Journal of cancer & allied specialties最新文献

Introduction: The primary objective of this study was to evaluate the baseline characteristics of Lynch syndrome (LS). Furthermore, the study aimed to evaluate overall survival (OS) among patients with LS.

Materials and methods: This was a retrospective study of colorectal cancer patients registered from January 2010 to August 2020 with an immunohistochemical diagnosis of LS.

Results: A total of 42 patients were assessed. The mean age at presentation was 44 years, with male predominance (78%). Demographic preponderance was from the North of Pakistan (52.4%). The family history was positive in 32 (76.2%) patients. The colonic cancer distribution was 32 (76.2%) on the right side. Most of the patients presented with Stage II disease (52.4%), and the common mutations were MLH1 + PMS2 16 (38.1%) followed by MSH2 + MSH6 9 (21.4%). The 10-year OS was found to be 88.1%. However, the OS was 100% post pancolectomy.

Conclusion: LS is prevalent in the Pakistan population, especially in the North of Pakistan. Clinical presentation and survivals are similar to the Western population.

Introduction: Tumour-emitted molecules induce immunosuppression in the tumour microenvironment. An immunosuppressive enzyme, indoleamine 2,3-dioxygenase (IDO/IDO1), facilitates immune escape in several malignant tumours, including osteosarcoma. Upregulation of IDO establishes a tolerogenic environment in the tumour and the tumour-draining lymph nodes. IDO-induced downregulation of effector T-cells and upregulation of local regulatory T-cells creates immunosuppression and promotes metastasis.

Observations: Osteosarcoma is the most common bone tumour characterised by immature bone formation by the tumour cells. Almost 20% of osteosarcoma patients present with pulmonary metastasis at the time of diagnosis. The improvement in therapeutic modalities for osteosarcoma has been in a stagnant phase for two decades. Therefore, the development of novel immunotherapeutic targets for osteosarcoma is emergent. High IDO expression is associated with metastasis and poor prognosis in osteosarcoma patients.

Conclusion and relevance: At present, only a few studies are available describing IDO's role in osteosarcoma. This review describes the prospects of IDO not only as a prognostic marker but also as an immunotherapeutic target for osteosarcoma.

Introduction: The Punjab Cancer Registry's catchment area includes the districts of Faisalabad and Nankana Sahib. It is an observational and descriptive study that covers the 3 years from 2017 to 2019, evaluating the distribution of cancer in these two districts.

Material and methods: Data on incident cancer cases diagnosed between 2017 and 2019 among residents of Faisalabad and Nankana Sahib in Pakistan, reported by the participating centres of the Registry, were reviewed retrospectively. Figures and proportions for adults, children and adolescents were computed.

Results: During 2017 and 2019, 5678 cases were reported from Faisalabad and 390 from Nankana Sahib, with over 50% seen in females. In both districts combined, among adult females, cancers of the breast, reproductive system, and hepatobiliary system were commonly diagnosed, while cancer of the lip/oral cavity/pharynx, hepatobiliary system and non-Hodgkin lymphoma were the leading diagnoses among adult males. In children and young adults (0-19 years), acute lymphoblastic leukaemia, Hodgkin lymphoma and non-Hodgkin lymphoma were the most common diagnoses.

Conclusion: The cancer distribution reported from Faisalabad and Nankana Sahib is of utmost importance. However, the underreporting of cancer cases cannot be ruled out. More input from the collaborators is needed to ensure the completeness of cancer surveillance in the region.

Introduction: Molecular genetic abnormalities in acute myeloid leukaemia (AML) are essential for disease diagnosis and determining prognosis and clinical course. Mutations in FLT3 and nucleophosmin (NPM) genes are the most frequent genetic abnormalities, which are also known to impact disease outcomes. FLT3 mutations have been identified in approximately 30% of de novo AML patients and are associated with poor prognoses. This study aimed to determine the response to induction chemotherapy, overall survival (OS) and relapse rate (RR) in patients with FLT3-positive AML.

Materials and methods: In this study, a retrospective analysis was performed of 75 newly diagnosed patients with AML registered between January 2015 and July 2022. Patient demographics and clinical-haematological parameters were noted and molecular analysis for FLT3 ITD/TKD and NPM mutations was performed. All the patients received standard induction chemotherapy and their response to treatment, OS and RR were assessed.

Results: A total of 75 cases of AML were analysed. The mean age of the sample was 34.9 years, of which 65.3% were males and 34.7% were females. The patients were stratified into two groups: Those who were positive for FLT3 while negative for NPM (FLT3+/NPM-), representing 17.3% and those who were negative for both FLT3 and NPM (FLT3-/NPM-), representing 82.7% of cases. On day 28 post-induction, the complete remission rate was 69.2% in the FLT3 positive group and 77.4% in the FLT3 negative group. In the FLT3+/NPM- group, 55.6% of cases who were in remission at day 28 subsequently relapsed, compared to 50.0% of FLT3-/NPM- cases. The overall median survival time for the cohort and FLT3+ group was 1467 days, while that of the FLT3-group could not be estimated due to the very high survival rate.

Conclusion: No significant differences in outcomes were observed in patients who were FLT3 positive compared to those who were FLT3 negative.

Introduction: Several risk factors have been identified in the occurrence of bladder cancer. These include genetic and hereditary factors, smoking and tobacco use, increased body mass index, occupational exposure to certain chemicals and dyes, medical conditions such as chronic cystitis and infectious diseases such as schistosomiasis. This study aimed to evaluate risk factors in patients with bladder cancer.

Materials and methods: All patients presenting to the uro-oncology department of the hospital with imaging and histology confirmed bladder cancer were included in the study. Age- and gender-matched patients presenting to the department of urology with benign disorders were prospectively included as controls. All the study subjects and the controls completed a self-administered structured questionnaire.

Results: Seventy-two (67.3%) of the participants with bladder cancer were males. The mean age of participants with bladder cancer was 59.24 ± 16.28 years. Most participants with bladder cancer worked as farmers (35.5%) or industrial workers (24.3%). Recent history of recurrent urinary tract infections was seen in 85 (79.4%) of the participants with bladder cancer and 32 (30.8%) of controls. Diabetes mellitus was more common among participants with bladder cancer. A significant number of participants with bladder cancer used tobacco and smoked compared to controls.

Conclusions: This study highlights numerous potential biological and epidemiological factors that may act as a risk factors for bladder cancer. These factors could explain the gender differences observed in the incidence of bladder cancer. In addition, the study indicates the intense risk of tobacco products and smoking on the incidence of bladder cancer.

Introduction: Trigeminal neuralgia (TN) is characterised by recurrent paroxysmal brief episodes of electric shock-like pain along the trigeminal nerve distribution. Based on the underlying cause, the current classification systems have classified TN into idiopathic, classical and secondary TN. This manuscript presents a case report of a patient seen in the clinic with features of TN secondary to an intracranial lesion.

Case description: A 39-year-old female presented to the clinic with a 15-month history of severe, intermittent, short-lasting episodes of pain affecting the left lower teeth, jaw, nose and temporal region. The patient reported familiar shock-like pain during the physical examination when the skin of the left ala of the nose was lightly touched. The rest of the clinical examination was non-significant. The magnetic resonance imaging (MRI) of the brain showed an approximately 20 mm wide lesion at the level of the left cerebellopontine angle. After subsequent tests, the lesion was diagnosed as meningioma, and the patient was treated with stereotactic radiation therapy.

Practical implications: In up to 10% of TN cases, the underlying cause can be due to a brain tumour. Although persistent pain, sensory or motor nerve dysfunction, gait disturbances and other neurological signs may concurrently exist, raising a red flag for intracranial pathology, patients often present with pain alone as the heralding symptom of a brain tumour. Due to this, it is imperative that all patients suspected of having TN undergo an MRI of the brain as part of the diagnostic work-up.

Introduction: Asian developing countries share the burden of colorectal cancer (CRC) with rising mortality rates. This prospective study aims to apprehend the clinical relevance of age, gender, lifestyle choices (dietary habits and addiction) and body mass index (BMI) to the occurrence and progression of colon cancer (CC).

Methods: A cohort of non-cancer (NC) and CC patients of South-Central Asian origin registered for screening colonoscopy or surgery at Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH and RC), Lahore, Pakistan, from 2015 to 2020 was identified. BMI (Kg/m²) was classified according to the World Health Organization criteria as underweight (<18.5 Kg/m²), normal weight (18.5-24.9 Kg/m²) and overweight (≥25 Kg/m²).

Results: Among 236 participants, 99 (41.9%) belonged to the NC group, and 137 (58.1 %) participants had CC Overall, participants included 74 women and 162 men aged 20-85 years (mean ± SD; 49.9 ± 14.9). Notably, 46.0% of cancer patients had a family history of cancer. There was a direct relationship between CC with abnormal BMI (underweight and overweight), positive smoking history and positive family history of cancer.

Conclusion: Being underweight or overweight is a potential risk factor for CC patients. The overall survival in patients with CC is clinically associated with lifestyle choices before CC diagnosis. A balanced diet, walking and other forms of exercise should be strongly recommended to the community and those undergoing screening colonoscopy.

Introduction: Primary lymphomas of the prostate are globally rare, representing <0.1% of all prostatic neoplasms. Their rarity and non-specific symptomatology at presentation usually prompt a clinical diagnosis of benign prostatic hyperplasia or chronic prostatitis, leading to significant delay in diagnosis.

Case description: A 32-year-old man presented to our clinic with complaints of difficult urination and perineal pain. An enlarged, hard and nodular prostate was palpable on digital rectal examination. Needle biopsy of the prostate was performed, which revealed diffuse large B-cell non-Hodgkin's lymphoma by immunohistochemical studies. Computed tomography (CT) scan showed a large pelvic mass arising from prostate encasing ureters with bilateral hydronephroureter. No abnormal finding was seen on abdominal CT scan and bone marrow biopsy. Therefore, the disease was classified into the clinical stage IAXE according to the Ann Arbor's criteria. The patient achieved complete response to six cycles of rituximab plus cyclophosphamide, doxorubicin, vincristine and prednisone chemotherapy with the central nervous system prophylaxis. He remained disease free, until 36 months after the end of chemotherapy.

Practical implications: According to the literature, the treatment and prognosis of primary lymphoma of the prostate are the same as that of other nodal lymphomas. The rituximab-based regimen should be considered in the management of prostatic diffuse large B-cell lymphoma.

Introduction: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive disease carrying an increased risk of cancers (paediatric tumours of central nervous system, haematolymphoid malignancies along with gastrointestinal (GI) cancer(s), which are usually seen in the second and third decades), leading to syndromic presentation. Causal mutations are detected in DNA mismatch repair (MMR) genes, including MLH1, PMS2, MSH2 and MSH6 that are also known for their established role in Lynch syndrome. We describe a case of CMMRD with an earlier (first decade of life) presentation of mediastinal acute lymphoblastic lymphoma and colorectal malignancy.

Case presentation: A 5-year-old boy presented with respiratory complaints, bilateral cervical lymphadenopathy, multiple café-au-lait macules (CALMs) on the lower back and history of parental consanguinity with the death of three sisters due to brain tumour within 6 months of diagnosis. Computerised tomographic scan chest revealed a huge mediastinal mass. The patient underwent a trucut biopsy of the mass. The results were significant for a pre-T-cell acute lymphoblastic lymphoma. Suspicion of CMMRD was raised based on a combination of factors described above. A panel of MMR proteins was applied on the biopsy tissue that revealed loss of nuclear expression of MLH1 and PMS2 immunostaining in tumour cells with positive external controls. While on maintenance therapy for lymphoma, about a year later, the patient developed subacute intestinal obstruction due to a stenosing polypoidal circumferential tumour in the mid-sigmoid colon found on flexible sigmoidoscopy that was followed by endoscopic biopsies and insertion of a fully covered self-expanding metallic adult biliary stent with a diameter of 10 mm and length of 6 cm leading to immediate relief of obstruction. Biopsies revealed adenocarcinoma with neuroendocrine differentiation. Metastatic tumour deposits were seen in the omentum, anterior abdominal wall and the left peritoneal wall.

Practical implications: Earlier (first decade) presentation of GI malignancy warrants that an earlier screening through radiological scans for any possible tumours and MMR protein expression analysis (loss in tumour plus normal non-tumour cells) are essential in patients having CALMs and family history of paediatric tumours.

Introduction: Breast lymphoma (BL) is a rare breast tumour and accounts for <1% of all breast malignancies. It is further categorised into primary BL and secondary BL. This manuscript presents a case report of a patient diagnosed with secondary BL.

Case description: A 51-year-old female presented in the one-stop breast clinic with 6-month history of having a static and painless left breast lump. Mass was firm, non-tender and 2 cm in size. It was not adherent to skin or muscle and it was present in the upper outer quadrant of the left breast. Mammo-sonography revealed a circumscribed mass of 17 mm in the outer quadrant of the left breast. There were enlarged ipsilateral lymph nodes. Core biopsy suggested atypical lymphoid infiltrates. She underwent wide local excision of breast and axillary nodal mass. The definitive histological diagnosis revealed non-Hodgkin's follicular lymphoma grade 2/3. Staging computed tomography scan features were suggestive of cervical lymphadenopathy. Hence, staging workup proved this to be a case of secondary BL.

Practical implication: The early diagnosis of BL is highly relevant. Its diagnosis is challenging due to non-specific clinical presentation and imaging features. Commonly FL is diagnosed on excisional biopsy or after wide local breast mass excision. Primary and secondary lymphomas, though rare, should be considered in the differential diagnosis of breast malignancies.