Very rare tumour of the palatine tonsil: a molecular approach.

Mucoepidermoid cancer (MEC) is extremely rare in the palatine tonsil with only three adequately described cases in the literature.We describe a woman in her late 70s with vague pharyngeal discomfort who underwent tonsillectomy, lymph node dissection of the neck and radiotherapy for MEC with loco-regional lymph node metastasis of the palatine tonsil. To confirm this extremely rare diagnosis and to gain deeper insight in the molecular oncogenesis, an extensive molecular study including next-generation sequencing and immunohistochemistry was performed. Immunoreactivity for p16 protein and real-time PCR showed high-risk oncogenic human papillomavirus 16 DNA and mutations in the BRAF, BARD and DNMT3A genes. Tumour mutational burden was low. After a follow-up of 7 years the patient is still alive and well without any residual or disseminated disease.

Multi-Focal Splenic Tumour in a Belgian Patient and a Brief Review of the Literature on Littoral Cell Angioma.

We describe the case of a 66-year-old woman with littoral cell angioma (LCA) confirmed by histopathology and immunohistochemistry, to our knowledge the first case in Belgium. LCA is an extremely rare primary vascular tumour of the splenic red pulp, probably originating from littoral cells. If a splenic mass and nodules are incidentally identified on imaging and the patient has no associated signs or symptoms, LCA should be suspected. Histopathology and adjacent techniques are mandatory for definitive diagnosis. Splenectomy followed by adequate follow-up is necessary to exclude underlying pathology. LEARNING POINTS: Littoral cell tumour, although a very rare neoplasm, must be included in the differential diagnosis of splenic lesions observed by imaging.As imaging cannot differentiate between benign and malignant lesions, a definitive diagnosis is made only by histopathology and immunohistochemistry.Individuals diagnosed with littoral cell angioma must be carefully evaluated to exclude associated primary, secondary and synchronous malignancies as well as accompanying inflammatory/autoimmune disease.

Double Trouble: A Case Series on Concomitant Genetic Aberrations in NSCLC.

Several oncogenic drivers have been identified in non-small cell lung cancer. Targeted therapies for these aberrations have already been successfully developed and implemented in clinical practice. Owing to improved sensitivity in genetic testing, more and more tumors with multiple driver mutations are identified, resulting in dilemmas for treating physicians whether and which targeted therapy to use. In this case series, we provide an overview of patients with intrinsic double mutations in oncogenic drivers and their reported response to targeted therapies, with a focus on epidermal growth factor receptor, anaplastic lymphoma kinase, cMET, and Kirsten rat sarcoma viral oncogene. We also include an unpublished case report on a patient with an epidermal growth factor receptor L858R and cMET exon 14 skipping.

Human papillomavirus and p53 polymorphism in Lithuanian cervical cancer patients.

BACKGROUND: Cervical cancer is the fourth most common cancer for women in Lithuania. One of the important cervical cancer risk factors is human papillomavirus (HPV) infection. Recent literature has considered p53 allelic polymorphism to be a putative predisposing factor for cervical carcinoma development. OBJECTIVE: The aim of this study was to elucidate the prevalence of HPV, especially HPV 16, in cervical cancer patients and in healthy women, to investigate the distribution of p53 gene 72 codon polymorphism and to correlate these to cervical cancer risk in Lithuanian women. METHODS: 588 women were included in the study: 212 women with primary diagnosed cervical cancer (case group) and 376 healthy volunteers (control group). RESULTS: A high prevalence of HPV DNA was detected in cervical cancer patients, 92.0%, and in control women, 23.6% (P < 0.0001). HPV 16 is the most frequent HPV type in cervical cancer patients. In the case of squamous cell carcinoma, this type was detected in 55.8%, in adenocarcinoma - 35.3%. In the control group, this type was detected in 19.0%. A statistically significant difference in the distribution of p53 alleles between the case and the control groups was found. CONCLUSIONS: Cervical cancer risk in Lithuanian patients is associated with HPV infection (OR = 75.39; 95% CI 33.61-192.98), especially HPV 16 type (OR = 100.3; 95% CI 46.05-238.59) and p53 homozygous Arg/Arg allele (OR = 2.10; 95% CI 1.10-4.19).