Uncommon association of germline mutations of RET proto-oncogene and CDKN2A gene.

INTRODUCTION: Calcitonin measurement is advised in the diagnosis of thyroid nodules, as it is an accurate marker of medullary thyroid carcinoma (MTC). C-cell hyperplasia (CCH)-induced hypercalcitoninemia cannot be distinguished from that induced by MTC, unless surgery is performed. CASE: We report the clinical and biological features of a patient with a family history of cancer, including melanoma and pancreatic cancer, who had previously undergone surgery for melanoma. He presented the unusual association of papillary thyroid carcinoma (PTC), normocalcemic hyperparathyroidism, and hypercalcitoninemia with a pathological response to pentagastrin, which was histologically deemed secondary to CCH. Multiple endocrine neoplasia (MEN) 2A was diagnosed. RET gene analysis showed a p.V804M missense mutation in exon 14, a low- but variably penetrant defect found in both sporadic and MEN2A-associated MTC/CCH, and a p.G691S polymorphism in exon 11. Furthermore, the germline P48T mutation was found in the CDKN2A gene exon 1, which is known to be associated with melanoma and pancreatic cancer. The patient showed the uncommon coexistence of a germline mutation in two suppressor genes, RET and CDKN2A; this finding, deemed to be a mere coincidence, did not modify the phenotype expected by each single mutation. CCH associated with V804M RET mutation is a precancerous condition and surgery is recommended. In order to exclude MTC, surgery is advised in patients with a pathological calcitonin response to pentagastrin, in the absence of thyroid autoimmunity. CCH-induced hypercalcitoninemia can be associated with thyroid cancers other than MTC (e.g., PTC). Family history is important in scheduling specific genetic screening in high-risk patients and their relatives.

[Role of echography in the diagnosis of visceral ischemic syndrome]. / Ruolo dell'ecografia nella diagnosi della sindrome ischemica viscerale.

Personal experience of the current possibilities of ultrasonography in the diagnosis of visceral ischaemic syndrome is reported.

[Intramural diverticulosis of the gallbladder]. / Le diverticolosi intramurali della colecisti.

The authors report on 9 cases of acalculous adenomyomatosis of the gallbladder, selected to Arianoff's classification. The clinical, anatomopathological and radiological data are considered: there isn't difference concerning the clinical symptoms between adenomyomatosis and cholelithiasis; only radiological study may clarify the nature and character of these lesions. The authors conclude stressing the importance of surgical therapy because the medical therapy is only symptomatic and does not modify the natural evolution of the disease and its complications.

[Acute abdomen caused by retroperitoneal hemangiopericytoma (indications of a clinical case)]. / Addome acuto da emangiopericitoma retroperitoneale (segnalazione di un caso clinico).

The authors describe a case of acute abdomen due to retroperitoneal hemorrhage in a patient suffering from perirenal hemangiopericytoma. They emphasize the rareness of such clinical picture and the difficulties involved in the radical surgical extirpation.

[Atypical cutaneous leishmaniasis. Report of a personal case]. / Leishmaniosi cutanea atipica. A proposito di una osservazione personale.

A cause of cutaneou leishmaniosis is reported in which the similarities with ordinary dermatoses made differential diagnosis rather difficult. The patient's provenance from a endemic area and the exposed location of the lesions indicated leishmaniosis but conclusive diagnosis was only confirmed when the parasite was found in the lesion.

[Delayed intestinal cannulation in the postoperative period]. / I ritardi della canalizzazione intestinale nel post-operatorio.

550 patients given abdominal or extra-abdominal surgery in the first six months of 1980 were examined to provide data on the incidence of delayed postoperative canalisation. Both general (sex, age, physical constitution) and surgical (extent of surgery, whether the peritoneal sac was opened) factors were considered. The data collected provide information on the prophylaxis and therapy of delayed postoperative canalisation.

[Bleeding Meckel's diverticulum. Apropos of a case diagnosed by scintigraphy]. / Diverticolo di Meckel sanguinante. A proposito di un caso diagnosticato mediante scintigrafia.

Abdominal imaging after intravenous injection of 99m Tc pertechnetate is a simple diagnostic procedure to show ectopic gastric mucosa. A case of Meckel's diverticulum show by Technectium scanning is described. It is concluded that abdominal imaging is useful in the preoperative investigations for rectal bleeding.

[Scroto-perineal gas gangrene. Etiopathogenetic aspects and therapeutic prospects]. / Di una gangrena gassosa scroto-perineale. Aspetti etiopatogenetici e prospettive di terapia.

A case of scrotoperineal gas gangrene is presented. This condition is discussed as an expression of anaerobic infection and both old and new views as to its aetiopathogenesis are described. Treatment has been potentiated by the introduction of clindamycin and other particularly active drugs. It is felt that cultures should be directed to the detection of both anaerobic and aerobic germs, since the former have shown a recent tendency to reappear as causes of infection.