Nikolaos Papadimitriou

Pseudomyxoma retroperitonei: report of 2 cases and review of the literature

Pseudomyxoma peritonei is a rare clinical condition that is characterized by the presence of mucinous ascitis. It is believed to originate predominately from a mucinous neoplasm of the appendix including a heterogeneous group of tumours ranging from indolentto malignant. It was first described in the late 19th century. Pseudomyxoma retroperitonei is extremely rare with only 33 cases having been reported since the first description in the middle of the 20th century. We report two additional cases of pseudomyxoma retroperitonei and present a review of the literature.

Acute respiratory failure caused by neglected giant substernal nontoxic goiter

Substernal goiter is usually defined as a goiter in which the thyroid mass has descended the plane of the thoracic inlet or if more than 50% of the thyroid mass is located below the thoracic inlet. Substernal goiters may be asymptomatic or may present with symptoms caused by compression of adjacent organs. Acute respiratory failure is rare in cases of substernal goiter. In cases of symptomatic substernal goiter the treatment is surgical by thyroidectomy. We present a rare case of a giant substernal nontoxic goiter which caused acute respiratory failure which was treated by urgent thyroidectomy through a T-incision.

Pathologic Rupture of the Spleen as the Presenting Symptom of Primary Splenic Non-Hodgkin Lymphoma

Pathologic splenic rupture is defined as the spontaneous rupture of a diseased spleen and is quite rare. It is usually associated with oncologic, infectious, and hematologic diseases and more seldom with other rare causes. Pathologic splenic rupture related to hematologic malignancy seems to be rare with only 136 cases reported from 1861 until 1996 and a few cases thereafter. Non-Hodgkin lymphoma and acute myeloid leukemia are most frequently reported followed by chronic myeloid leukemia and lymphoblastic acute leukemia. However, even in cases of non-Hodgkin lymphoma, pathologic splenic rupture as the presenting symptom of the disease is rare as is the presence of primary splenic lymphoma. Conservative treatment is not an option, while operative intervention and emergency splenectomy is the only feasible treatment. We present a very rare case of pathologic rupture of primary splenic lymphoma which was the presenting symptom of the disease.

Basosquamous Cell Carcinoma of the Anus

Cancer of the anus is a rare neoplasm in the general population and accounts for only about 1.2–2 % of gastrointestinal cancers [1–3]. Anal carcinoma usually appears in the fifth and sixth decades of life and shows a female predominance [1–3]. Regarding anatomy, anal carcinomas are divided into those occurring within the anal canal and those occurring at the anal verge [1]. The most common malignant anal tumor is squamous cell carcinoma and its variants whereas other more rare lesions include adenocarcinoma, small cell carcinoma, undifferentiated carcinoma, melanoma, lymphoma sarcoma, and perianal basal cell carcinoma [1–3]. Basal cell carcinoma is a very rare anal tumor of the anal margin representing only 0.2 % of the anorectal tumors [1, 4] and with only a few more than a hundred cases having been reported [5]. Clinically, the cancer presents usually as a slowly growing sharply marginated area with raised edges and central ulceration which can extend into the anal canal to the squamous zone [3–5]. We present a very rare case of basosquamous carcinoma of the anus and emphasize this rare aggressive variant of basal cell carcinoma and its differential diagnosis from basaloid carcinoma an aggressive variant of squamous cell carcinoma.

Primary Signet Ring Cell Anal Adenocarcinoma

Anal cancer is a rare neoplasm accounting for 1.2–2% of all digestive cancers [1, 2] but presents with an increasing incidence. The carcinoma of the anus has a female predominance and usually presents in patients at or over the age of 65 [1–3]. Epidermoid carcinoma and predominantly squamous cell carcinoma, account for more than 70% of all cancers of the anus [3], while adenocarcinoma is less common comprising for about 5–19% of anal carcinomas [3, 4]. Anal adenocarcinoma is a carcinoma of the anal canal epithelium and there are three major types: the rectal type adenocarcinoma arising from the mucosal surface, the anal gland adenocarcinoma and the adenocarcinoma associated with anal fissures and anorectal fistula, usually of the mucinous type [1, 3, 5]. Signet ring cell anal adenocarcinoma is extremely rare with only one case reported in the literature [6]. We present a case of signet ring cell adenocarcinoma (SRCA) of the anus.

Metachronous early gastric adenocarcinoma presenting coinstantaneously with complete remission of stage IV gastric MALT lymphoma.

Adenocarcinoma and lymphoma represent the two most common malignant tumours of the stomach, with both neoplasms being associated with infection by Helicobacter pylori. However, the presence of lymphoma and adenocarcinoma in the same patient is a rare entity with synchronous neoplasms being more common than metachronous types. We report a case of stage IV gastric MALT lymphoma of the gastric angle with infiltration of the bone marrow successfully treated with chemotherapy and the occurrence of metachronous early gastric adenocarcinoma of the fundus presenting 1 year after the diagnosis of the lymphoma.

Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation

Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.

Recurrent small intestine intussusception in a patient with Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is a rare hereditary autosomal dominant disease caused by a mutation of the tumor suppressor gene serine/threonine kinase 11 located in chromosome 19p13.3. It is characterized by the presence of extensive mucocutaneous pigmentation, especially of the lips and the occurrence of hamartomatous polyps throughout the gastrointestinal tract. Gastrointestinal hamartomas occur predominantly in the small intestine and can become symptomatic leading usually to intestinal obstruction and abdominal pain.We present a case of recurrent intestinal obstruction caused by small bowel intussusception treated by reduction, enterotomy and polypectomy and followed by intraoperative enteroscopy and endoscopic polypectomy.