Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome responsible for 1% of colorectal cancers (CRCs). Up to 90% of classic FAPs are caused by inactivating mutations in APC, and mosaicism has been previously reported in 20% of de novo cases, usually linked to milder phenotypic manifestations. This study aimed to explore the prevalence of mosaicism in 11 unsolved cases of classic FAP and to evaluate the diagnostic yield of somatic testing. Paired samples of colorectal polyps, tumors, and/or mucosa were analyzed using a custom next-generation sequencing panel targeting 15 polyposis and CRC-predisposing genes. Whenever possible, the extension of mosaicism to blood or sperm was also examined. Of 11 patients with classic adenomatous polyposis, a mosaic pathogenic variant in APC was identified in 7 (64%). No other altered genes were identified. In two of seven patients (29%), mosaicism was found restricted to colonic tissues, whereas in five of seven patients (71%), it was extended to the blood. Germline affectation was confirmed in one patient. We report the first analysis at a somatic level of 15 genes associated with CRC susceptibility, which highlights the role of APC mosaicism in classic FAP etiology. The results further reinforce the importance of testing target tissues when blood test results are negative.

Adrenohepatic fusion: Adhesion or invasion in primary virilizant giant adrenal carcinoma? Implications for surgical resection. Two case report and review of the literature.

INTRODUCTION: Adrenohepatic fusion means union between the adrenal gland and the liver, intermingling its parenchymas. It is not possible to identify this condition by image tests. Its presence implies radical and multidisciplinar approach. PRESENTATION OF CASES: We report two female cases of 45 and 50 years old with clinical virilization and palpable mass on the abdominal right upper quadrant corresponding to adrenocortical carcinoma with hepatic fusion. The contrast-enhanced tomography showed an indistinguishable mass involving the liver and the right adrenal gland. In the first case, the patient had a two-time operation, the former removing only the adrenal carcinoma, and the second performing a radical surgery after an early relapse. In the second case, a radical right en bloc adrenohepatectomy was performed. Both cases were pathologically reported as liver-infiltrating adrenal carcinoma. Only in the second case the surgery was radical effective as first intention to treat, with 3 years of disease-free survival. DISCUSSION: ACC is a rare entity with poor prognosis. The major indicators of malignancy are tumour diameter over 6cm, local invasion or metastasis, secretion of corticosteroids, virilization and hypertension and hypokalaemia. The parenchymal fusion of the adrenal cortical layer can be misdiagnosed as hepatocellular carcinoma with adhesion with the Glisson capsule. AHF in such cases may be misinterpreted during surgery, what may impair its resectability, and therefore the survival. The surgical treatment must be performed en bloc, often using liver vascular control. Postoperative treatment must be offered immediately after surgery. CONCLUSION: We report two consecutive rare cases of adrenohepatic fusion in giant right adrenocortical carcinoma, not detectable by imaging, what has important implications for the surgical decision-making. As radical surgery is the best choice to offer a curative treatment, it has to be performed by a multidisciplinary well-assembled team, counting with endocrine and liver surgeons, and transplant surgeons in case of vena cava involvement, in order to maximize the disease-free survival.

Manifestaciones clínicas y factores de riesgo asociados a la infección por Cryptosporidium en pacientes de Barranquilla y tres municipios del Atlántico (Colombia) / Clinical manifestations and risk factors associated with Cryptosporidium spp. infections in patients from Barranquilla and three “municipios” of Atlántico (Colombia)

Objectives: To characterize the clinical manifestations and risk factors associated with cryptosporidiosis.Materials and methods: A descriptive study was performed on 423 patients, with macroscopic and microscopic faecal sample analyses, to identify the clinical manifestations and risk factors associated with cyptosporidiosis in 3 towns and the principal city in Atlantico(Colombia) over a 4-month period. Cryptosporidium spp oocysts were identified after stainingwith modified Ziehl-Neelsen. A saturated NaCl parasite-concentration method was also compared with wet-mount method for the detection of all intestinal parasites in 279/423 (66.0 percent) patients. Statistical analyses were performed using EPI-INFO 6.04.Results: The prevalence of Cryptosporidium spp. was 1.9percent (8/423). Statistical associationswere found between cryptosporidiosis infections and fever (p=0.01), blood in the faecalsamples (p=0.01) and the presence of household animals (p=0.02). Most of the patients(267/423: 63.1percent) were positive for intestinal parasites. The most commonly identifiedparasites were the non-pathogenic protozoa, Entamoeba coli (118/423: 27.9percent) and Endolimaxnana (86/423: 20.3percent), followed by Blastocystis hominis (76/423: 18percent), Entamoebahistolytica/dispar (28/423: 6.6percent) and Giardia lamblia (23/423: 5.4percent). Ascaris lumbricoides(6/423: 1.4percent) was the most common helminth identified. Sensitivities/specificities of99.4percent/95.2percent and 87.5percent/99.6percent were obtained for protozoa and helminths respectivelyusing the saturated NaCl method.Conclusions: Patients with cryptosporidiosis had fever and bloody faecal samples, andwere probably infected by domestic animals. Microscopy, using the modified Ziehl-Neelsenstain, was essential for Cryptosporidium spp. oocyst identification. The saturated NaClmethod efficiently concentrated the parasites.

Síndrome HELLP. A propósito de un caso en el Hospital Universidad del Norte / Hellp Syndrome. About a case at Hospital Universidad del Norte

El Síndrome Hellp es descrito como una enfermedad ocasional en la que ocurre hemólisis, enzimashepáticas elevadas y trombocitopenia en pacientes con preeclampsial severa. Aunque las característicasdel Síndrome Hellp pueden ser similares a las de la preeclampsia severa, muchos estudios han reportadoalgunas diferencias en su presentación clínica.Se hizo una revisión del número de casos de Síndrome Hellp en el servicio de gineco-obstetricia denuestra institución, y encontramos 8 casos de abril a diciembre del 2005, lo que nos estimuló a revisaresta patología debido al incremento de su presentación. El objetivo de este caso clínico fue revisarfactores de riesgo, curso clínico, manejo y hacer énfasis en la importancia del control prenatal en uncaso presentado en el Hospital Universidad del Norte.

The Hellp syndrome is described as an occasional disease where a combination of hemolysis, elevatedliver enzymes, and thrombocytopenia is displayed in patients with severe gestational hypertension.While many features of Hellp syndrome may be similar to severe preeclampsia, several studies havereported some differences in their clinical presentation. A casesreview of Hellp syndrome was performedin gynecology and obstetric service. Eight cases were found from april to december of 2005, whichstimulate to review this pathology. The aim of this clinic case was to review the risk factors, the cliniccourse and the management, with an emphasis on the importance of prenatal care in a case presentedin Universidad del Norte Hospital.