Correlation of Ki-67 proliferative index with oncotype DX recurrence score in hormone receptor-positive, human epidermal growth factor receptor 2-negative early breast cancer with low-burden axillary nodal disease - a review of 137 cases.

The use of chemotherapy in breast cancer management has significantly contributed to the decrease in its mortality. Currently, the prognosis is determined by molecular biomarkers, such as oestrogen receptors, and human epidermal growth factor receptor 2. However, the increasing use of advanced molecular technologies, including oncotype DX recurrence score (ODX-RS), has provided the ability to estimate the risk of recurrence. Research has demonstrated that the ODX-RS helps to predict recurrence risk and the potential benefit of chemotherapy in breast cancer. As a result, it can assist clinicians in making decisions regarding using the chemotherapy. The goal of work is to explore the correlation between the ODX-RS and Ki-67 proliferative index (Ki-67-PI). This study included 137 patients with oestrogen positive, human epidermal growth factor receptor 2-negative early breast cancer, and had non- or early axillary disease. Patients with low Ki-67-PI were as follows: low ODX-RS in 17%, intermediate ODX-RS in 80%, and high ODX-RS in 2%. In the high Ki-67-PI group: low ODX-RS in 12%, intermediate ODX-RS in 48%, and high ODX-RS in 40%. In conclusion, the results show no significant correlation between the ODX-RS and Ki-67-PI (r = 0.511, p-value < 0.9).

Gallstone Ileus as an Infrequent Cause of Bowel Obstruction: A Review of Small Cohort.

Introduction Gallstone ileus is an uncommon cause of small bowel obstruction; it is a rare complication of calculus chronic cholecystitis which leads to cholecystoenteric fistula and impaction of gallstone in the gastrointestinal tract leading to mechanical bowel obstruction. Our aim is to report the natural history and management of this rare condition in a teaching hospital. Materials and methods It is a retrospective study, where 10 years of data related to the management of intestinal obstruction secondary to gallstone ileus was collected. The cohort included 10 patients, whose demographic data, clinical findings, and management outcomes were evaluated. Results Majority of patients were female (90%, n=9) with a median of 83 years (range 61-96) although 90% of the population were above 70 years. Presenting complaints were mostly pain and vomiting. The onset of symptoms was between two and seven days. The site of obstruction was mostly the ileum (n=9) with the exception of one case in the sigmoid proximal to a benign stricture, and the size of the stone ranged from 2.5 to 4 cm. Moreover, most of the patients had a previous history of gallstone (n=7) with one post-cholecystectomy status. The laboratory investigations in 50% of patients had deranged liver function test (LFT) and acute kidney injury (AKI), and 60% had raised inflammatory markers, namely, white blood cells (WBC) and C-reactive protein (CRP). Intervention as enterolithotomy was the preferred approach (n=8 (two laparoscopic, six open surgery)), and two patients were managed conservatively. The mean postoperative length of stay was 10 days in the open approach and five days in the laparoscopic approach, respectively. Conclusions Elderly female patients are more prone to have gallstone ileus particularly with a past medical history of gallstones, and the preferred management option is enterolithotomy which could be open or laparoscopic depending on the expertise of the surgeon.

Paediatric and Adolescent Breast Cancer: A Narrative Review.

Breast cancer is the most prevalent form of cancer worldwide. Every year, it affects a significant number of women in the UK and is considered one of the leading causes of cancer-related deaths globally. While breast cancer is primarily linked to adult women, its occurrence in children and adolescents is exceedingly rare. This study conducted a narrative review spanning from 1999 to 2023, examining 32 case reports to investigate the characteristics of breast cancer in the paediatric age group. These reports focused on patients under 18 years old who were diagnosed with primary glandular breast cancer, excluding cases originating from other tissues like angiosarcoma, leukaemia, and metastatic cancer. The data analysis encompassed various parameters, including gender, age, histology, receptor status, lymph node involvement, treatment methods, and genetic characteristics. From the published case reports, it was concluded that the most common type of breast cancer affecting children and adolescents is secretory breast carcinoma and predominantly occurs in females. It is typically hormone receptors negative, and the preferred treatment approach involves mastectomy as breast conservation surgery to preserve the developing breast tissue is a real challenge due to limited breast tissue volume in this age group.

Li-Fraumeni Syndrome, A Rarity Among Rarities: A Case Report and Review of Literature.

Li-Fraumeni syndrome (LFS) is a rare inherited cancer susceptibility disorder with a wide tumour spectrum, particularly in children and young adults. Patients with LFS have life-long cancer risk, and the most commonly encountered tumours include soft tissue sarcoma, breast cancer, brain tumours, osteosarcoma, leukaemia and adrenocortical carcinoma. LFS is associated with mutations in the tumour suppressor gene TP53, andnearly two-thirds of families with LFS have this germline mutation. However, the diagnosis of LFS is currently based on recognised strict clinical criteria regardless of the genetic mutation status, as a few families with the clinical characteristics and cancer predisposition of LFS do not have TP53 mutations. Breast cancer is particularly significant among the common malignancies associated with LFS as it is the most common cancer in women worldwide. We present a case of a 27-year-old woman with unilateral breast cancer, in whom further history revealed a brain tumour at the age of 14 years. Due to the early onset of breast cancer and history of childhood malignancy, we suspected LFS. Genetic testing revealed a TP53 mutation, further suggesting the diagnosis of LFS. This has important implications in managing this patient's breast cancer, as the need for risk-reducing mastectomy and arranging a special surveillance programme. It also has great implications for the patient's family members, especially in terms of psychological impact, particularly when the mutation has been detected in children. Also, there is a need for periodic surveillance, which can help in early diagnosis and timely treatment with a more favourable outcome.

Uremic Bilateral Breast Calciphylaxis: A Case Report and Literature Review.

Calciphylaxis, also called calcific uremic arteriolopathy, is a rare benign cutaneous manifestation. Although little is known about its pathogenesis, it is thought to be a result of vascular wall calcification leading to soft tissue necrosis, and it is usually encountered in patients with end-stage kidney disease (ESKD) on long-term renal dialysis. Breast calciphylaxis is a rare entity that may present as a breast mass or necrotic ulcers, and it is common for it to be initially mistaken for a malignant breast pathology. In this article, we present a case of bilateral breast calciphylaxis in a 66-year-old female with ESKD receiving long-term dialysis.

Unique Case of Parathyroid Adenoma With Arteriovenous Malformation.

Direct communication between dysmorphic arteries and veins without an interceding capillary segment is known as arteriovenous malformation (AVM). Its etiology is still unknown; however, it is commonly acknowledged that it could be related to trauma or is congenital in origin. Often, AVMs are found in the central nervous system or other sites such as under the skin or in the deep solid organs. They can be encountered as a solitary abnormality or associated with another pathology. If they are large enough, they can deprive the neighboring tissue of oxygen, eventually leading to tissue damage and compressing the surrounding organs, causing potentially more serious consequences. AVM in parathyroid adenoma is an unusual entity in the medical reports and known clinical practice. We herein report a unique case of a 49-year-old female patient who presented with a neck mass and associated symptoms of hyperparathyroidism (HPT) with no history of previous trauma or surgery. The imaging and laboratory tests were consistent with parathyroid neoplasm. Parathyroidectomy was performed and revealed parathyroid adenoma with AVM.

Diverticulitis and Diverticulosis of the Appendix: A Case Series.

Introduction Diverticula of the appendix is a rare entity, may be complicated by inflammation/infection, and clinically mimics acute appendicitis. The reported associated risk factors include male gender, Hirschprung's disease, cystic fibrosis and adult age, where some reports claim that they are also associated with an increased risk of appendiceal malignancy. Imaging has a place in pre-operative diagnosis, however, most of the cases were diagnosed during a pathological examination after surgery. They are associated with a higher rate of perforation (more than four times compared with classical acute appendicitis). In this review, we present a case series of five patients diagnosed with diverticulitis and one with diverticulosis of the appendix that were managed at a single centre. Our aim is to explore the common clinical, radiological, and intra-operative findings associated with this disease as well as the outcome of management. Materials and methods A total number of six cases of diverticular disease of the appendix diagnosed and managed at Basildon University hospital in the period between 2016 and 2020 were studied. The demographic details and clinical data including presenting symptoms, laboratory results, radiological characteristics, intraoperative findings and histopathological features were analysed. Results The study group included four males and two females, with an age range of 20-84 years. The most common presenting clinical symptoms were right iliac fossa abdominal pain, nausea, anorexia, and diarrhoea. Half of the cases showed a thickened appendix in the pre-operative CT scan. An inflamed or perforated appendix was seen in five cases as well as inflammation of the diverticula. Conclusion Appendiceal diverticulitis is an uncommon pathology that imitates acute appendicitis, and appendicectomy is the standard treatment. Prophylactic appendicectomy is recommended for non-inflamed diverticula - this is due to the potential risk of inflammation, perforation, and the risk of developing an appendiceal neoplasm.

The Oncotype DX Recurrence Score's Impact on the Management of Oestrogen-Positive/Human Epidermal Growth Factor Receptor 2-Negative, Low-Burden Axillary Status Breast Cancer (REHAB Study): Results of a Single Centre.

Background The Oncotype DX Recurrence Score (ODX-RS) is increasingly utilized in oestrogen receptor (ER)-positive/human epidermal growth factor receptor 2 (HER2)-negative, low-burden axillary disease early operable breast cancer. It has been demonstrated to predict the benefits of adjuvant chemotherapy, hence supporting individualized decisions on adjuvant therapy. Aim To investigate the application of ODX-RS as an adjuvant treatment decision tool in breast cancer operated in our unit. Methods A total of 107 eligible patients who were operated on between 2017 and 2021 in Basildon University Hospital, UK were enrolled in this study. In this retrospective study, the clinical data, including patient's age, tumour size, ER status, HER2 status, Ki67 proliferative index (Ki67-PI), nodal status, tumour grade, and ODX-RS, were collected. In the study design, the oncologist had the opportunity to assess the need for adjuvant chemotherapy for patients with ER-positive, HER2-negative, low-burden axillary lymph node disease, early breast cancer by using tumour characteristics and the PREDICT tool without knowing the ODX-RS results. The clinician's decision was matched against the breast multidisciplinary team's recommendations after ODX-RS utilisation, and the results were explored. Results The median ODX-RS of cohort tumours was 18 in the age group > 50 years, with ODX-RS ≥ 26 found in 18% of the group (n = 12). In the age group ≤ 50 years, 17% (n = 7) had ODX-RS between 21 and 25 and only 7% (n = 3) had ODX-RS ≥ 26. Without using ODX-RS, only 16% of the patients had been offered adjuvant chemotherapy in addition to the hormonal manipulation therapy; however, after using ODX-RS, up to 33% of the cohort was suitable for adjuvant chemotherapy in addition to the hormonal manipulation therapy. The changes in the recommendations after ODX-RS utilisation have been noticed in 29% of the cohort. Conclusion This study revealed that ODX-RS supported decision-making regarding postoperative adjuvant chemotherapy, especially when other tumour biomarkers, such as tumour size, grading, or Ki-67, indicated lower risk criteria. Patients with a high ODX-RS were offered chemotherapy where appropriate and its use led to a 15% rate of initial decision change in adjuvant treatment decisions; this involved either recommending chemotherapy or its omission.

Isolated Leptomeningeal Metastasis of Breast Cancer During Neo-Adjuvant Chemotherapy: A Case Report.

The incidence of symptomatic brain metastasis from breast cancer ranges from ~10% to 15%. Brain parenchymal metastasis comprises most of this and has been studied more extensively, whereas isolated leptomeningeal carcinomatosis (LC) is exceedingly rare. The diagnosis is most commonly made by lumbar puncture and cerebrospinal fluid (CSF) cytology, although it is persistently negative in about 10% of patients, and hence its pre-mortem diagnosis remains difficult and controversial. There are limited therapeutic options available making the prognosis abysmal. It has been reported that locally responsive breast cancers on chemotherapy can develop CNS metastasis; the blood-brain barrier and the unique brain microenvironment are hypothesized to promote distinct molecular features in such CNS metastases. We present a 37-year-old female with a large triple-negative, node-positive grade three invasive ductal carcinomas with Ki-67 70%. Despite the local response to neoadjuvant chemotherapy, she developed rapidly worsening multiple neurological symptoms. MRI brain showed leptomeningeal enhancement and CSF cytology results were negative with inconclusive other CSF studies. The patient deteriorated very rapidly and a post-mortem diagnosis of isolated LC was made. The notable aspects of this case include the development of a rapidly progressive isolated LC despite the good local response to the chemotherapy, which requires further studying. As the currently available diagnostic and therapeutic tools have limitations, research can be critical in providing better outcomes for this fatal disease.

Thyroid Hemiagenesis: Narrative Review and Clinical Implications.

Thyroid Hemiagenesis (THA) is an uncommon, congenital anomaly defined by the absence of one thyroid lobe with or without the isthmus. Reports suggest it may be found more often in regions endemic for hypothyroidism. Genetic abnormalities are thought to have a role based on findings in monozygotic twins. Most cases are sporadic, however familiar clusters have also been documented. It is found more frequently in females. A majority of patients report no symptoms and THA is found incidentally during investigations or intraoperatively. THA is usually associated with normal thyroid function, but it can present with thyroid hypofunction. Since a majority of patients are asymptomatic, there are no specific recommendations for management. Ultrasound imaging and thyroid scintigraphy using technetium or iodine are useful in diagnosis. Its clinical importance occurs when the remnant thyroid lobe requires excision leading to the lifelong requirement for thyroxine supplementation. Published English literature (Medline, PubMed, and Embase databases) was searched. Medical subject headings (MeSH) terms used were "thyroid hemiagenesis," "one thyroid lobe," and "thyroid aplasia". Case reports, case series, and original articles were selected to provide a framework for this review. Articles reviewed were published in the past 20 years. The association of THA with thyroid cancer was explored. In this group, the F:M ratio was 3.25:1. Left THA constituted 53% of cases, right THA in 29.4%, and isthmus absence in 17.6% of cases. Also, the authors investigated the link between THA and hyperparathyroidism, both left and right THA are seen in an equal number of cases in the hyperparathyroidism subgroup. In patients with THA and Grave's disease, left THA was seen in a majority of cases (86.7%), while an equal number of left and right THA was observed in patients with Hashimoto's thyroiditis. In addition, congenital abnormalities associated with THA were observed, the left THA was seen in 60% and right THA in 40% of cases of this subgroup. The summative review provided a detailed insight into the epidemiology, aetiopathogenesis, genetics, symptomatology, diagnosis, and treatment for THA by combining findings and results from almost a hundred research papers from around the world. THA remains a poorly understood, often incidentally detected, abnormality in euthyroid patients undergoing investigations and treatment for other thyroid disorders.

Gastric Schwannoma as an Important and Infrequent Differential Diagnosis of Gastric Mesenchymal Tumours: A Case Report and Review of Literature.

The spectrum for gastrointestinal tract mesenchymal tumours includes leiomyomas, leiomyosarcomas, gastrointestinal stromal tumours (GISTs) and schwannomas. Schwannomas (also known as neuroma, neurilemmomas or neurinomas of Verocay) are well-known slow-growing, benign neoplasms that originate from nerve plexuses within a Schwann cell sheath. They can arise anywhere along the course of the peripheral nerve and are frequently reported around the head and neck, brachial plexus and along the gastrointestinal tract. Usually, these tumours are detected as solitary; however, they can occur at multiple sites around the body. Schwannomatosis (multiple schwannomas) is usually associated with neurofibromatosis type 2; the pathogenesis is triggered by mutations of the neurofibromatosis 2 tumour suppressor gene resulting in a loss of its function. Solitary gastric schwannomas are rare lesions that arise from the nerve plexus of the gastric wall. Frequently they are detected incidentally or may present with nonspecific abdominal pain or bleeding. This paper reports the case of a 79-year-old patient diagnosed with gastric schwannoma after presenting with abdominal pain. Gastric schwannomas should be taken into consideration while making a differential diagnosis of lesions that are gastric mesenchymal tumours, which span a broad spectrum. Gastric schwannomas are typically benign, considerably less common than gastric GISTs, and have an excellent prognosis following excision.

Prevalence of Carcinoma in Appendectomy Specimens for Patients Presenting With Acute Appendicitis: A Single-Center Study.

Introduction Acute appendicitis is the most common general surgical emergency globally. Its etiology includes the presence of luminal obstruction by faecoliths, lymphoid hyperplasia, impacted stool, and rarely by appendiceal or caecal cancer. Malignancy related to acute appendicitis is usually seen in the older age group. Aim To identify the subset rate of patients operated for acute appendicitis who have appendiceal carcinoma and analyze the outcome of their post-operative management. Material and methods A retrospective study of a cohort of 529 patients aged > 40 diagnosed with acute appendicitis with subsequent appendectomy in the period between 1 January 2014 and 31 December 2019 at Basildon and Thurrock University Hospital, Essex, United Kingdom was conducted. We analyzed the clinical data of the cohort including demographic information, diagnosis, pre-operative imaging, histological diagnosis as well as post-operative management where indicated. Results The median age of patients was 54.5 years (range 40-92). The male to female ratio in the appendicectomy cohort was 1:1.1. About 45% were aged 40-49 years, 24.8% were aged 50-59 and 30.2% were ≥60 years. Post-operative histology revealed acute appendicitis in 82.4% of the group. In 11% of the patients, the histology revealed the presence of other benign pathology as mucocele of the appendix, acute diverticulitis, follicular hyperplasia, and fibrous obliteration. The diagnosis of appendicular malignancy was seen in 1.9%. Conclusion Incidental appendiceal cancers in the resected specimens after acute appendicitis are rare but may be associated with a poor prognosis. It is recommended to consider such diagnosis in particular when dealing with acute appendicitis in older patients with longer symptom history, and in presence of peri-appendicular mass.

Breast Apocrine Carcinoma Detected Incidentally as Axillary Lymphadenopathy in a CT Scan.

Breast apocrine cell pathology varieties include benign papilloma, non-high-grade apocrine ductal carcinoma in situ (DCIS), and breast invasive apocrine carcinoma (BAC). BAC is a rare type of invasive breast cancer and is histologically distinguished by large-sized cells with copious eosinophilic granular cytoplasm, round nuclei, and prominent nucleoli. Its prognosis is similar to breast invasive ductal carcinoma, of no special type (IDC-NST), when matched for tumour stage and histological grade. In this paper, we report the case of a 75-year-old lady presenting with apocrine carcinoma of the left breast diagnosed at the stage of mediastinal lymph node metastasis.

Metastatic Malignant Melanoma With Occult Primary Presenting as Breast Mass: A Case Report and Literature Review.

Skin malignant melanoma (MM) is a malignant neoplasm that arises from the melanocytes in the basal layer of the epidermis. It is considered an aggressive neoplasm and is responsible for 75% of skin cancer deaths. Here we present a case of a young female patient who presented with a left breast mass and investigations revealed multiple disease foci from an occult MM.

Male Triple-Negative Breast Cancer.

Male breast cancer is a rarely encountered disease, when compared with female breast cancer, often detected in more advanced stage at the time of diagnosis, and associated with more lymph node metastasis rates, more estrogen receptors positivity, and less human epidermal growth factor receptor-2 expression (HER-2) rates. Surgical management also shows some difference, where the most common operative technique of male breast cancer patients is mastectomy and/or axillary surgery. Triple-negative breast cancer is less frequent than other subtypes and is associated with poorer prognosis. This is because of its association with higher histopathological grade than that in other types of breast cancer. Only fewer treatment options are available compared to hormone-positive, HER-2 positive breast cancer. We are present a case of 71-year-old gentleman with triple-negative breast cancer.

Incidental Malignant Colonic Polyp Detected in a Resected Ischaemic Large Bowel: A Case Report and Literature Review.

Most patients with bowel cancer are symptomatic at the time of the diagnosis. They may present with a change in bowel habit, bleeding per rectum, abdominal pain, anaemia, weight loss or bowel obstruction. Colonic carcinoma can also be diagnosed incidentally during screening programs. Moreover, it may be incidentally detected in CT scans being performed for other indications or encountered during surgery for other causes. Some patients with colonic bowel ischaemia have associated large bowel cancer, where the ischaemic segment is usually proximal to the tumour and not necessarily associated with bowel obstruction. We are presenting a rare case of incidental malignant colonic polyp detected in a resected ischaemic large bowel in an 88-year-old gentleman. This was a very small tumour that was not visible macroscopically or detectable by imaging. Pathological examination of non-tumour colorectal resection specimens, as in this case, should include careful macroscopic examination and sequential block selection along the length of the colon, and where there is diffuse mucosal abnormality, block selection at 100mm interval is also advised. Attention to and block selection from any suspicious-looking area is warranted in all cases of non-tumour colorectal resections if such microscopic-sized malignancies of the type seen in our patient are to be picked up.

The Rare Diagnosis of Synchronous Breast and Colonic Cancers: A Case Report and Review of Literature.

Any two or more primary malignant tumors, in which each tumor is not an extension, recurrence, or metastasis of the other lesion, are defined or described as multiple primary malignant neoplasms (MPMN). These tumors are increasingly diagnosed despite their rare occurrence rate. The term synchronous tumors is applied if two different tumors originating in the same patient are detected at the same time or within six months; if the second tumor is detected beyond six months, it is called metachronous. Aetiological factors that may predispose patients to MPMNs have been grouped into three broad categories: familial cancer syndromes and other genetic susceptibility factors, common exposures (e.g. tobacco), and carcinogenic effects of cancer treatment. The likelihood of missing asymptomatic synchronous tumors at the time of diagnosis is due to a lack of definitively set guidelines for synchronous tumors. Studying every individual case may aid us in understanding disease biology, developing diagnostic guidelines, and establishing patient-specific management strategies. We present a case report of synchronous breast and colonic cancer in a female patient.

Hormone Receptor Down-Regulation in Metastatic Breast Cancer After Endocrine Therapy Detected in Oophorectomy: A Case Report and Review of Literature.

Globally, breast cancer is the most frequently diagnosed malignancy among women; it is also one of the leading causes of cancer mortality among females. The most common sites for metastases are the lungs, bones, liver, and brain. Breast cancer is recognized as one of the most common primary sites of metastatic lesions in the ovaries and is often associated with multiple extra-ovarian metastases. Here, we report a case of occult breast cancer metastases to the ovaries with a down-regulated hormonal immunohistochemistry profile after endocrine therapy, encountered incidentally after oophorectomy.

Breast Atypical Apocrine Adenosis: A Case Report and Literature Review.

Atypical apocrine adenosis (AAA) is a benign lesion of the breast that is identified more frequently today than in the past when it was considered a rare diagnosis and commonly misdiagnosed as other malignant lesions of the breast. AAA is defined as the presence of apocrine cytology in a recognisable lobular unit associated with sclerosing adenosis. We present a case of an incidental finding of AAA and discuss diagnostic challenges and their implications on clinical management.

Posterior Mediastinal Paravertebral Müllerian cyst (cyst of Hattori): literature review.

Mediastinal cysts are typically of bronchogenic, thymic or neurenteric origin, but may also represent oesophageal duplication. Posterior paravertebral mediastinal Müllerian cysts of undetermined pathogenesis are very rare occurrences. The first case of a ciliated cyst arising in the mediastinum, of probable Müllerian origin, was reported by Hattori in 2005, which gave rise to the name cyst of Hatorri (COH) The number of reported cases in literature of a similar nature have since then increased significantly. One of the main concerns about this pathology is the possibility of malignant transformation of the Müllerian tissue. Over the course of this paper we will discuss the pathogenesis, immunohistochemistry and its role in differential diagnosis as well as optimal treatment of such cysts.