Type II congenital pulmonary airway malformation associated with intralobar pulmonary sequestration: report of a case and review of classification criteria.

Pulmonary congenital abnormalities are rare disorders including congenital pulmonary airway malformations (CPAM) and pulmonary sequestration (PS). CPAM is a lesion characterized by the presence of anomalous bronchiolar or acinar structures, variable in size, either cystic or not cystic. PS is generally defined as nonfunctioning lung tissue that is not in normal continuity with the tracheobronchial tree and that derives its blood supply from systemic vessels. We describe a case of a baby girl with a very rare association between CPAM type 2 and intralobar pulmonary sequestration (IPS) focusing on the cystic lesions typical of CPAM and on the lymphatic and blood vessels. The cells lining the cysts often were positive for D2-40 (oncofetal protein M2A). Lymphatic endothelial cells, positive for D2-40, were widely present in the lung parenchyma and dilated lymphatic vessels were present also in the inter-alveolar septa. Moreover, we discuss the pathogenesis of CPAM and its classification criteria.

Myxoid leiomyosarcoma of the uterus: a case report.

Only 30 cases of myxoid leiomyosarcomas (MLMS) have been reported to date. The authors describe a further case in a 66-year-old woman. The main differential diagnoses include: myxoid inflammatory myofibroblastic tumours, mixoid leiomyoma, and endometrial stromal tumours. Surgery remains the appropriate treatment. However, in spite of an aggressive surgical approach and local and systemic control, recurrences and metastasis are frequent.

Cystic gastrointestinal stromal tumors of the pancreas simulating cystoadenocarcinoma. Report of three cases and short review of the literature.

Gastrointestinal stromal tumors (GISTs) represent a distinct subset of mesenchymal tumours of the gastrointestinal tract. They are more common in the stomach and small intestine, and are characterized by the proliferation of spindle or epithelioid cells and by the expression of CD117. Extra-gastrointestinal stromal tumors are rare and only 13 cases of pancreatic GISTs have been reported in the literature, only 1 of which presented as a cystic lesion. Mutational analysis of KIT and Platelet derived growth factor receptor-α genes was performed only in two out of the 13 cases. We report 3 cases of cystic GISTs of the pancreas, radiologically mimicking a cystoadenocarcinoma. Routine histopathology and molecular characterization of the tumours have been performed. In two of them, molecular analysis showed unusual genetic alterations (the internal repeat of codon 502 and 503 in exon 9 of the KIT gene and the KIT exon 9 single nucleotide substitution c.1427G⟩T). Pancreatic GIST should be included in the differential diagnosis of both cystic and solid masses of the pancreas. The diagnosis should be accomplished by a combination of radiology, histology, immunohistochemistry and molecular biology. The evaluation of CD117 expression and the sequence analysis of KIT and Platelet derived growth factor receptor-α gene is mandatory for therapy.

Leiomyomatosis peritonealis disseminata: an additional case.

Leiomyomatosis peritonealis disseminata (PPD) is a rare smooth muscle tumour of women in the reproductive age. It is characterized by multiple small nodules on the peritoneal surface, mimicking a metastatic process. To date, about 100 cases have been reported in literature. The authors herein present an additional case consisting of multiple nodules located on the surface of the omentum, parietal peritoneum, as well as colon and rectum wall in a patient without signs of excess of estrogen, progesterone, or steroid hormones nor treated with hormones for any reason. The patient has been submitted to laparoscopic myomectomy few years ago. Microscopically, these nodules consisted of bundles of spindle-shaped smooth muscle cells (positive for smooth muscle actin, desmin, estrogen, and progesterone receptor). A brief review of the literature on the pathogenesis of the disease is also added.

Benign ulcer of the right colon clinically misdiagnosed as carcinoma: an additional case.

Benign solitary ulcer of the colon is an uncommon lesion that was originally described by Cruveilhier in 1832. Its aetiology remains unknown, and there are no pathognomonic lesions or symptoms. Diagnosis is made by exclusion; in fact, diseases such as specific infections (cytomegalovirus, campylobacter jejuni, entamoeba histolytica), common clinical conditions (acute appendicitis, diverticulitis, intestinal obstruction, inflammatory bowel disease), pharmacotherapy (non-steroidal anti-inflammatory medications, oral contraceptives, dicumarolic agents) and malignancies should be excluded. We describe the case of a 72-year-old patient admitted for acute bloody diarrhoea, originally misdiagnosed as carcinoma by colonscopy. The histological evaluation demonstrated a benign ulcerative lesion.

Pleomorphic giant cell ductal carcinoma of the breast.

Pleomorphic ductal invasive carcinoma is a very rare, high-grade breast cancer with unfavourable prognosis. It contains highly pleomorphic giant cells, which represent more than 50% of the cancer cells. One such case is described herein, focusing on its morphological, histopathological and immunohistochemical patterns. It was multicentric, oestrogen and progesterone receptor negative and epidermal growth factor receptor type 2 positive.

Lymphoepithelioma-like carcinoma of the endometrium.

Only three cases of lymphoepithelioma-like carcinoma of the endometrium have been reported to date. We present a new case in a 67-year-old woman involving an exophytic mass that caused postmenopausal bleeding. Histologically, undifferentiated carcinomatous areas were intermingled with abundant lymphoid tissue. Epstein-Barr virus was not detected in either neoplastic or lymphoid cells.

Primary linitis plastica of the right colon.

A case of primary linitis plastica of the colon is presented. This case is of interest for three reasons: the site of origin in the right colon (80% of cases reported develop distally to the splenic flexure), a biopsy previously taken from the mucosa demonstrated the presence of a signet ring cell carcinoma (endoscopic biopsies do not provide a conclusive diagnosis in the majority of cases reported) and hyaline with sparse amyloid nodules were detected in the extensive, dense fibrous tissue intermingled with tumour cells.

Undifferentiated gastric carcinoma with lymphoid stroma (lymphoepithelioma-like carcinoma/medullary carcinoma).

Undifferentiated gastric carcinoma with lymphoid stroma is a histological type of gastric cancer with favourable prognosis, microscopically characterised by nests of neoplastic epithelial cells intermingled with a dense lymphoid proliferation. Various studies have shown a close relationship between undifferentiated gastric carcinoma with lymphoid stroma and Epstein-Barr virus infection; the presence of viral DNA in tumour cell nuclei has been demonstrated using polymerase chain reaction and Epstein-Barr virus-encoded small RNA in neoplastic cell nuclei have been found using in situ hybridization. We describe two cases of undifferentiated gastric carcinoma with lymphoid stroma, one infiltrating the submucosa of the gastric body and the other invading the muscularis propria of the antrum. No lymph node neoplastic invasion was documented in either case. Epstein-Barr virus was detected in the neoplastic cell nuclei in both cases with in situ hybridization.

A rare case of primitive neuroectodermal tumor in the soft tissues of the hand.

Primitive neuroectodermal tumors of the hand are extremely rare, and only 5 cases have been described to date. Here, we report a case of a 35 year-old male who presented a progressive swelling on the palm of his right hand. Clinical examination showed a solid mass and X-ray revealed a soft tissue mass. Magnetic resonance imaging (MRI) revealed infiltrated interosseous muscles, metacarpal bones and tendons. The patient underwent surgery and the lesion was removed. On the basis of morphological, immunohistochemical and molecular biology findings, a diagnosis of primitive neuroctodermal tumor was made.