Intra-abdominal desmoid tumors: a case report.

INTRODUCTION: Desmoid tumors are defined as a rare fibroblastic proliferative disease and may occur in any musculoaponeurotic or fascial tissue . CASE REPORT: A 54-year-old man with FAP referred to our institution presenting fever and abdominal pain. Four years before a prophylactic colectomy with ileal-rectal anastomosis was done. Three years later a wide intraabdominal mass with desmoid characteristics was detected. In spite of therapy with tamoxifene the RM control showed an increase of mass dimension. Few days later the patient arrived in our istitute with fever and abdominal pain. Medical therapy didn't improve clinical symptoms and the patient underwent surgery. DISCUSSION: Desmoid tumors are benign tumors, but not a benign disease. Most of these tumors occur sporadically, but about 5% arise in association with familial adenomatous polyposis. Intra-abdominal desmoid tumors remain asymptomatic until their growth and infiltration causes visceral compression. They can cause serious complications and treatment is often unsuccessful. Aggressive fibromatosis treatment should be evaluated and managed by a multidisciplinary team with expertise and experience in sarcoma, prior to initiation of therapy. In FAP, surgery has been recommended for abdominal wall tumors but there are only few indications for intra-abdominal disease like pain, bowel obstruction and desmoids perforation.

Duodenal tumors. Four case reports.

AIM: Reporting our experience in the treatment of duodenal neoplasms. MATERIAL OF STUDY: Management and treatment of four patients presenting a duodenal neoplasm. RESULTS: Three out of four patients died after surgery for dehiscence and/or bleeding. One, who underwent palliative bypass, died after four months from unknown causes. DISCUSSION: Duodenal neoplasms are rare and their diagnosis is difficult and late. In literature, there is no standardized management of this kind of neoplasm; the commonest surgical approaches are pancreaticoduodenectomy, segmental duodenal resection and palliative operations. The surgical choice is based on site and stage, both in Literature than in our experience. Regardless of the surgical decision, the patients have a poor outcome because of an advanced stage at diagnosis. CONCLUSIONS: It can be asserted that duodenal neoplasia offers many diagnostic and therapeutic difficulties. This may be due to its rarity, which does not allow the definition of a standard course of treatment, resulting in the inability to have a unique diagnostic and therapeutic approach. There is often a late diagnosis and the need to perform emergency surgery. Therefore prognosis is greatly aggravated by the high incidence of postoperative complications, in part due to the urgency in which the surgeries are carried out.

Nodules in autoimmune thyroiditis are associated with increased risk of thyroid cancer in surgical series but not in cytological series: evidence for selection bias.

BACKGROUND: The association of thyroid cancer and autoimmune thyroiditis (AIT) has been widely addressed, with conflicting results in surgical and cytological series, likely affected by selection bias. OBJECTIVE: The objective of the study was to evaluate the association between the cytological features suggestive or indicative of malignancy and AIT in 2504 consecutive patients (2029 females and 475 males, mean age 58.3 ± 14.1 y) undergoing fine-needle aspiration cytology for thyroid nodules. PATIENTS: Based on the clinical diagnosis, patients were divided into four groups: AIT with nodules (N-AIT, 14.9%); nodular Graves disease (N-GD, 2.8%); nodular goiter and negative thyroid antibodies (NGAb-, 68.4%); and nodular goiter with positive thyroid antibodies (NGAb+, 13.9%). RESULTS: The prevalence of patients with cytological features suggestive (Thy4) or indicative of malignancy (Thy5) was 4.5 % in the N-AIT group, not different compared with the other groups (N-GD, 5.6%; NGAb-, 5.0%; NGAb+, 4.3%). No difference was also found in the other categories (Thy2 and Thy3). When the same analysis was performed in the subgroup of patients (14.3%) with a histological confirmation, we found that the prevalence of differentiated thyroid cancer was significantly higher (P = .01) in the N-AIT group (67.8%) compared with the other groups (N-GD, 40.0%; NGAb-, 37.2%; NGAb+, 36.9%). CONCLUSIONS: The results of our cytological series do not support a link between N-AIT and thyroid cancer. The association between cancer and N-AIT found in the histology-based series is likely due to a selection bias represented by the fact that the prevalent indication for surgery in the N-AIT group was suspicious cytology (60.7% of patients) more frequently than in the other groups.

Telomere length in neoplastic and nonneoplastic tissues of patients with familial and sporadic papillary thyroid cancer.

INTRODUCTION: Many studies have found an association between altered telomere length (TL), both attrition or elongation, and cancer phenotype. Recently, we have reported that patients with the familial form of papillary thyroid cancer (FPTC) have short telomeres in blood leucocytes. AIM: To evaluate relative TL (RTL) at somatic level in neoplastic and nonneoplastic tissues of patients with FPTC (n = 30) and sporadic PTC (n = 46). METHODS: RTL was measured by quantitative PCR in neoplastic thyroid tissues, in the corresponding nontumor thyroid tissues (normal contralateral thyroid), and in other extrathyroidal tissues (lymph nodes, muscles, or buccal mucosa). RTL was also measured in adenomas and hyperplastic nodules. In a subset of samples, telomerase expression was measured by quantitative PCR. RESULTS: Mean ± SD RTL of FPTC patients was short in neoplastic thyroid tissues (0.87 ± 0.2) with no difference from the normal contralateral thyroid tissues (0.85 ± 0.11) and extrathyroidal tissues (0.85 ± 0.31). On the contrary, in patients with sporadic PTC, the mean ± SD RTL in the neoplastic tissues (1.73 ± 0.63) was significantly shorter than that found in normal contralateral tissues (2.58 ± 0.89) and extrathyroidal tissues (2.5 ± 0.86). For all tissue samples (cancer, normal thyroid, and nonthyroidal tissues) the mean ± SD RTL of familial cases was shorter (P < 0.0001) than that found in tissues from sporadic PTC. RTL of FPTC was also lower (P < 0.0001) than that of 23 follicular adenomas (1.6 ± 0.7) and 24 hyperplastic nodules (2.2 ± 0.9). CONCLUSIONS: Our results demonstrate that short telomeres are a consistent feature of PTC, which in familial cases, is not restricted to the tumor tissue. This finding suggests that FPTC has a distinct, heritable, genetic background.

The surgical palliative treatment of myelofibrosis. Personal experience.

We report a case of significant splenomegaly by myelofibrosis, treated in our institution, that we believe relevant to the completeness parade of symptoms and the exceptional size.

Small cell carcinoma of the breast. Report of a case.

The recognition of undifferentiated forms of endocrine tumors in the extrapulmonary sites is considered as extremely infequent. Immunohistochemical patterns of this tumor are similar to small cell neuroendocrine cancer of the lung and as the pulmonary one, it is more aggressive than carcinoma without neuroendocrine differentiation. We report a case of a 68 years old woman with a primary small cell carcinoma of the breast gland presented as a palpable and mobile 2 cm mass, located in the upper outer quadrant of her right breast. It was treated with surgery and the diagnosis was made after surgical treatment, thanks to the immunohistochemical studies of tissue.

Impact of proto-oncogene mutation detection in cytological specimens from thyroid nodules improves the diagnostic accuracy of cytology.

CONTEXT: Fine-needle aspiration cytology (FNAC) is the gold standard for the differential diagnosis of thyroid nodules but has the limitation of inadequate sampling or indeterminate lesions. OBJECTIVE: We aimed to verify whether search of thyroid cancer-associated protooncogene mutations in cytological samples may improve the diagnostic accuracy of FNAC. STUDY DESIGN: One hundred seventy-four consecutive patients undergoing thyroid surgery were submitted to FNAC (on 235 thyroid nodules) that was used for cytology and molecular analysis of BRAF, RAS, RET, TRK, and PPRgamma mutations. At surgery these nodules were sampled to perform the same molecular testing. RESULTS: Mutations were found in 67 of 235 (28.5%) cytological samples. Of the 67 mutated samples, 23 (34.3%) were mutated by RAS, 33 (49.3%) by BRAF, and 11 (16.4%) by RET/PTC. In 88.2% of the cases, the mutation was confirmed in tissue sample. The presence of mutations at cytology was associated with cancer 91.1% of the times and follicular adenoma 8.9% of the time. BRAF or RET/PTC mutations were always associated with cancer, whereas RAS mutations were mainly associated with cancer (74%) but also follicular adenoma (26%). The diagnostic performance of molecular analysis was superior to that of traditional cytology, with better sensitivity and specificity, and the combination of the two techniques further contributed to improve the total accuracy (93.2%), compared with molecular analysis (90.2%) or traditional cytology (83.0%). CONCLUSIONS: Our findings demonstrate that molecular analysis of cytological specimens is feasible and that its results in combination with cytology improves the diagnostic performance of traditional cytology.

[Radiation proctitis: description of two cases refractory to pharmacological treatment]. / La proctite attinica: descrizione di due casi refrattari al trattamento farmacologico.

Radiation proctitis, is a relatively frequent complication resulting from the direct or collateral irradiation of the rectum in radiotherapy treatment for genito-urinary or anorectal malignancies. The main symptoms are diarrhoea, tenesmus, proctorrhagia, anal pain, mucorrhoea and faecal incontinence. The evolution of chronic radiation proctitis requires treatment for related anaemia, anal incontinence and micturition disorders. The approach and type of treatment depend on the severity of the symptoms and on the endoscopic aspect, in relation to the response to previous medical therapy performed. In our experience, endoscopic treatment is the best choice in the presence of ongoing bleeding and the possible development of severe anaemia. The surgical option is mandatory in patients at high risk of sepsis, requiring a faecal diversion constructed using the Hartmann technique. We report two cases, observed during the last two years, one treated with endoscopic bipolar coagulation and the other with a double urinary and faecal diversion.

[Treatment of liver metastases from colorectal carcinoma: our experience]. / Trattamento delle metastasi epatiche da carcinoma colorettale: nostra esperienza.

The latest hepatic surgical strategies enable liver resections to be performed on a larger number of patients, improving the survival rate. Moreover, the contribution of radiological techniques and chemotherapy to surgery has led to the multidisciplinary management of patients suffering from liver metastases, involving surgeons, radiologists and oncologists. If surgical treatment is not considered curative, it is appropriate to advise alternative strategies in order to down-stage the disease and make it resectable.

[Stapled transanal rectal resection (STARR) in the treatment of rectocele: personal experience]. / La S.T.A.R.R. nel trattamento del rettocele. Esperienza personale.

Rectocele is an organic cause of chronic constipation, with a prevalence ranging from 8.95% to 12% in Europe and United States. Necessarily, the approach for rectocele repair is a surgical operation. Stapled transanal rectal resection (STARR) is safe and effective in the treatment of obstructed defecation syndrome. The authors' experience suggests that the surgical operation needs to be combined to rehabilitation exercises, before and after the surgical treatment, in order to strengthen the muscles of the pelvic pavement. From January 2005 to January 2007, 20 patients with outlet obstruction underwent STARR. Patients were selected for operation based on a strict diagnostic protocol: anamnesis, clinical examination, coloproctological and urogynaecological examinations, defecography, anorectal manometry, transrectal ultrasonography and peritoneal electromyography. The therapeutic protocol consists of 3 parts: phase I: rehabilitation of the pelvic pavement; phase II: surgical operation; III phase: post-surgical rehabilitation of the pelvic pavement; The clinical result was classified into: excellent (6 patients), when all constipation symptoms disappeared, good (11 patients), when patient has 1 or 2 obstructed defecation episodes treated with a laxative, fairly good (2 patients), more than 2 episodes, and poor (1 patient), when surgical operation doesn't improve any of the symptoms. Our results, confirmed by the literature, suggest that Longo's technique should be considered as gold standard for rectocele treatment.

[Urachus' carcinoma: a case report]. / Carcinoma dell'uraco. Case report.

Urachus' carcinoma represents a rare oncologic disease with an unfavourable prognosis due to the usual delay of correct diagnosis for its anatomical localization. Its surgical treatment varies from radical cystectomy to segmentary resection of the bladder with pelvic lymphadenectomy. We report a case occurred in a ninety years old female, in which the diagnosis was achieved only at laparotomy. The patient was submitted to surgery with the only generic diagnosis of "lower abdominal mass", and treated with segmentary resection.

[Management of patients with non-functioning gastroentero-pancreatic neuroendocrine tumours]. / Management di un paziente portatore di neoplasia neuroendocrina non fiunzionante del tratto gastro-entero-pancreatico (GEP).

The Authors examine the feasibility of diagnosing non-functioning gastroentero-pancreatic neuroendocrine tumours preoperatively or intraoperatively, with particular reference to laboratory examinations and octreoscan scintigraphy, which are capable of conditioning the surgical treatment and subsequent follow-up. Of the 4 cases reported here: three presented multiple intestinal localizations, and in only one case the origin of the primitive carcinoma was undefined. The suspicion of a non-functioning neuroendocrine tumour must be considered when yellowish or ochre-coloured intestinal lesions are found intraoperatively. Determination of specific markers and octreoscan scintigraphy must be performed without awaiting histological confirmation. Surgery plays a fundamental role in the debulking of these carcinomas. However, medical therapy with the aid of specific laboratory examinations and octreoscan scintigraphy may improve the long-term survival.

[Preoperative radio-chemotherapy in the treatment of locally advanced rectal cancer]. / Radio-chemioterapia preoperatoria nel trattamento del carcinoma del retto localmente avanzato.

Rectal cancer is characterised by a substantial incidence of recurrences despite radical surgical treatment. The combination of preoperative radio- and chemotherapy has afforded functional and prognostic advantages through the prospect it offers of performing a greater number of conservative operations and the enhanced control of locoregional recurrences it allows. In our institute we treated 27 patients with locally advanced rectal cancer over the period from January 1997 to December 2002. All 27 patients underwent preoperative radiochemotherapy (45 Gy on the pelvis and 5-fluorouracil administered on the first and last 5 days of radiotherapy). The patients were then submitted to surgery consisting in 12 abdomino-perineal resections of the rectum, 14 anterior rectal resections and 1 Hartmann's resection. Tumour regression was complete in 22.22% of cases and minimal in 14.81%; 50% reduction was achieved in 22.22% and 50-80% reduction in 40-70% of cases. The toxicity was 14.91%. The incidence of local failure was 3.7% with a follow-up of 52 months. In this series, preoperative radio-chemotherapy proved to be a powerful means of downstaging the tumours and of controlling local failure.