritoneal wall with a small amount of ascites, which led to a strong suspicion of peritoneal metastasis. After a multidisciplinary conference, the possibility of peritoneal seeding became doubtful. Laparoscopic biopsy was performed, and peritoneal wall mass biopsy was subsequently performed. Pathologic results showed no evidence of peritoneal metastasis of breast cancer. The peritoneal biopsy specimen revealed postoperative fibrosis and inflammation with some meal content. Although rare in breast cancer, peritoneal metastasis can produce a devastating outcome if left undiagnosed. Despite the imaging findings strongly suggesting metastasis, biopsy confirmation for the suspected lesion was necessary. This not only verifies true metastasis but also determines the treatment options available for the patient and thus unnecessary treatment can be avoided.