Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

OBJECTIVES: To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. METHODS: An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. RESULTS: Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. CONCLUSION: Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba.

Extramammary Paget's disease of the groin with underlying carcinoma and fatal outcome.

Extramammary Paget's disease (EMPD) is considered to be an intraepithelial adenocarcinoma. Typically involved anatomical sites are the vulvar, perianal, perineal, scrotal and penile regions. Clinically, the lesions present as well-defined, moist, erythematous plaques usually accompanied by pruritus. An unusual feature of EMPD is its association with cutaneous, adnexal-structure adenocarcinomas and its association with internal malignancies. Histopathological examination shows epidermal acanthosis and elongated rete ridges. Paget's cells are large intraepidermal cells with a large nucleous and abundant pale cytoplasm. Recent studies of perianal and vulvar EMPD have described distinct immunohistochemical subtypes termed cutaneous and endodermal. Cutaneous EMPD is characteristically positive for cytokeratin (CK)7, negative for CK20, and positive for gross cystic disease fluid protein (GCDFP)15+, whereas endodermal EMPD shows a CK7+ CK20+ GCDFP15- phenotype. Surgery remains the treatment of choice, with either wide surgical excision or Mohs' micrographic surgery. We present a case of EMPD with an underlying carcinoma, which combined immunohistochemical findings suggestive of the cutaneous subtype (positive for CK7, GCDFP15, mucin (MUC)1, human epidermal growth factor receptor (HER)2/neu positive) and the endodermal subtype, frequently associated with internal malignancy (CK20, MUC2, CDX-2 positve); however, our patient had no associated internal malignancy.

Presentación congénita de una histiocitosis de células de Langerhans no autoinvolutiva / Congenital presentation of nonself-healing Langerhans’ cell histiocytosis

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Infiltrating ductal carcinoma and synchronous malignant phyllodes tumour. Diagnostic and therapeutic approaches

Simultaneous presentation of breast cancer and malignant phyllodes tumour is rare. A female patient presented with a nodule in her left breast (infiltrating ductal carcinoma). On magnetic nuclear resonance another suspicious lesion (malignant phyllodes) was found in the right breast. Bilateral mastectomy was performed. Thirty two months later the patient is still free of disease. The approach to dealing with synchronous breast tumours should be the same as that normally used (AU)

Multidrug resistance-associated protein (MRP1) gene is strongly expressed in gastric carcinomas. Analysis by immunohistochemistry and real-time quantitative RT-PCR.

AIMS: To assess MRP1 protein and MRP1 mRNA levels in gastric carcinomas and in non-neoplastic mucosa remote from the tumours. MRP1 gene expression may play a role in the complex pattern of chemoresistance present in gastric carcinomas. METHODS AND RESULTS: A total of 57 carcinomas and respective gastric tissues were included for immunohistochemical assessment with the anti-MRP1 monoclonal antibodies MRPr1 and QCRL-1. Of these, 35 tumour and gastric mucosa tissues were also assessed by real-time quantitative reverse transcriptase-polymerase chain reaction. Medium or high MRP1 protein expression was detected in 89% and 77% of carcinomas and in 96% and 93% of non-neoplastic gastric mucosa by MRPr1and QCRL-1, respectively. No difference in MRP1 mRNA levels was detected between carcinomas and non-neoplastic gastric mucosa tissues in 77% of the patients. A significant correlation was found between MRP1 mRNA level and protein expression detected in carcinomas related to non-neoplastic gastric mucosa, although they were non-concordant in 29% of the patients. CONCLUSIONS: MRP1 gene is usually expressed in most gastric carcinomas and does not differ substantially from that observed in non-neoplastic gastric mucosa remote from the tumour. However, a decrease in MRP1 gene expression is found in some carcinomas. For accurate assessment of changes in MRP1 expression between tumour and normal tissues both protein and mRNA detection are necessary.

Embarazo ectópico ovárico primario resuelto mediante laparoscopia / Primary ovarian pregnancy and laparoscopic therapy

El embarazo ectópico de localización en el ovario (EEO) es una forma poco frecuente de presentación, cuya incidencia oscila entre 1:7000-40000 embarazos y corresponde al 0.5 por ciento - 6 por ciento de las gestaciones extrauterinas. En la actualidad el diagnóstico precoz utiliza la laparoscopia quirúrgica con excelentes resultados: menor estancia hospitalaria, recuperación posoperatoria temprana, menor formación de adherencias y mejor pronóstico reproductivo. Se presenta el caso de mujer de 36 años con EEO de 5,1 semanas de gestación en la que mediante laparoscopia se extrajo el embarazo, lográndose una evolución satisfactoria (AU)

[Endobronchial inflammatory pseudotumor. A case report and review of the literature]. / Seudotumor inflamatorio endobronquial. Presentación de un caso y revisión de la literatura.

The endobronchial inflammatory pseudotumor is a little described variant of inflammatory lung pseudotumor, the growth of which is directed towards bronchial lumen. A case is presented and seventeen other well documented cases from the medical literature are reviewed. This variant has been frequently observed with clinical manifestations of obstructive respiration and atelectasis as a radiologic pattern allowing detection at an early age. Endoscopy does not usually confirm diagnosis; surgery and study of the specimen removed is therefore necessary.