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.

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.

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.

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.

A Carotid Body Tumour Mimicking Richter's Transformation of Chronic Lymphocytic Leukaemia.

Carotid body tumours (CBT), also called carotid paragangliomas, are highly vascular glomus tumours that originate from paraganglionic cells of the carotid body. They are frequently asymptomatic, insidious, and non-secretory in nature. They typically present as a large, non-tender, pulsatile neck mass. Careful evaluation of a neck mass, with the aid of imaging, is necessary to avoid a misdiagnosis. We herein describe a case of a 77-year-old gentleman with a background of chronic B-cell lymphocytic leukaemia, who was found to have a rapidly enlarging, asymptomatic neck mass along with multiple enlarged lymph nodes in the axillae. Given his past medical history, the preliminary diagnosis was Richter's transformation. However, the characteristic splaying of the internal and external carotid arteries on imaging prompted us to consider the diagnosis of a CBT. The patient was referred to vascular surgeons for surgical excision of the tumour. Histology confirmed that the neck mass was indeed a CBT. Ultrasound-guided core biopsy of the axillary lymph nodes revealed a concomitant Hodgkin-like Richter's transformation. This case exemplifies how we were able to differentiate between a CBT and nodal mass with the aid of various imaging modalities. An accurate diagnosis allows clinicians to deliver the appropriate management; the treatment for CBT is surgical excision, whereas chemotherapy is the first-line treatment for Richter's transformation.

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.

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.