Luigi Bucci

Oral contrast-enhanced sonography for the diagnosis and grading of postsurgical recurrence of Crohn's disease.

Background: Postsurgical recurrence (PSR) is very common in patients with Crohns disease (CD) and previous surgery. Endoscopy is crucial for the diagnosis of PSR, also showing high prognostic value. Bowel sonography (BS) with or without oral contrast enhancement (OCBS) is accurate for CD diagnosis but its role in PSR detection and grading is poorly investigated. The aim was to evaluate the diagnostic accuracy of BS and OCBS for PSR compared to the endoscopical Rutgeertss grading system. Methods: We prospectively performed endoscopy, BS, and OCBS in 40 CD patients with previous bowel resection to provide evidence of possible PSR. Endoscopy, BS, and OCBS were executed 1 year after surgery, with PSR diagnosis and grading made in accordance with Rutgeerts. BS and OCBS were considered suggestive for PSR in the presence of bowel wall thickness (BWT) >3 mm. OCBS was performed after ingestion of 750 mL of polyethylene glycol (PEG). Also, a receiver operating characteristic (ROC) curve was constructed in order to define the best cutoff of BWT to discriminate mild from severe PSR (grade 0–2 versus 3–4 of Rutgeerts) for both BS and OCBS. Results: In all, 22 out of the 40 CD showed an endoscopic evidence of PSR (55%). A severe PSR was present in 14 patients (64%). Sensitivity, specificity, and positive and negative predictive values were 77%, 94%, 93%, and 80% for BS, and 82%, 94%, 93%, and 84% for OCBS. On the ROC curve a BWT >5 mm showed sensitivity, specificity, and positive and negative predictive values of 93%, 96%, 88%, and 97% for the diagnosis of severe PSR at BS, while a BWT >4 mm was the best cutoff differentiating the mild from the severe CD recurrence for OCBS, with a sensitivity, specificity, and positive and negative predictive values of 86%, 96%, 97%, and 79%, respectively. Conclusions: Both BS and OCBS show good sensitivity and high specificity for the diagnosis of PSR in CD, with a BWT >5 mm for BS and BWT >4 mm for OCBS strongly indicative of severe endoscopic PSR. Accordingly, these techniques could replace endoscopy for the diagnosis and grading of PSR in many cases.

Noninvasive diagnosis of small bowel Crohn's disease: direct comparison of bowel sonography and magnetic resonance enterography.

Background:The diagnosis of small bowel Crohn’s disease (CD) is performed by ileocolonoscopy, whereas the assessment of its extension can be achieved by radiologic studies or, noninvasively, by magnetic resonance (MR) enterography and bowel sonography (BS). However, few comparative studies exist directly comparing the diagnostic accuracy of BS and MRI. The aim of this study was to evaluate the diagnostic accuracy of BS and MRI for the diagnosis of small bowel CD. Methods:We prospectively performed a noninferiority diagnostic study including 234 consecutive subjects with suspected small bowel CD. All patients underwent IC (used as gold standard for diagnosis), BS, and MR enterography performed in random order by physicians who were blinded about the results. Results:The diagnosis of small bowel CD was made in 120 of 249 subjects (48%). Sensitivity, specificity, positive predictive value, and negative predictive value for CD diagnosis were 94%, 97%, 97%, and 94% for BS and 96%, 94%, 94%, and 96% for MR enterography, respectively. BS was less accurate than MR enterography in defining CD extension (r = 0.69), whereas the concordance in terms of CD location between the 2 procedures was high (k = 0.81). Also, MRI showed a fair concordance with BS about strictures (k = 0.82) and abscesses (k = 0.88), with better detection of enteroenteric fistulas (k = 0.67). Conclusions:BS and MR enterography are 2 accurate procedures for the diagnosis of small bowel CD, although MR seems to be more sensitive in defining its extension. BS could be used to select the patients for subsequent MRI examination.

Bowel sonography for the diagnosis and grading of postsurgical recurrence of Crohn's disease.

Background and Aims: Postsurgical recurrence (PSR) is common in patients with Crohns disease (CD) who have undergone surgery. Endoscopy is crucial for the diagnosis of PSR, showing also high prognostic value. Bowel sonography (BS) is accurate for CD diagnosis, but its role in PSR detection and grading has been poorly investigated. The aim of this study was to evaluate the diagnostic accuracy of BS compared to endoscopy in the detection of PSR. Materials and Methods: Between March 2002 and October 2005, to gain evidence of possible PSR, we prospectively performed endoscopy and BS in 45 CD patients who had undergone previous bowel resection. Endoscopy and BS were carried out 1 year after surgery, with diagnosis and grading of PSR made in accordance with Rutgeerts. BS was considered suggestive for PSR in the presence of bowel wall thickness (BWT) >3 mm. Also, an ROC curve was constructed to define the best cutoff value for BWT to differentiate mild from severe PSR (grade 1–2 vs 3–4 of Rutgeerts). Results: Of the 45 patients with CD, 24 showed endoscopic evidence of PSR (53%). Severe endoscopic PSR was present in 16 patients (66%). Sensitivity, specificity, and positive and negative predictive values of BS were 79%, 95%, 95%, and 80%, respectively, with a sensitivity of 93% for severe PSR. On the ROC curve, a BWT >5 mm showed sensitivity, specificity, and positive and negative predictive values of 94%, 100%, 100%, and 96%, respectively, in differentiating mild from severe PSR, in remarkable agreement with endoscopy (&kgr; = 0.90). Conclusions: BS shows good sensitivity and high specificity for the diagnosis of PSR in CD, with a BWT >5 mm being strongly indicative of severe endoscopic PSR. Hence, BS could replace endoscopy for the diagnosis and grading of PSR in patients who comply poorly with the endoscopic examination.

Fine needle aspiration cytology of desmoplastic small round cell tumor. A case report.

BACKGROUND Intraabdominal desmoplastic small round cell tumor (DSRCT) is a recently recognized type of primitive sarcoma characterized by a predilection for young males, a usually very aggressive course and generally unsuccessful therapy. A primitive histologic appearance with prominent desmoplasia and striking divergent multilineage differentiation are well-described morphologic features of this tumor, along with a consistent fusion of the EWS and WT1 genes at the molecular level. The cytologic literature contains only scattered references to this type of neoplasm. Detailed information on the clinical and fine needle aspiration (FNA) biopsy and the immunocytochemical and ultrastructural findings in a patient with DSRCT is presented. CASE REPORT A 23-year-old male had a firm abdominal mass with multiple secondary lesions of the liver. An FNA biopsy was performed under ultrasonographic guidance. CONCLUSION FNA of the liver nodules showed cohesive groups of small cells with hyperchromatic nuclei and inconspicuous nucleoli; immunocytochemically vimentin and desmin showed characteristic perinuclear globular positivity. FNA cytology is an effective means of diagnosing deeply located lesions. The cytologic features of DSRCT need to become familiar to pathologists and must be considered in the differential diagnosis of liver metastasis.

Laparoscopic colorectal surgery in learning curve: Role of implementation of a standardized technique and recovery protocol. A cohort study

Background Despite the proven benefits, laparoscopic colorectal surgery is still under utilized among surgeons. A steep learning is one of the causes of its limited adoption. Aim of the study is to determine the feasibility and morbidity rate after laparoscopic colorectal surgery in a single institution, “learning curve” experience, implementing a well standardized operative technique and recovery protocol. Methods The first 50 patients treated laparoscopically were included. All the procedures were performed by a trainee surgeon, supervised by a consultant surgeon, according to the principle of complete mesocolic excision with central vascular ligation or TME. Patients underwent a fast track recovery programme. Recovery parameters, short-term outcomes, morbidity and mortality have been assessed. Results Type of resections: 20 left side resections, 8 right side resections, 14 low anterior resection/TME, 5 total colectomy and IRA, 3 total panproctocolectomy and pouch. Mean operative time: 227 min; mean number of lymph-nodes: 18.7. Conversion rate: 8%. Mean time to flatus: 1.3 days; Mean time to solid stool: 2.3 days. Mean length of hospital stay: 7.2 days. Overall morbidity: 24%; major morbidity (Dindo–Clavien III): 4%. No anastomotic leak, no mortality, no 30-days readmission. Conclusion Proper laparoscopic colorectal surgery is safe and leads to excellent results in terms of recovery and short term outcomes, even in a learning curve setting. Key factors for better outcomes and shortening the learning curve seem to be the adoption of a standardized technique and training model along with the strict supervision of an expert colorectal surgeon.

Familial Adenomatous Polyposis Coli: Five Novel Mutations in Exon 15 of the Adenomatous Polyposis Coli (APC) Gene in Italian Patients

Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ‐line causative mutations within this gene have been described (Beroud and Soussi, 1996). Of these, about 95% are chain‐terminating mutations, and more than 60% have been localized within exon 15 (Nagase and Nakamura, 1993, Beroud and Soussi, 1996). Using polymerase chain reaction‐single strand conformation polymorphism, protein truncation test (PTT) and DNA sequencing we have identified five new frameshift mutations (2523insCTTA, 2638delA, 2803insA, 3185delAA, 4145delTCATGT), all occurring within exon 15 and giving rise to truncated protein products. Two of these new mutations are of particular interest because of the unusual phenotypic features shown by probands. The phenotype of the proband bearing the 2523insCTTA mutation at codon 842 was very aggressive with onset of the symptoms at 12 years, while the patient bearing the 3185delAA mutation at codon 1062 exhibited features of an attenuated form of FAP (AAPC). Our data reiterate the great heterogeneity of the mutational spectrum in FAP that gives rise to an extreme variability of the clinical expression.

Three Novel Germline Mutations in the Adenomatous Polyposis Coli Gene

Maria 1. Scarano, Marina De Rosa, Maurizio Gentile, Luigi Bucci, Giuseppe P. Ferulano, Nicola Carlomagno, Andrea Renda, Ginevra Guanti, Francesco Salvatore*, and Paola Izzo Dipartimento di Biochirnica e Biotecnologie Mediche, CEINGE-Biotechnologie Avanzate, Naples, Italy; Fax: + 39-81-746-3650 II Divisione di Chirurgia Generale III Divisione di Chirurgia Generale Instituto di Chirurgia Generale e Trapiand d’Organo, Medical School, University of Naples Federico 11, 80131 Naples Cattedra di Genetica Medica, Istituto di Medicina del Lavoro, Policlinico, Bari, Italy

Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online.

Since the identification of the BRCA1 and BRCA2 genes (MIM#s 113705 and 600185), more than hundred different mutations throughout both genes have been reported. Recurrent mutations are rare and mainly due to founder effects. We analyzed 12 sporadic female patients with breast cancer before age 35, as well as 16 unrelated families, presenting with either (i) at least 3 first degree relatives with breast and/or ovarian cancer diagnosed at any age, or (ii) at least 2 first and/or second degree relatives with breast and/or ovarian cancer before age 45 years. We performed a protein truncation test for BRCA1 exon 11 and BRCA2 exons 10 and 11 and heteroduplex analysis for all the remaining exons of BRCA1 and 2. Presence of genomic deletions encompassing exons 13 or 22 of BRCA1, known to be Dutch founder mutations, was investigated by PCR. In 6/16 (37.5%) unrelated families the causal mutation in either the BRCA1 or BRCA2 gene was identified. Four different mutations were found in the BRCA1 gene: IVS5+3A>G (intron 5), 1191delC (exon 11), R1443X (exon 13), IVS22+5G>A (intron 22) and two in the BRCA2 gene: 6503delTT (exon 11), 6831delTG (exon 11). 1191delC (BRCA1) and 6831delTG (BRCA2) are novel mutations. IVS5+3A>G in exon 5 of BRCA1 published by Peelen et al. (1997) as a novel Belgian mutation, was identified in one additional family, not fulfilling our inclusion criteria. In the group of 12 sporadic female patients no mutations were found.

Added value of CT colonography after a positive conventional colonoscopy: impact on treatment strategy

BackgroundConventional colonoscopy (CC) requires an experienced operator to avoid technical or interpretative errors, and an endoscopic error rate of 14% for tumor localization has been reported. We evaluated the impact of computed tomographic colonography (CTC) on surgical treatment strategy in patients with CC reported as having colorectal neoplasm.MethodsFifty-three patients testing positive for colorectal neoplasm on CC underwent CTC: 32 patients had CC in our hospital (group A) and 21 had CC in area hospitals (group B). All CTC procedures were performed with a multidetector CT system. The results of CTC and CC were compared with that of surgery. The preoperative surgical planning evaluated on the basis of CC and CTC was compared with the actual surgical approach, and the percentage of patients in whom CTC modified the treatment strategy suggested by CC was calculated.ResultsCTC changed the treatment strategy in four of 53 patients (7.5%) in whom CC showed technical or interpretative errors. Group analysis showed that CTC did not influence the surgical management in any patient in group A but did affect treatment strategy in four of 21 patients (19%) in group B. The effect of CTC on treatment strategy between groups was statistically significant (p<0.05). CTC identified five adenomas and three adenocarcinomas localized proximally to an impassable stenosis.ConciusionCTC can be used to reevaluate the findings of a positive CC and can indicate a more correct therapeutic approach in patients with colorectal neoplasms who are candidates for surgery.

Second look in colorectal surgery

PURPOSE: Follow-up should identify metachronous colonic neoplasms and precancers, suture line recurrences, and isolated liver or pulmonary metastases. For some sites of failure the surgical re-resection and multimodal approaches increase disease-free survival and quality of life. The aim of our study was to evaluate the role of the different follow-up plans and the carcinoembryonic antigen directed second-look surgery. METHODS: One hundred-sixty patients radically resected for Dukes B or C colorectal cancer were evaluated by a follow-up plan (plasma carcinoembryonic antigen every 2 months; echography every 6 months; chest x-ray every 12 months; and colonscopy at 1 year and then every 3–5 years). RESULTS: Eighty-nine recurrences were detected (55.6 percent). In 72 recurrences plasma carcinoembryonic antigen elevation was present. Eight carcinoembryonic antigen directed second-look surgeries were performed: in four patients surgical evidence of recurrence was found (two isolated liver metastases were radically resected); two patients with no surgical evidence of recurrence developed a surrenalic isolated metastases and pelvic and hepatic recurrences; two patients had a five-year diseasefree survival. In the 17 symptomatic patients with no carcinoembryonic antigen elevation diffuse disease was present, not resectable for cure. Four solitary liver metastases, one metachronous colonic neoplasm, and one suture line recurrence presented a five-year survival. CONCLUSIONS: The authors emphasize that carcinoembryonic antigen-directed second-look surgery is not acceptable for elevated costs. Intensive follow-up plans are superflous, while the monitoring of the carcinoembryonic antigen and instrumental restaging as an indicator of solitary liver metastases and mucosal lesions are very useful.