Gene numerical imbalances in cytological specimens based on fluorescence/chromogenic in situ hybridization analysis.

Design and development of novel targeted therapeutic strategies is an innovation in handling patients with solid malignancies including breast, colon, lung, head & neck or even pancreatic and hepatocellular carcinoma. For a long time, immunohistocytochemistry (IHC/ICC) has been performed as a routine method in almost all labs for evaluating protein expression. Modern molecular approaches show that identification of specific structural and numerical imbalances regarding genes involved in signal transduction pathways provide important data to the oncologists. Alterations in molecules such as epidermal growth factor receptor (EGFR), HER2/neu, PTEN or Topoisomerase IIa affect the response rates to specific chemotherapeutic agents modifying also patients' prognostic rates. In situ hybridization (ISH) techniques based on fluorescence and chromogenic variants (FISH/CISH) or silver in situ hybridization (SISH) are applicable in both tissue and cell substrates. Concerning cytological specimens, FISH/CISH analysis appears to be a fast and very accurate method in estimating gene/chromosome ratios. In this paper, we sought to evaluate the usefulness of FISH/ CISH analysis in cytological specimens, describing also the advantages and disadvantages of these methods from the technical point of view.

Correlation between different p53 expression patterns and chromosome 17 imbalances in pancreatic ductal adenocarcinoma based on tissue microarray analysis.

PURPOSE: p53 (gene location: 17p13.1) overexpression is a common event in pancreatic ductal adenocarcinoma (PDAC), a highly aggressive malignant neoplasm. Although specific mechanisms of p53 gene deregulation have been identified, correlation between p53 expression and chromosome 17 gross numerical imbalances (aneuploidy) are under investigation. METHODS: Using tissue microarray technology, 60 paraffin-embedded tissue samples of histologically confirmed primary PDACs were cored and re-embedded to the final recipient block. Immunohistochemistry (IHC) for p53 expression and chromogenic in situ hybridization (CISH) for chromosome 17 numerical alterations were performed. Digital image analysis was applied for p53 expression levels evaluation (Nuclear Labelling Index-NLIs). RESULTS: p53 overexpression was detected in 38/60 (63.3%), whereas chromosome 17 aneuploidy was observed in 21/60 (35%) cases, respectively. Polysomy was identified in 19 cases, whereas monosomy in 2 of them. p53 overall expression was strongly correlated to the stage of the examined tumors (p=0.02). Chromosome aneuploidy was not associated to tumors' stage and grade (p=0.42, p=0.71, respectively). Although overall chromosome 17 centromeric imbalances were not correlated with p53 overexpression (p=0.32), both cases with monosomy demonstrated high expression levels. CONCLUSION: p53 overexpression combined with chromosome 17 numerical imbalances characterizes a significant proportion of PDACs. Because commercially available antip53 antibodies detect mutant and also wild-type protein expression levels, chromosome 17 monosomy maybe is a gross genetic criterion for discriminating them due to point mutation that frequently affects the remaining allele.

TNP-assisted fascial closure in a patient with acute abdomen and abdominal compartment syndrome.

Topical negative pressure was applied to prevent abdominal compartment syndrome in a patient following surgery for an acute abdomen. It delayed fascial closure, protected the underlying bowel and facilitated abdominal re-entry.

Large intraparotid facial nerve schwannoma: case report and review of the literature.

Here is reported an extremely rare case of a large intraparotid facial nerve schwannoma in a 32-year-old female who presented with a parotid mass. There had been a long clinical course and sudden onset of facial weakness. Diagnostic evaluation and surgical management are discussed along with a brief review of the literature.

Abdominal wall endometriosis: report of two cases.

Endometriosis is the abnormal existence of functional uterine mucosal tissue outside the uterus. It is a usual disorder of women in reproductive age, which is mainly located in the female genital tract. We report the cases of two women with endometriosis of the abdominal wall; the first one in the rectus abdominis muscle and the second one in the surgical scar of previous caesarian incision. The diagnosis was made by the histopathological analysis of the surgical specimens.

Perforated appendix and periappendicular abscess within an inguinal hernia.

We report an extremely rare case of complicated Amyand's hernia. A 61-year-old male patient was admitted with clinical signs of incarcerated right inguinal hernia and localised tenderness in the right iliac fossa. He underwent emergency surgery and the operative findings included perforated appendix and periappendicular abscess within a right inguinal hernia sac. Appendectomy and Shouldice's herniorrhaphy without prosthetic mesh placement were performed. Histology revealed the presence of a villous adenoma near the base of the appendix. We point out that although Amyand's hernia is a very rare clinical entity, it should always be considered in the differential diagnosis in cases with clinical signs of incarcerated right inguinal hernia, especially when there are no pathological findings on the abdominal X-rays.

Large dermoid cyst of the spermatic cord presenting as an incarcerated hernia: a rare presentation and literature review.

Dermoid cyst of the spermatic cord is a very rare clinical entity with only a few cases reported in the literature so far. We herein describe an extremely rare case of a large dermoid cyst of the spermatic cord measuring 8.5 x 5 x 5 cm in a young patient who presented with clinical manifestations of an incarcerated inguinal hernia. After the cyst excision, a diffuse direct hernia became apparent and a Lichtenstein polypropylene mesh repair was performed. Direct hernia was likely the result of chronic pressure on the inguinal floor maintained by the large cyst. We conclude that although very rare, dermoid cyst of the spermatic cord should be considered as a part of the differential diagnosis in patients presenting with an irreducible inguinal mass of a long course.

Incarceration of Meckel's diverticulum through a ventral incisional defect: a rare presentation of Littre's hernia.

Meckel's diverticulum is the most common congenital abnormality of the gastrointestinal tract and is the result of the incomplete obliteration of the omphalomesenteric duct. Herniation of Meckel's diverticulum is called Littre's hernia and is a rare occurrence. Herein is described an extremely rare case of incarcerated and strangulated Meckel's diverticulum through an incisional ventral defect in a 59-year-old female patient, who presented with manifestations of acute surgical abdomen. At emergency laparotomy, a strangulated small-bowel loop containing a Meckel's diverticulum was found, which had migrated through the subcutaneous tissues to the right iliac fossa, where a painful mass was palpated on admission. Segmental resection of the ischemic ileum was performed and the abdomen was closed without the use of a prosthetic mesh. Histopathological findings were suggestive of a true diverticulum containing heterotopic gastric mucosa.

Pelvic confined idiopathic retroperitoneal fibrosis mimicking a large tumor.

Idiopathic retroperitoneal fibrosis (IRF) entirely confined to the pelvic cavity is an extremely rare clinical entity. Herein, is described the case of a 36- year old male who presented with clinical and imaging manifestations of a large pelvic tumor. Exploratory laparotomy revealed a large mass in the right pelvis originating from the retroperitoneal space, displacing the right iliac vessels, the right ureter and the urinary bladder completely to the left. A laborious resection of the mass measuring 14 x 10cm was performed. Histopathological examination and detailed immunohistochemistry analysis were suggestive of idiopathic retroperitoneal fibrosis with no evidence of malignancy. This is a very rare case regarding localization and clinical presentation of idiopathic retroperitoneal fibrosis. We conclude that IRF should be included in the differential diagnosis of patients presenting with a pelvic mass even if there is no involvement of the typical para aortic area.

Spontaneous rupture of splenic artery aneurysm in pregnancy: a case report.

Splenic artery aneurysms (SAA) occur predominantly in women, and the majority of them are asymptomatic until rupture. Over half of those that rupture occur during pregnancy. Spontaneously ruptured SAA during pregnancy is always a life-threatening surgical entity for both the mother and the fetus. We report the case of a 29-year-old woman at 34 weeks' gestation with spontaneous rupture of SAA who underwent emergency exploratory laparotomy and splenectomy. This case illustrates the need to consider ruptured SAA as part of important differential diagnosis in haemodynamically unstable pregnant women.