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.

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.

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.

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.

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.

The Challenge of COVID-19: The Biological Characteristics and Outcomes in a Series of 130 Breast Cancer Patients Operated on During the Pandemic.

Background: The worldwide outbreak of the 2019 novel coronavirus disease (COVID-19) emerged in Wuhan, China close to the end of 2019. We analyse the clinical characteristics and management outcomes of a small group of patients who have been treated in the early stage of the COVID-19 disease, and discuss the impact of the pandemic on the service delivered to breast cancer patients. Material Methods: We analysed a cohort of 130 breast cancer patients who underwent elective surgical procedures during the early period of COVID-19. The patients were operated on in the period from March 16th, 2020 to May 18th, 2020. Results: All the patients were female, with an age range of 33-88 years, with a median age of 57.6 years. Most of the cases were admitted as a day case surgery after passing through a preoperative screening pathway, which was developed gradually. Patients were contacted by phone after their surgery to ensure that they have had no symptoms and were reviewed in person two weeks after the procedure with histology results. Only one patient developed COVID-19 symptoms after surgery and recovered. Conclusions: Early and careful implementation of modified practice policies during emerging situation of viral pandemics will reduce the risk of perioperative complications, reduce the risk of patient to staff to patient transmission and minimize the negative impact of COVID-19 on breast cancer management.

Breast Adenoid Cystic Carcinoma in a patient with Previous Contra-lateral Breast Ductal Carcinoma in-situ: A Case Report.

Breast adenoid cystic carcinoma (BACC) is a rarely encountered malignant breast neoplasm with a favourable outcome, despite its triple-negative receptor status. It is comprising less than 0.1% of all breast cancers. The more usual primary site of the adenoid cystic carcinoma is seen in the salivary glands, however BACC prognosis is better than the one for salivary gland and also than that of other breast invasive carcinoma. BACC also known to have fewer lymph node metastases as well as fewer distant metastases, hereby we present 73 years old female with previous history of breast ductal carcinoma in-situ, then developed contralateral breast adenoid cystic carcinoma.

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.

Breast Metastasis as a Presentation of Malignant Melanoma.

The majority of malignant breast lesions are primary tumors originated from breast tissue. These primary breast cancers usually metastasize to lymph nodes, lungs, bones and brain. Metastases from cancers of other organs to the breast are very rare, but have been encountered in patients with malignant melanoma, carcinoid tumors or lung carcinoma. The present paper reports a case of mammary metastasis from malignant melanoma.

Intraosseous angiolipoma of the cranium: case report.

OBJECTIVE: We describe an intraosseous angiolipoma of the cranium and discuss the outcome. Angiolipomas are benign tumors that consist of mature adipose tissue and abnormal vessels. They occur predominantly in the subcutaneous tissue of the trunk and upper limbs. Only 4 examples of intraosseous angiolipomas have been reported in the literature, all of which involved the mandible and ribs. CLINICAL PRESENTATION: A 39-year-old man presented with a right parietal swelling. The patient initially refused surgery; thus it was possible to follow this case for 11 years, allowing us to evaluate the natural history of this rare condition. INTERVENTION: Complete surgical excision of the intraosseous lesion was achieved with a titanium cranioplasty performed at intervals. Fifteen months after surgery, no recurrence was seen. CONCLUSION: This is the first known report of intraosseous angiolipoma of the cranium. Angiolipomas are rare, benign, slow-growing tumors with an excellent prognosis. On preoperative neuroimaging, they may mimic intraosseous angiomas, lipomas, or intraosseous meningiomas. Total resection is curative.