S Licheri

Cellular fibrous histiocytoma of the skin: Evidence of a clonal process with different karyotype from dermatofibrosarcoma

Recently, a distinct variant of cutaneous fibrous histiocytoma (FH) has been histologically characterized as a “cellular” subtype. This variant is often mistaken for sarcoma, including dermatofibrosarcoma protuberans. We report a case of cellular FH of the skin in which the cytogenetic analysis demonstrated a novel chromosome pattern, possibly allowing distinction from its histologic simulants. Genes Chromosom. Cancer 18:314–317, 1997.

Diagnosis and treatment of symptomatic right paraduodenal hernia: report of a case

We report a typical case of right paraduodenal hernia (RPH) and review the literature on the pathogenesis, diagnosis and treatment of this uncommon entity. A 32-year-old woman was hospitalized with acute abdominal cramps, nausea, and vomiting. Computed tomography (CT) findings suggested RPH, which was confirmed by explorative laparoscopy. We performed an open repair by suturing the orifice after reducing the hernia. At her 2-year follow-up, the patient reported complete resolution of her symptoms. Because RPH is rare and its clinical signs are nonspecific, radiological examinations are essential for a correct preoperative diagnosis. CT is currently the most accurate diagnostic tool, but laparoscopy may be necessary to confirm the diagnosis. This hernia can be repaired by simple suturing of the hernial orifice, either laparoscopically or via an open procedure, although several authors consider complete intestinal derotation to be the best option.

Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association?

BackgroundDiagnosis of multiple endocrine neoplasia type 1 (MEN1) is commonly based on clinical criteria, and confirmed by genetic testing. In patients without known MEN1-related germline mutations, the possibility of a casual association between two or more endocrine tumors cannot be excluded and subsequent management may be difficult to plan. We describe a very uncommon case of functioning glucagonoma associated with primary hyperparathyroidism (pHPT) in which genetic testing failed to detect germline mutations of MEN-1 and other known genes responsible for MEN1.Case presentationThe patient, a 65-year old woman, had been suffering for more than 1 year from weakness, progressive weight loss, angular cheilitis, glossitis and, more recently, skin rashes on the perineum, perioral skin and groin folds. After multidisciplinary investigations, functioning glucagonoma and asymptomatic pHPT were diagnosed and, since family history was negative, sporadic MEN1 was suspected. However, genetic testing revealed neither MEN-1 nor other gene mutations responsible for rarer cases of MEN1 (CDKN1B/p27 and other cyclin-dependent kinase inhibitor genes CDKN1A/p15, CDKN2C/p18, CDKN2B/p21). The patient underwent distal splenopancreatectomy and at the 4-month follow-up she showed complete remission of symptoms. Six months later, a thyroid nodule, suspected to be a malignant neoplasia, and two hyperfunctioning parathyroid glands were detected respectively by ultrasound with fine needle aspiration cytology and 99mTc-sestamibi scan with SPECT acquisition. Total thyroidectomy was performed, whereas selective parathyroidectomy was preferred to a more extensive procedure because the diagnosis of MEN1 was not supported by genetic analysis and intraoperative intact parathyroid hormone had revealed “adenoma-like” kinetics after the second parathyroid resection. Thirty-nine and 25 months after respectively the first and the second operation, the patient is well and shows no signs or symptoms of recurrence.ConclusionsDespite well-defined diagnostic criteria and guidelines, diagnosis of MEN1 can still be challenging. When diagnosis is doubtful, appropriate management may be difficult to establish.