Secondary Burkitt lymphoma in a retinoblastoma patient with 13q deletion syndrome

We report a boy with constitutional deletion 13q chromosome associated with dysmorphic features and bilateral retinoblastoma. The patient developed secondary Burkitt lymphoma 5 years after the diagnosis of retinoblastoma at the age of 8 months. He has completed treatment for both malignancies. At present, he is 7 years old and still in remission.     

HPV genotyping in neuroendocrine carcinoma of the uterine cervix in northern Thailand

Objective

To determine the distribution of HPV genotypes in cervical neuroendocrine carcinoma (NECA) in northern Thailand, and evaluate the correlation between HPV genotype and clinicopathologic features.

Methods

Samples from 111 women treated for cervical NECA at Chiang Mai University Hospital between 1992 and 2009 were tested for HPV genotype. Samples were formaldehyde-fixed, paraffin-embedded, and tested via nested PCR and dot blot hybridization.

Results

Ninety-seven of the 111 samples were adequate for DNA analysis. HPV DNA was detected in 93 samples, of which 76 (81.7%) were single, 14 (15.1%) were multiple, and 3 (3.2%) were untyped infections. HPV18 was the most common subtype (70 cases, 75.3%), followed by HPV16 (28 cases, 30.1%). Other genotypes included HPV58 (3.2%), HPV52 (2.1%), and HPV33 (1.1%). Collectively, HPV16 and/or HPV18 were found in 83 cases (89.3%). Women with HPV18 infection were significantly younger (42.0 years) than those with non-HPV18 infections (54.1 years) (P = 0.003). Associated adenocarcinoma in situ was more frequently seen among women with HPV18 infection (P = 0.034).

Conclusions

HPV18 infection was predominant in cervical NECA. Variations in HPV genotype may be related to the clinicopathologic features and pathogenetic pathways of NECA. Vaccination against HPV16 and HPV18 might provide protection against cervical NECA in almost 90% of cases.     

Antenatal diagnosis of double outlet of right ventricle without extracardiac anomaly: a report of 4 cases

Four fetuses were diagnosed antenatally with double outlet of right ventricle (DORV) at 17, 20, 26, and 28 weeks' gestation, respectively, using 2-dimensional sonography. Chromosome study was normal in all 4 cases, and there were no extracardiac abnormalities. The sonographic diagnoses were based on the following findings: (1) arising of the 2 great vessels predominantly from the right ventricle; (2) the presence of bilateral coni; and (3) parallel direction of the 2 vessels rather than the normal perpendicular course. Two cases were terminated electively with postnatal autopsy confirmation; the other 2 cases were closely monitored throughout pregnancy and underwent normal vaginal delivery at term and subsequent surgical correction with good outcome. In conclusion, DORV can be readily diagnosed in utero by checking outflow tract even without 3-dimensional sonography and in the absence of obvious risk for congenital heart defects.     

Impact of histology on prognosis of patients with early-stage cervical cancer treated with radical surgery

Objective

To examine the effect of carcinoma cell type on tumor characteristics, tumor spread, tumor recurrence, and survival of patients with early-stage cervical cancer who had radical hysterectomy and pelvic lymphadenectomy.

Method

Data from 499 patients with stage IA to IIA cervical carcinoma who received primary surgical treatment from 2003 to 2005 at Chiang Mai University were retrospectively reviewed with regard to 3 histologic types; squamous cell carcinoma (SCC), adenocarcinoma (AC), and adenosquamous carcinoma (AS).

Results

Among the 499 patients, 71.1% had SCC, 23.4% had AC, and 5.4% had AS. There was no significant difference in stage, tumor size, tumor characteristics, or rate of loco-regional spread. A higher proportion of women with SCC needed adjuvant radiation (P = 0.001). Five-year recurrence-free survival (RFS) and overall survival (OS) were comparable among the groups. Among patients with pelvic node metastasis, 5-year RFS and OS were significantly lower in those with AC than in those with SCC (RFS, 66.1% versus 86.4%, P = 0.02; OS, 68.2% versus 88.2%, P = 0.05).

Conclusion

There was no difference among SCC, AC, and AS in most tumor characteristics, spread, recurrence, and survival in patients with early-stage cervical cancer. Among patients with pelvic lymph node metastasis, AC was associated with less favorable outcomes than SCC.     

High-grade histologic lesions in women with low-grade squamous intraepithelial lesion cytology from a region of Thailand with a high incidence of cervical cancer

Objective

To evaluate the prevalence of and predictors for underlying significant lesions in women with low-grade squamous intraepithelial lesion (LSIL) smears.

Methods

Records were retrospectively reviewed for 208 women with LSIL who underwent colposcopy and histological evaluation from October 2004 through April 2009.

Results

Mean age of the patients was 38.5 years. Forty-four (21.2%) women were nulliparous; 20 (9.6%) women were postmenopausal; 29 (13.9%) women tested positive for HIV. Thirty-three (15.9%) women were current users of combined oral contraceptive pills. The pathological results of initial colposcopic evaluations were: 63 (30.3%) with cervical intraepithelial neoplasia (CIN) 2-3; 62 (29.8%) with CIN 1; 4 (1.9%) with cervical cancer; and 79 (38.0%) with no epithelial lesion. Current use of combined oral contraceptive pills, a positive HIV test, and multiparity were significant independent predictors for high-grade disease.

Conclusion

Approximately one-third of women with LSIL in our population have underlying significant lesions. Current use of combined oral contraceptive pills, a positive HIV test, and multiparity are significant predictors for high-grade lesions.     

Factors predicting occult invasive carcinoma in women undergoing a 'see and treat' approach

This study was undertaken to evaluate the incidence and independent predictors of unexpected invasive cancer of cervix in women with high-grade squamous intraepithelial lesions (HSIL) on Pap smear who had undergone a 'see and treat' approach. Women with HSIL on cervical cytology undergoing colposcopy, followed by loop electrosurgical excision procedure (LEEP) at Chiang Mai University Hospital between January 2001 and April 2006 were analyzed. During the study period, 446 women were identified. Mean age was 45.6 years (range, 25-75 years). One hundred and twenty-one (27.1%) women were postmenopausal. Unsatisfactory colposcopy was observed in 357 (80.0%) women. Of the 446 women, 76 (17.04%, 95% CI= 13.67 to 20.86) had invasive lesions on LEEP specimens. Multivariate analysis revealed that unsatisfactory colposcopy and premenopausal status were statistically significant independent predictors for invasive lesions in a 'see and treat' LEEP with an adjusted odds ratio of 4.68 (95%CI=1.82 to 12.03, P<0.01) and 2.10 (95%CI=1.12 to 3.94, P=0.02), respectively. In conclusion, occult invasive lesion of the cervix was noted in 17% of women with HSIL Pap smear who underwent a 'see and treat' approach at our institute. Unsatisfactory colposcopy and premenopausal status were significant independent predictors of having such lesion.     

Numerous intracystic floating balls as a sonographic feature of benign cystic teratoma: report of 5 cases.

OBJECTIVE: The purpose of this series was to describe the unusual but unique sonographic pattern of mature cystic teratoma. METHODS: Five patients of reproductive age with clinical manifestations of a pelvic mass were evaluated with sonography for treatment planning. RESULTS: All 5 cases showed the similar sonographic pattern of a large cystic tumor filled with multiple echogenic spherical structures floating in the cystic background. Of the 5 patients, 3 had rather large balls varying in size between 1 and 4 cm in the same tumor masses, whereas the other 2 had numerous smaller balls of about 0.5 cm in diameter. The numerous crowded very small echogenic balls in the last 2 cases mimicked solid nodules representing malignancy. However, there was no vascularization in the balls, which suggested a benign nature. The postoperative pathologic diagnosis was mature cystic teratoma without any malignant component in all cases. CONCLUSIONS: The sonographic feature of intracystic floating echogenic balls is probably pathognomonic for mature teratoma and is easily detected in most cases. Color Doppler sonography is helpful in differentiating these benign nodules (small balls) from malignant tumors.     

Prenatal sonographic diagnosis of truncus arteriosus associated with holoprosencephaly

We present the case of a truncus arteriosus associated with holoprosencephaly detected in a fetus in the first trimester and the sonographic findings that established this diagnosis. A physical exam was performed on a 35-year-old pregnant woman, gravida 2, para 1. At 20 weeks, sonography showed large-for-date uterine size. Fetal biometry was consistent with menstrual age. Amniotic fluid volume was elevated to 25 AFI cm. Fetal echocardiography revealed a single common artery arising from the heart, a ventricular septal defect, and other cardiac defects. Abnormalities of the fetal brain and face were also shown via sonography, including the presence of a common lateral ventricle without falx cerebri. Alobar holoprosencephaly, the most severe form of holoprosencephaly, was diagnosed. Prenatal chromosomal analysis was offered and the patient elected to have cordocentesis. The chromosome study was normal. Success in surgical repair of truncus arteriosus is established, but alobar holoprosencephaly is associated with neonatal death. Continuation of the pregnancy carried risks for the mother. After proper counseling, the parents of this fetus were offered and accepted termination of pregnancy. A male abortus weighing 320 grams was delivered. Postnatal findings and autopsy confirmed the diagnosis.