儿童遗传性肿瘤易感综合征和TP53基因种系突变

儿童遗传性肿瘤易感综合征是由于肿瘤相关基因的种系突变所导致的一类遗传性疾病,患者具有明显的肿瘤易感倾向。TP53基因的种系突变占到所有遗传性肿瘤的20%~30%,是最常见的肿瘤突变基因。通过对TP53基因的检测,可以帮助临床医师更好的对遗传性肿瘤患者及家庭成员进行管理。     

GENE ALTERATIONS AND APOPTOSIS IN RHABDOMYOSARCOMA

The aim of the study is to look retrospectively for gene alterations and evaluate apoptosis in rhabdomyosarcomas RMSs from 40 children including 24 patients not previously treated. Histological subtype was botryoid in 1 case, spindle cell in 2 cases, embryonal in 22 cases, alveolar in 10 cases, and undetermined in 5 cases. Gene expression was evaluated immunohistochemically for p53 tumor suppressor gene, MDM2 oncogene, and bcl-2 gene. N-myc amplification was detected by in situ hybridization. Apoptotic cells and bodies were recognized morphologically and stained by 3-OH end labeling. Intranuclear accumulation of p53 protein was obvious 25 of tumor cells in two recurrent embryonal RMSs. Expression of the MDM2 gene was intense 80 of tumor cells in a recurrent and metastatic embryonal RMS. Amplification of the N-myc gene was obvious about 20 of tumor cells in an alveolar RMS metastatic at diagnosis. Expression of the bcl-2 gene was intermediate 25-75 of tumor cells in 26 of cases and high 75 of tumor cells in 10 of cases either embryonal or alveolar. The percentage of tumor cells showing morphologically recognizable apoptosis was 0.2-7.5 mean 2.9 . There was no correlation between apoptosis and histological subtype, bcl-2 expression, or previous treatment.     

A VIRILIZING ADRENAL TUMOR WITH BORDERLINE ELEVATION OF URINARY 17-KETOSTEROIDS AND HISTOCHEMICAL DEMONSTRATION OF A DEFICIENCY IN THE δ5/δ4-ISOMERASE, 3β-HYDROXYSTEROID DEHYDROGENASE ENZYMATIC SYSTEM

Abstract. A 3-year-old girl affected by a virilizing tumor of the adrenal gland, without significant elevation in the levels of 17 ketosteroids (17-KS) urinary excretion, was studied clinically. Her symptoms started abruptly at the age of 2, with progressive enlargement of the clitoris and the appearance of pubic hair. In various tests, the 17-KS levels barely exceeded the upper normal limits and at times remained within normal limits. The retropneumoperitoneum X-ray suggested an enlargement of the right adrenal gland and the presence of a neoplasm, which was actually discovered during surgery. Histopathological examination revealed a well-defined neoplasm, without capsule invasion and with accentuated cell polymorphism. Histoenzymology showed that the tissue lacked the enzymatic system involving 3β-hydroxysteroid dehydrogenase (3β-HSD). Indoxylesterase (I.EST-A) activity identified the tumor as originating from the internal layers of the adrenal cortex. The histochemical findings were correlated to the clinical picture and the levels of urinary 17-KS.