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Background: Oncotype-Dx (ODx) is a 21-gene assay used as a prognostic and predictive tool for hormone receptor (HR)-positive and human epidermal growth factor receptor 2 (HER2)-negative, node-negative, or 1 to 3 lymph node-positive early breast cancers (EBCs). The cost of the test, which is not available in low-middle income countries (LMICs), is not within the means of most individuals. The Ki-67 index is a marker of tumor proliferation that is cost-effective and easily performed and has been substituted in many cases to obtain prognostic information. Objective: We aimed to identify the correlation between the ODx recurrence score (RS) and the Ki-67 index in HR-positive EBCs and to determine whether Ki-67, like the ODx, can help facilitate clinical decision-making. Design: Systematic review correlating Ki-67 index and ODx in HR-positive and HER2-negative EBCs as per Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Data sources and methods: We searched different databases between January 2010 and May 2023 and included retrospective/prospective cohorts, clinical trials, case-control, and cross-sectional studies involving HR-positive and HER2-negative EBCs correlating the Ki-67 index and ODx RS categories. Results: Of the 18 studies included, 16 indicated a positive or weakly positive correlation between ODx and the Ki-67 index. The combined P value of the included studies is <0.05 (P = .000), which shows a statistical significance between the 2. Our review also discusses the potential of machine learning and artificial intelligence (AI) in Ki-67 assessment, offering a cost-effective and reproducible alternative. Conclusion: Even although there are limitations, studies indicate a favorable association between ODx and the Ki-67 index in specific situations. This implies that Ki-67 can offer important predictive details, especially regarding the likelihood of relapse in HR-positive EBC. This is particularly significant in LMICs where financial constraints often hinder the availability of costly diagnostic tests.
Comparing Ki-67 and Oncotype-Dx Tests for Predicting Early Breast Cancer Outcomes: A Comprehensive Review The study explored the correlation between the expensive Oncotype-Dx (ODx) test and the more affordable Ki-67 index in predicting outcomes for certain breast cancers. Results from 16 out of 18 studies indicated a significant link between the 2 tests, suggesting Ki-67 could be a cost-effective alternative, especially in low- to middle-income countries.
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BACKGROUND: Rectal cancer treatment has transformed in recent years, with neoadjuvant treatment (NT) and total neoadjuvant treatment (TNT) aiming to enhance pathological responses. This pioneering study in our country delves into rectal cancer management, offering crucial insights by examining pathological outcomes in patients treated with the NT and TNT approach, shaping the evolving landscape. METHODS: In this retrospective-cohort study spanning January 2017 to December 2022 at a tertiary care hospital in Pakistan, ethical approval was obtained to examine outcomes of two treatments. Patients were divided into TNT (chemoradiation and pre-surgery 5 FU-based chemotherapy) and NT (chemoradiation, surgery, and subsequent 5 FU-based chemotherapy). The primary end-point was response rates-no response, pathological complete response (pCR), near complete response (near CR), and partial response (PR). The Chi-Square Test for Independence assessed the association between treatment response and type (TNT or NT). Data analysis used STATA MP 64; significance was set at p < 0.05 for all two-tailed tests. RESULTS: We analyzed 77 patients, 60 underwent standard neoadjuvant chemoradiation, and 17 followed the total neoadjuvant approach. Predominantly male, most were > 65 with ECOG 0-1. The TNT group showed higher response rates (76% vs 62%, p = 0.039), with 40.38% achieving pCR. In the overall population, pCR and near-CR were similar (27.2% vs 26%), while PR were 14%. Treatment characteristics correlated significantly with chemotherapy type, concurrent chemoradiation, LVI, PNI, and T, N, M staging (p < 0.05). Median overall survival was not reached, and mean survival was 89.1 months (CI: 95.0 to 83.3). Side effects varied, with notable differences in neuropathy, diarrhea, oral mucositis, and thrombocytopenia between NT and TNT groups. CONCLUSION: Our study adds to evidence favoring neoadjuvant approaches in managing rectal cancer in pakistan. Demonstrating a favorable pcr rate, ongoing research with extended follow-up is essential, given the dynamic landscape of rectal cancer treatment for improved patient outcomes.
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Neoadjuvant Therapy , Rectal Neoplasms , Humans , Male , Female , Tertiary Care Centers , Retrospective Studies , Pakistan , Cohort Studies , Neoplasm Staging , Rectal Neoplasms/pathology , Treatment Outcome , Chemoradiotherapy , FluorouracilABSTRACT
Hemophagocytic Lymphohistiocytosis is an inflammatory condition which results in over activation of the immune system. It could be either sporadic or familial. The familial subtype is linked with various genetic mutations and is commonly a disease of the young. Here we report a case of HLH in an adult, occurring in the background of a successfully treated hematological malignancy. Upon workup, he was also found to have pathogenic STXBP2 mutation, suggesting HLH of familial origin. To date, only few cases of adult-onset familial HLH have been brought to light.
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Background: Anal cancers are uncommon neoplasms that make up to <1% of all tumours globally. Concurrent chemoradiation remains the standard of care treatment for patients who present with non-metastatic anal squamous cell carcinomas (ASCCs). Methods: We aimed to evaluate the response rate and 2-year survival outcome of the definitive chemoradiation approach in patients with non-metastatic ASCCs of our population. We conducted a cross-sectional review of these patient populations who were treated and then followed after completion of treatment at our institute during the last 10 years. Results: A total of 17 patients were enrolled after fulfillment of the eligibility criteria. The responses were documented in 16 patients through magnetic resonance imaging or computed tomography of the pelvis, done at 3 months of treatment completion. More than 80% of the patients had complete radiological responses. Among the surviving participants, the 2-year disease-free survival rate was found to be more than two-thirds. Approximately 20% of the study participants had disease recurrence during the subsequent clinic visits following treatment completion. Conclusion: This review emphasises the impact of definitive chemo-radiation in achieving radiological and clinical responses in patients with non-metastatic ASCCs. Moreover, to our knowledge, this is the first review to highlight anal cancer's incidence and characteristics in Pakistan.
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Malignant melanoma is a neoplasm of melanin-producing cells predominantly of cutaneous origin, which uncommonly develops within gut mucosa. We present the case of a 58-year-old woman with complaints of abdominal pain, loss of appetite and weight. Esophagogastroduodenoscopy revealed a gastric mass and systemic imaging demonstrated widespread nodal and bilateral adrenal gland involvement. Histopathology of the gastric mass confirmed primary malignant mucosal melanoma of the stomach. The patient received three cycles of Nivolumab but did not respond, and thus, was then offered best supportive care. Although infrequent, mucosal melanoma can arise from the gastrointestinal tract, and in contrast to the cutaneous form, advanced disease usually has a dismal prognosis and responds poorly to immune checkpoint inhibitors. Primary gastric melanoma is an aggressive disease that is diagnosed by exclusion after the differential diagnosis of metastasis from a cutaneous or unknown primary site has been conducted. If available, patients with treatment-naïve mucosal melanoma should be considered for enrollment in clinical trials.
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Melanoma , Skin Neoplasms , Stomach Neoplasms , Female , Humans , Middle Aged , Melanoma/diagnosis , Stomach Neoplasms/diagnosis , Abdominal Pain , Diagnosis, DifferentialABSTRACT
INTRODUCTION: Fumarate Hydratase-deficient-renal cell carcinoma (FH-dRCC) is an uncommon and extremely aggressive variant of renal cell carcinoma (RCC) resulting from inactivating mutations in the tumor suppressor gene, fumarate hydratase (FH). CASE PRESENTATION: We report a case of a young male who presented with the complaint of painless hematuria. Upon workup, he was found to have a renal mass with bony metastases. The histopathology was consistent with renal cell carcinoma with features of FH-deficient variant. Germline testing showed a pathogenic mutation in the FH gene. He was started on a treatment combination of Pembrolizumab and Axitinib along with Zoledronate for bone metastasis. His response to the combination therapy was short with early progression of disease. He was switched to a second-line treatment Bevacizumab and Erlotinib, which achieved significant disease response. DISCUSSION: Systemic therapy is the mainstay of treatment for metastatic disease. Although the novel agents approved for other subsets of RCC have been used, the responses are grim. There is no consensus on the sequence of further lines of treatment for FH-dRCC and is based on the physician's choice, availability of the drugs, cost, toxicity, and tolerance of the patient. CONCLUSION: This case report emphasizes the occurrence, presentation, management and prognosis of FH-dRCC, which is an aggressive entity, presenting at a young age with early distant metastases, not diagnosed appropriately due to its poorly characterized cytologic features. Being an infrequent neoplasm, it is an area that warrants oncological exploration to improve outcomes in these individuals. The combination of Erlotinib and Bevacizumab provides promising outcomes in terms of progression-free survival.
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INTRODUCTION AND IMPORTANCE: Primary malignant melanoma of the head and neck region is an exceptionally unique neoplasm that accounts for 1 % of all mucosal melanomas diagnosed worldwide. Most patients are either symptomless or have vague symptoms. CASE PRESENTATION: In this report, we describe the case of a young female, who presented at a tertiary care institute in Pakistan, with a history of recurrent ipsilateral mucosal neoplasm arising in the nasal cavity. The patient was treated with surgical resection twice and was subsequently found to have widespread metastatic lymph nodes on workup. CLINICAL DISCUSSION: Malignant mucosal melanoma seldom originates from the nasal cavity. Surgical resection is the best chance of cure for localized nasal melanomas whereas for metastatic disease, systemic therapy with either chemotherapy or biologic agents is the mainstay of management. CONCLUSION: Approximately 5 % of the cases of mucosal melanoma have metastatic disease at presentation. This report highlights the presentation, clinical characteristics, management, and prognosis of non-cutaneous melanoma, arising within the head and neck region.
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An intraductal papillary neoplasm involving the biliary tree is an unusual premalignant condition of epithelial origin, identified by its cystic dilatation of the biliary channels. Being a slow-growing tumor, surgery offers the best curative rate, especially in the setting of a low-grade disease. Here, we present a case of a localized, low-grade, intraductal papillary neoplasm of the bile duct (IPNB), residing in the liver, which was treated with resection of the liver lobe. The adjuvant treatment and prognosis highly depend upon the presence of dysplasia or a co-existent invasive malignancy. To the best of our knowledge, being a rare entity, this is the first case to be reported from Pakistan.
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INTRODUCTION: Muco-epidermoid carcinomas are primarily the subtypes of salivary gland tumors that can rarely originate within the respiratory tract. Our case highlights the occurrence of an unusual, localized, endo-bronchial muco-epidermoid cancer. We aim to strengthen the evidence of occurrence of this distinct variety of lung cancer in our country as little is known about this rare subclass of lung cancer. CASE PRESENTATION: We report a case of a 22-year-old female patient, belonging to Karachi, Pakistan, who presented with respiratory symptoms and upon work-up, was diagnosed with a low-grade, localized muco-epidermoid carcinoma of the lung. She underwent surgical resection successfully and was advised to get evaluated for adjuvant radiotherapy. CLINICAL DISCUSSION: Localized low-grade MEC respond well to surgical resection in contrast to high-grade MEC which is associated with poor prognosis thus requiring adjuvant radiotherapy to improve survival outcomes. CONCLUSION: Lung cancers can be unusually of muco-epidermoid origin. It has been uncommonly found in the world including Pakistan. Special attention with validated data is therefore needed, for developing guidelines for the optimal management of such neoplasms.
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INTRODUCTION: Adenoid cystic carcinoma is a neoplasm that is commonly of salivary gland origin. It could infrequently arise from other tissues such as breast in which case it behaves favorably despite belonging to triple-negative breast cancer subgroup. CASE PRESENTATION: We report a case of a 49-year-old female patient, who presented with right breast pain and upon work-up, was diagnosed with early-stage adenoid cystic carcinoma of the breast. She underwent breast conservation successfully and was advised to get evaluated for adjuvant radiotherapy. The work has been reported in line with the SCARE criteria (Agha et al., 2020). CLINICAL DISCUSSION: Breast adenoid cystic carcinoma (BACC) is a rare distinct salivary gland-like carcinoma of the breast with similar morphological features to those seen in salivary gland adenoid cystic carcinoma. Surgical resection is the standard mode of treatment in BACC. The role of adjuvant chemotherapy has not proven beneficial in the management of BACC, owing to the similar survival rates seen in patients with and without chemotherapy. CONCLUSION: Localized breast adenoid cystic carcinoma (BACC) is an indolent disease having optimal response to surgical resection alone and thus can omit adjuvant radiotherapy and chemotherapy when completely excised. Our case is unique as BACC is a rare clinical variant of breast cancer with a very low incidence rate.
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INTRODUCTION AND IMPORTANCE: The neoplasms of the testis are sporadic tumors among men. Furthermore, the rarest subset of these is neoplasms belonging to the stromal tumors of the sex cord. Leydig cell tumors are the most common form among the testicular stromal tumors. In our case, the underlying risk factor associated with the development of Leydig cell tumors was cryptorchidism. While mostly unilateral, cases of bilateral cryptorchidism may be present and have been rarely reported. CASE PRESENTATION: We report a 36-year-old gentleman who presented to us with the inability to carry off intercourse without difficulty attaining erection on stimulation for the past two years. He had a history of left undescended testis since birth, for which he underwent left orchidopexy 20 years ago. An ultrasound of the pelvis showed an oval hypoechoic-shaped heterogeneous mass in the right mid-inguinal canal. Relevant blood investigations showed a deranged hormonal profile. He then underwent an uneventful right radical orchiectomy, histopathology of which was consistent with Leydig cell tumor. CLINICAL DISCUSSION: LCT with a history of bilateral cryptorchidism has rarely been reported. This case highlights its clinical presentation, management, and further follow-up in such patients. CONCLUSION: Bilateral congenital cryptorchidism may be associated with Leydig cell tumor years later in life hence long-term follow-up is required for these patients. The clinical presentation of these tumors may vary among individuals. Any change in physical appearance, hormonal assay, and imaging studies should promptly be followed for possible surgical resection and close monitoring.