RESUMEN

The global incidence of lung cancer among women is rising. By 2030, lung cancer in women is expected to increase by 43%. The factors thought to predispose women to lung cancer are exposure second hand smoke, air pollution and biofuels used for cooking. Our objectives was to study the clinical and pathological features of lung cancer in women. Material: A retrospective review of medical records of women with lung cancer who attended Amrita institute of medical sciences, Kochi, between 2015-2019 was done. Data was collected using our institution's Electronic medical records (EMR). Demographic details and clinicopathologic features were extracted from the EMR manually. Data was tabulated using Microsoft Excel. Categorical variables were expressed as frequencies and percentages., Observation :Out of the 1683 lung cancer cases seen during 2015-2019, 389 (23.1%) were females. 250 patients for whom complete data was available was included in this study. Majority of the women were above 50 years old (N= 216, 86.4%). The median age of diagnosis was 64 years (range 33- 95 years). 14 patients (5.0%) had history of pulmonary tuberculosis. The median duration of symptoms was 8.7 weeks (IQR 4.3 -13). Cough (N=173, 69.2%), dyspnoea (N=117, 46.8%) and chest pain (N = 105, 42%) were the most common symptoms. Data regarding the use of cooking medium used (biofuel/LPG) was available only in 107 patients. 15/107 (14%) patients were using biofuels for cooking. 75.2% of them presented in advanced stages (Stage IV N=188). The most common sites of metastasis were bone (N=88, 35.2 %), lung (N = 55, 22%), lymph nodes (N=55, 22%) brain (N= 38, N= 15.2%), liver (N=32, 12.8%) and adrenal gland (N=31, 12.4%). 113 patients had one and 77 patients had multiple metastatic sites. The site of primary tumour was-right upper lobe N=67 (26.8%), Right middle lobe N =11 (4.4 %%), Right Lower lobe N=46 (18.4%), Left upper lobe N=65 (25%) and left lower lobe N=52(20.8%). Adenocarcinoma was the predominant histological type (N=224, 89.6%) followed by squamous cell carcinoma (N=12, 4.8%). Actionable mutations observed were EGFR in 44% and ALK 2% and BRAF 1.2%. Conclusion: Male to female ratio in our study (4.3:1) was higher compared to the lung cancer demographics from other states in India. This finding along with rising global incidence warrants special attention and screening for women with suspicious symptoms. The incidence of EGFR mutation was also high (44%) compared to other studies from India.

Asunto(s)

Adenocarcinoma , Carcinoma de Células Escamosas , Neoplasias Pulmonares , Adulto , Anciano , Anciano de 80 o más Años , Biocombustibles , Carcinoma de Células Escamosas/patología , Receptores ErbB , Femenino , Humanos , Neoplasias Pulmonares/epidemiología , Neoplasias Pulmonares/patología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos

RESUMEN

Von Hippel-Lindau disease is an autosomal dominant disorder characterised by renal cell carcinomas, pancreatic neuroendocrine tumours, central nervous system hemangioblastomas, retinoblastomas, and tumours of the reproductive tract. This disease results from loss of function mutations in the tumour suppressor gene known as the Von Hippel-Lindau gene, located on chromosome 3. Loss of function mutation in the Von Hippel-Lindau gene results in the accumulation of a protein known as a hypoxia-inducible factor, which promotes cellular proliferation and angiogenesis, leading to cancer. Belzutifan inhibits the hypoxia-inducible factor by binding to the Per-ARNT -Sim-B binding pocket on the hypoxia-inducible factor -2α, inhibiting cellular proliferation and angiogenesis. In our thorough literature review, we identified 37 relevant articles. Belzutifan showed clinically meaningful response rates for both Von Hippel-Lindau disease-associated renal cell carcinomas and non-renal cell cancers. The pharmacokinetic profile of belzutifan was much better than its congener molecules due to the optimisation of its dihalide groups from germinal to vicinal. The pharmacodynamic effect of belzutifan was confirmed by its ability to decrease serum erythropoietin, which is a direct result of hypoxia-inducible factor- 2α inhibition. The significant side effects observed were anaemia, hypoxia, fatigue, hypertension, visual impairment and weight gain. Multiple clinical trials are currently underway to determine the role of beluztifan as part of combination regimens in treating Von Hippel-Lindau diseaseassociated malignancies.

Asunto(s)

Carcinoma de Células Renales , Neoplasias Renales , Enfermedad de von Hippel-Lindau , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/metabolismo , Humanos , Hipoxia , Neoplasias Renales/genética , Neoplasias Renales/metabolismo , Neovascularización Patológica , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genética , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/metabolismo , Enfermedad de von Hippel-Lindau/tratamiento farmacológico , Enfermedad de von Hippel-Lindau/genética

RESUMEN

Fanconi anaemia is a rare autosomal recessive disorder associated with bone marrow failure and congenital malformations. The impaired DNA repair pathways in Fanconi anaemia predispose patients to a high risk of cancers of squamous cell origin, particularly in the head and neck region. Cancers of the vagina and vulva are rare in Fanconi anaemia. Here, we report a case of a 44-year-old female with Fanconi anaemia who developed an ulcerated lesion on the clitoris that extended into the labia majora. A biopsy of the lesion showed well-differentiated squamous cell carcinoma. The patient was treated with wide local excision of the vulval lesion. The patient developed neutropenia post-procedure but recovered in one week time. We have followed up the patient regularly since the procedure. No further issues have been detected to date.