Multiple genetic copy number alterations in oral squamous cell carcinoma: study of MYC, TP53, CCDN1, EGFR and ERBB2 status in primary and metastatic tumours.

BACKGROUND: Oncogenesis in the oral cavity is believed to result from genetic alterations that cause a stepwise transformation of the mucosa to invasive carcinoma. In oral squamous cell carcinoma (OSCC) multiple cytogenetic abnormalities have been reported, but their practical significance remains uncertain. OBJECTIVE: To evaluate the usefulness of the assessment of CCND1, MYC, EGFR, ERBB2 and TP53 in OSCC and lymph node metastases. METHODS: Fifty-one consecutive samples of OSCC, nine lymph node biopsies showing metastatic spread from OSCC, 16 biopsies diagnosed as oral leucoplakia (OLK), 13 samples corresponding to oral lichen planus (OLP) and 14 samples from normal oral mucosa were included in the study. Clinical and histopathological characteristics were reviewed. The genetic and protein status of the CCND1, MYC, EGFR, ERBB2 oncogenes and the TP53 tumour suppressor gene were assessed by fluorescence in situ hybridization (FISH) and immunohistochemistry (IHC). The obtained results were compared with the clinical characteristics and the outcome of the OSCCs. RESULTS: TP53 gene losses and MYC, ERBB2, CCND1 and EGFR copy number gains and amplifications were detected in a higher proportion in OSCC and lymph node samples than in OLK and OLP samples (P < 0·005). Overexpression of p53, Myc, Cyclin D1, c-erbB-2 and epidermal growth factor receptor (EGFR) was more prevalent in malignant samples than benign samples (P < 0·05). Correlation between FISH and IHC results was demonstrated in MYC, EGFR and CCND1 studies. The presence of two or more genetic abnormalities in the studied loci was exclusively detected in primary and metastatic OSCC. CONCLUSIONS: In our series, genetic abnormalities in TP53, MYC, CCND1, ERBB2 and EGFR detected by FISH were absent in inflammatory lesions, infrequent in precursor lesions and common in tumoral lesions. Evaluation of the genetic status of TP53, MYC, CCND1, ERBB2 and EGFR may be an additional diagnostic tool in distinguishing benign from malignant oral lesions in histopathologically challenging cases.

[Primary hyperparathyroidism in childhood: apropos of a new case]. / Hiperparatiroidismo primario en la infancia: a propósito de una nueva observación.

A case of primary hyperparathyroidism in a twelve-year-old boy is reported. Primary hyperparathyroidism should be considered in patients with hypercalcemia and hypophosphataemia. Involvement of others organs must be discarded with appropriate complementary test and then, an exploratory surgery must be undertaken by an experienced surgeon to proceed, if it is needed, to parathyroidectomy.

[Urinary tract involvement as the first clinical manifestation of adenocarcinoma of the colon]. / Afectación de la vía urinaria como primera manifestación clínica de un adenocarcinoma de colon.

A patient with a previous history of left renal colic and no evidence of passing calculi was admitted to hospital for exacerbation of the urinary condition. The IVP and US evaluation revealed a ureteral stop which appeared to be extrinsic on retrograde uretero-pyelography. Surgery disclosed a large urinoma in the lumbar fossa. The compromised ureteral segment was removed and the pathological analysis of the surgical specimen revealed infiltration from adenocarcinoma. A primary tumor was sought early postoperatively due to irregular constipation referred by the patient. Finally, adenocarcinoma of the sigmoid colon was found. Only 8 similar cases of urinoma from extravasation due to ureteral obstruction secondary to a tumor have been reported in the literature up to 1982.