A large family with hereditary MTC: role of RET genetic analysis in differential diagnosis between MEN 2A and FMTC.

Germline mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN 2A), multiple endocrine neoplasia type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC). In the absence of biochemical and/or clinical evidence of pheochromocytoma and hyperparathyroidism, patients with MEN 2A disease display the same phenotype of FMTC disease, although prognosis and clinical management in both affected and unaffected familial members are quite different. We studied a family with hereditary MTC, whose proband was referred to us because of enlarged cervical nodes and increased calcitonin serum levels 28 years after the total thyroidectomy for MTC. Cervical node dissection was carried out and subsequently the presence of MTC metastasis was histologically confirmed. A RET genomic mutation at codon 634 (TGC-->TTC) was identified in the proband and in seven out of 19 familial members studied. Accordingly, a hereditary disease was suggested. However, the strong association of RET mutation at codon 634 with the presence of pheochromocytoma in MEN 2 disease suggested a more rigorous management in all gene carriers. Indeed, during the follow-up pheochromocytoma was subsequently identified in the proband. This finding suggests that all families with a pedigree suggestive of FMTC should be regarded at risk from MEN 2A disease, at least when a critical mutation in the RET cysteine domain is detected.

Fatal ulcerative panenteritis following colectomy in a patient with ulcerative colitis.

A 37-year-old man, previously submitted to colectomy for ulcerative pancolitis unresponsive to medical therapy, presented with nausea, vomiting, epigastric pain, and bloody diarrhea. An upper gastrointestinal endoscopy revealed mucosal friability, petechiae, and erosions throughout the duodenum, whereas prestomal ileum showed large ulcers and pseudopolyps. Histologically, a dense inflammation chiefly composed of lymphocytes and plasma cells with few neutrophils was detected. No bacteria, protozoa, and fungi could be detected. Despite intensive care, intra-1194 venous antibiotics and steroids, the patient died of diffuse intravascular coagulation and multiorgan failure. At post-mortem examination severe ulcerative lesions were observed scattered throughout the duodenum up to the distal ileum. The dramatic clinical presentation with fatal outcome, the widespread ulcers throughout the intestine, and the histological picture are peculiar features in our patient which can not be ascribed to any type of the ulcerative jejunoenteritis so far reported. Patients with pancolitis and diffuse ileal involvement do not necessarily have Crohn's disease but rather may have ulcerative colitis.

[Radio-surgical-histological procedure in the diagnosis and management of non-palpable breast lesions, suspected from mammography: experience of "Casa Sollievo della Sofferenza" Hospital in San Giovanni Rotondo]. / La procedura radio-chirurgico-istologica nella individuazione e diagnosi delle lesioni impalpabili della mammella, sospette alla mammografia: l'esperienza dell'Ospedale "Casa Sollievo della Sofferenza" di San Giovanni Rotondo.

The almost 4-year long experience of the IRCCS--"Casa Sollievo della Sofferenza" hospital (FG, Italy) dealing with 165 nonpalpable breast lesions mammographically detected is herein presented. According to a protocol based on the previously as well as relatively recent described guidelines for the clinico-pathological management of such lesions, the authors underline the necessity of a strict cooperation between the radiologist, the surgeon and the pathologist. They also emphasize the perspectives derived from such a new impact, among which the most impressive is the handling and sampling of this relatively new type of material with lesions which only rarely are grossly palpable ("pseudononpalpable lesions"), whilst often they are truly non palpable being of minute sizes ("microlesions") and even grossly "invisible" ("quasi-normal fibrofatty tissue"). Of note as consequences derived from the strict adherence to this type of protocol which anyone should adhere to there are also a decrease of frozen section diagnoses, a global increase in the surgical pathology lab workload, the ban for taking away any tissue from the lesion or from the area of concern for special studies, the technical approach to the identification of microcalcifications when they are present, the new questions & answers concerning with the completeness and the adequacy of excision, the state of surgical margins of the excised specimens, and the possible existence of residual in situ or infiltrating disease. The results herein presented area in consonance with those from other institutions so confirming the high incidence both of borderline lesions and in situ malignancies (overall incidence around 28%) and of the early and minute invasive cancers (44%) usually of favourable histological types, among truly nonpalpable breast lesions.

Splenic abscess secondary to penetrating gastric ulcer.

Splenic abscess is a rare disease whose diagnosis is difficult, though the use of modern imaging methods has increased diagnosed cases in recent years. We report a case of splenic abscess whose aetiology is unusual, namely, a gastric ulcer penetrating into the splenic artery and causing arterial thrombosis and septic embolism. Ultrasonography and ultrasound-guided puncture resolved any diagnostic doubt, and subsequent surgery confirmed the diagnosis. Pathogenesis, clinical picture, diagnostic methods, and treatment are discussed with reference to the literature.

[Preliminary results of preoperative radiotherapy schedule in the treatment of rectal tumors]. / Risultati preliminari di un protocollo di radioterapia preoperatoria nella cura dei tumori del retto.

From March, 1988, to October, 1993, fifty-six consecutive patients with rectal adenocarcinoma in clinical stage T3NxM0, underwent preoperative radiation therapy at the "Casa Sollievo della Sofferenza" Hospital of San Giovanni Rotondo (Italy). The patients were treated with the four-field technique with 6 to 8 MV X photons on the pelvis. The dose given was 36 Gy in 12 fractions of 3 Gy each. Surgery was performed 2-3 weeks after completion of radiotherapy. Six patients were excluded from this study for metastatic involvement of the liver found at surgery. 48% of 50 assessable patients underwent abdominoperineal resection and 52% anterior resection. 68% of patients were in pathologic stage pT0-3 pN0 and 32% in pT0-3 pN1-2. Metastatic nodes were found in 16 patients (32%) (11 pN1 and 5 pN2). 4% of patients achieved a complete response. The follow-up ranged 24 to 91 months (mean: 46 months). None of the 50 patients died during the postoperative period and the specific morbidity was 26%. Side-effects, requiring surgery, were found in 4% of patients (1 retroperitoneal fibrosis and 1 small bowel occlusion). The incidence of local relapse was 8%. The overall survival at 5 years, in all stages, calculated with the Kaplan and Meyer method, was 76.5%. The disease-free survival rate was 81.1% in all stages: 94.1% in pT0-3 pN0 patients and 54.1% in pT0-3 pN1-2 patients. The disease-free survival rate related to nodal involvement was 72.7% in pN1 patients and 20% in pN2 patients. Our experience confirms the effectiveness of preoperative radiation therapy to improve local control in rectal cancer patients. In the future, it will be useful to assess the impact on prognosis of the schedules using chemotherapy, different fractionation of radiotherapy, delayed surgery and biological predictors of response to irradiation.

Plasma cell granuloma of the thyroid associated with Hashimoto's thyroiditis.

A patient was diagnosed with plasma cell granuloma (PCG) of the thyroid associated with a fibrous variant of Hashimoto's thyroiditis (HT), after total thyroidectomy. Immunoperoxidase staining of the mass in the left lobe revealed polyclonal lambda and kappa chains. A literature search was conducted to determine other cases of such an association. Five other cases of PCG of the thyroid were found in the literature. None of them was associated with HT. This case-report confirms the possible association of HT with either plasmacytoma or PCG, previously only hypothesised.

[Surgical treatment of primary carcinoma of the female breast in geriatric age. Retrospective studies of 190 cases]. / Il trattamento chirurgico del carcinoma primitivo della mammella femminile in età geriatrica. Studio retrospettivo di 190 casi.

On the basis of a review of 190 cases of breast cancer in elderly patients, the Authors discuss clinical and anatomopathological features for a proper surgical strategy. After an accurate evaluation of the operative risk and stage of the neoplastic disease, conservative surgical techniques or as less demolitive as possible, i.e. quadrantectomy with axillary lymphadenectomy, Madden or Patey's modified mastectomies, with respect for oncological radicality, are recommended in the elderly. The importance of an early diagnosis in reducing the frequency of locally advanced neoplasms (typical in the elderly) which if operable require Halsted's procedure, is furthermore emphasized.

[Inflammatory pseudotumor of the breast. Report of a case and review of the literature]. / Lo pseudotumore infiammatorio della mammella. Osservazione di un caso e revisione della letteratura.

Inflammatory pseudotumor (IPT) truly represents an enigmatic entity. A tumor-like lesion known with many synonyms according to the various patronymic authors who named it on the basis of the different observed morphological appearances. Among these names plasma cell granuloma, plasma cell/histiocytoma complex, xanthomatous pseudotumor, xanthoma, fibrous xanthoma, histiocytoma, xanthogranuloma, inflammatory myofibroblastic tumor, inflammatory myofibrohistiocytic proliferation are just the most renown. The enigma consists in the fact that it can easily be misunderstood as a sarcoma with a marked inflammatory component just as reciprocally an inflammatory sarcoma can be misinterpreted as an IPT. As it was not enough some authors believe that some so-called IPT actually represent or may evolve into a true neoplastic process. For this reason a big debate has been raised concerning the biologic behaviour of this entity and a sense of scepticism often surrounds pathological diagnoses termed under this rubric. The predominant pattern is that of a plasma cell infiltration with a definitely histiocytic component and mostly bland spindle shaped cells which occasionally can look somewhat atypical, and can form fascicles in some areas. Anyway putting apart diagnostic misinterpretations, IPT pathogenetically is intended as the result of an inflammatory process mediated locally by an inappropriate production of monokines. It has been described in many different anatomic visceral and somatic sites, from the classical ones such as soft tissues and retroperitoneum to the most unusual such as nervous system and its covering to the most recently observed such as skin or lymph nodes or salivary glands. Breast is definitely an exoteric site of location of such kind of lesion. Only one case has previously been described. This case regards a lady aged 38 years which was locally treated by surgical excision: this case aside the standard microscopic examination was also studied immunohistochemically including proliferation markers (Ki-67/MIB-1) and on flow cytometry which are helpful means to confidently diagnose such entity. The differential diagnoses and diagnostic difficulties concerning the correct interpretation of this lesion are dealt with.

[Primary splenic cysts. Report of 5 cases, 4 of which unpublished and review of the literature]. / Cisti spleniche primitive. Presentazione di cinque casi di cui quattro inediti e revisione della letteratura.

After a complete review of the literature with an amount of 280 previously reported cases, the authors report on five total cases of primary (true) cysts of the spleen one of which already published. All these cases occurred in pediatric age and were treated by total splenectomy. All were large solitary cysts (size ranged from 4.5 up to 15 cm) but one, the largest of which in addition to the main cavity exhibited some more microscopic cysts of the same type few mm sized. Three of them were lined on their inner surface by a multilayered squamous epithelium, which in one case was also keratinized. The other two cysts showed a single layered epithelium which appeared flattened in one case, cubic in the other one. The discussion concerns the pathogenetic mechanisms which can lead to cyst formation, the imaging diagnosis of these rare lesions prior to surgical intervention, their treatment, and the correct histological recognition of these true cysts versus secondary (false) cysts or pseudocysts which commonly occur following trauma. One of the cases herein presented qualifies as a "pseudo-pseudocysts" due to the fact that a history of trauma was on record and to the fact that almost the entire epithelium was mechanically lost due to hemorrhage which filled the cyst cavity.

Renal oncocytoma: a clinicopathologic study of a case with review of the literature.

A peculiar case of renal oncocytoma was studied by clinical, light- and electron-microscopic examinations. The neoplasm, which was first discovered 21 years ago, at operation turned out to be very large, well-circumscribed and lacking any feature of aggressiveness. Histologically, it was composed totally of oncocytes without relevant atypia or necrosis. Ultrastructurally, a cytoplasmic filling by mitochondria with paucity of other organelles and filaments also supported the diagnosis. The authors also reviewed the literature and emphasized the diagnostic criteria of this type of tumor.

Leukocytoclastic vasculitis of the colon.

Two cases of young patients with an acute abdomen caused by a necrotizing angiitis of the cecum and ascending colon are reported. The absence of any systemic disease and a history of medical treatment in both cases led to the diagnosis of hypersensitivity vasculitis by a serum sickness-like reaction. An extensive review of the literature is also presented.