Pleomorphic Liposarcoma Arising in a Lipoleiomyosarcoma of the Uterus: Report of a Case With Genetic Profiling by a Next Generation Sequencing Panel.

Uterine tumors with adipocytic differentiation are very uncommon. Mature adipocytes are sometimes seen as an element of smooth muscle neoplasms, more often as lipoleiomyoma, but also in the rare lipoleiomyosarcoma. Exceptional cases have been reported of various subtypes of liposarcoma associated with uterine smooth muscle tumors with or without adipocytic differentiation. We present a case of pleomorphic liposarcoma arising in a lipoleiomyosarcoma of the uterus. Genomic profiling was performed using a validated next generation sequencing panel covering 410 common cancer genes. Alterations were identified in TP53, PTEN, RB1, FAT1 and TERT. The patient's presentation and clinical course as well as the tumor's morphologic, immunohistochemical and molecular genetic findings are reviewed.

Dermatofibrosarcoma protuberans: a rare entity and review of the literature.

Dermatofibrosarcoma protuberans (DFSP) is an uncommon malignant mesenchymal tumor. The incidence of DFSP is 0.1% of all cancers and less than 2% of all soft tissue sarcomas (STS). It can appear at any age, most commonly in individuals aged between 20 and 50 years. The usual location of DFSP is the trunk and it is limited to the dermis. Wide radical excision is the preferred surgical method for therapy of DFSP without distant metastasis. The probability of regional or distant metastases is less than 5%. Patients with positive or close surgical margins have an elevated risk of local recurrence after resection. Adjuvant radiotherapy administered either before or after the surgical treatment reduces the risk of local recurrence.

Surgical approach to the management of medullary thyroid cancer: when is lymph node dissection needed?

OBJECTIVE: Medullary thyroid cancer (MTC) is a rare and particularly aggressive type of thyroid cancer of neuroendocrine origin. It occurs in hereditary and sporadic forms and its aggressiveness is related to the clinical presentation and the type of RET mutation. METHODS: In this article, we present the criteria, as reviewed in contemporary literature, regarding lymph node dissection and radical neck dissection in patients with either sporadic or hereditary MTC. RESULTS: Early diagnosis and treatment remains the key to a 100% cure rate. CONCLUSIONS: Routine central lymph node dissection is the minimum procedure recommended for all sporadic and hereditary MTCs. Routine lateral lymph node dissection on either side is necessary when lymph node metastases are found in the central neck compartment.

Correlation between Ki67 and breast cancer prognosis.

BACKGROUND: Ki67 is an immunohistochemical proliferation marker in many types of cancer and has been widely studied among breast cancer patients mostly through retrospective studies. METHODS: The MEDLINE/PubMed database was searched for publications with the medical subject heading 'Ki 67' and the key words 'breast', 'cancer', and 'prognosis'. We restricted our search to articles published until 2012. RESULTS: In this review, we included 78 articles and abstracts that were accessible and available in English. An effort to further explain the role of Ki67 in the prognosis of breast cancer has been made. CONCLUSIONS: The debate on the prognostic role of Ki67 in breast cancer is still open, although most of the studies have established a relation between Ki67 and overall and disease-free survival. Further research should be made in order to establish Ki67 as a standard prognostic marker in breast cancer.

Lipomatous angiomyofibroblastoma: a case report of a unique vulvar mass.

BACKGROUND: Vulvar masses are commonly biopsied in the outpatient setting. They may present as clinically benign masses, but the pathological evaluation and diagnosis is important in establishing the correct management. CASE: A 41-year-old El Salvadoran woman presented with a nontender vulvar mass of over 12 years' duration that had enlarged rapidly over the past 8 months. After surgical excision, the pathologic diagnosis was a rare lipomatous variant of angiomyofibroblastoma. CONCLUSION: The lipomatous form of angiomyofibroblastoma is a very rare vulvar tumor, and to our knowledge 8 have been identified and we present the ninth. Although it is benign, there is an aggressive variant of angiomyofibroblastoma that is locally invasive and requires wide local excision to prevent recurrence.

Sentinel lymph node biopsy in breast cancer: a systematic review.

Lymphatic mapping and sentinel lymphadenectomy have become an important tool for axillary lymph node staging in women with early-stage breast cancer. Many issues such as indications, usefulness, or best method of performing a sentinel node biopsy need to be addressed. Multiple studies now confirm that sentinel lymphadenectomy accurately stages the axilla and is associated with less morbidity than axillary dissection. Blue dye, radiocolloid, or both can be used to identify the sentinel node, and several injection techniques may be used successfully. Many patient factors previously thought to affect accuracy of the procedure have now been shown to be of limited significance. This paper's main purpose is to present the pros and cons of the sentinel lymph node biopsy, and to elucidate all questions regarding to the matter by reviewing the current medical literature.

Recapitulation of ras oncogene mutations in breast cancer.

Several human breast cancer cell lines have been shown to contain mutational activation of Ras oncogenes. The goal of this review is to clarify the physiology and biochemical pathways of Ras family oncogenes in order to understand thoroughly the mechanisms behind Ras gene mutations. Ras genes are involved in the early stages of mammary oncogenesis through augmented expression of the normal p21 protein. Recognition of the mechanisms resulting in aberrant expression of Ras, as well as unveiling the influence of the Ras family gene activation in the Ras signaling pathway, should have a major impact on clarifying the oncogenetic process, possibly offering candidate therapy and prevention strategies.

Cell cyclins: triggering elements of cancer or not?

Cyclins are indispensable elements of the cell cycle and derangement of their function can lead to cancer formation. Recent studies have also revealed more mechanisms through which cyclins can express their oncogenic potential. This review focuses on the aberrant expression of G1/S cyclins and especially cyclin D and cyclin E; the pathways through which they lead to tumour formation and their involvement in different types of cancer. These elements indicate the mechanisms that could act as targets for cancer therapy.

Management of the rare entity of primary pancreatic cystic neoplasms.

Primary cystic neoplasms of the pancreas constitute a rare entity and are composed of a variety of neoplasms with a wide range of malignant potential. Approximately 90% of these lesions are serous cystic neoplasms or mucin-producing neoplasms. In contrast to serous cystadenomas which are nearly always benign, the mucinous cystic neoplasms represent a more diverse, heterogeneous spectrum of related neoplasms. Intraductal papillary mucinous neoplasms manifest a much greater latent or overt malignant potential than other cystic neoplasms of the pancreas. The various subgroups of cystic neoplasms of the pancreas are evaluated and compared through a review of current literature. No symptoms or signs are pathognomonic for the cystic pancreatic neoplasms. While identification of a cystic tumor is relatively easy, the identification of the specific tumor type may be difficult. Most investigators agree that accurate differentiation of benign from malignant neoplasms can be made only at histopathologic examination of the entire resected segment of the pancreas. Because of the low mortality and low postoperative morbidity, surgical resection is indicated in all patients with cystic tumors.

Gastrointestinal stromal tumor.

BACKGROUND: GISTs are a subset of mesenchymal tumors and represent the most common mesenchymal neoplasms of GI tract. However, GIST is a recently recognized tumor entity and the literature on these stromal tumors has rapidly expanded. METHODS: An extensive review of the literature was carried out in both online medical journals and through Athens University Medical library. An extensive literature search for papers published up to 2009 was performed, using as key words, GIST, Cajal's cells, treatment, Imatinib, KIT, review of each study were conducted, and data were abstracted. RESULTS: GIST has recently been suggested that is originated from the multipotential mesenchymal stem cells. It is estimated that the incidence of GIST is approximately 10-20 per million people, per year. CONCLUSION: The clinical presentation of GIST is variable but the most usual symptoms include the presence of a mass or bleeding. Surgical resection of the local disease is the mainstay therapy. However, therapeutic agents, such as Imatinib have now been approved for the treatment of advanced GISTs and others, such as everolimus, rapamycin, heat shock protein 90 and IGF are in trial stage demonstrate promising results for the management of GISTs.

Ischemic colitis: surging waves of update.

Ischemic colitis is the most common type of intestinal ischemia, and it represents the consequences of acute or, more commonly, chronic blockage of blood flow through arteries that supply the large intestine. Ischemic colitis is manifested through a continuum of injury and considered as an illness of the elderly. The incidence of ischemic colitis has been underestimated, because many mild cases may go unreported. Patients experience abdominal pain, usually, localized to the left side of the abdomen, along with tenderness and bloody diarrhea. Severe ischemia may lead to bowel necrosis and perforation, which results in an acute abdomen and shock, frequently, being accompanied by lactic acidosis. Although computed tomography may have indicative findings, colonoscopy is the golden standard of diagnosis. Supportive care with intravenous fluids, optimization of hemodynamic status, avoidance of vasoconstrictive drugs, bowel rest, and empiric antibiotics will produce clinical improvement within 1 to 2 days in most patients. The condition resolves completely with conservative treatment, in most cases, but late diagnosis or severe ischemia can be associated with high rates of complications and death. However, when the interruption to the blood supply is more severe or more prolonged, the affected portion of the large intestine may have to be surgically removed. The present paper aims at bringing ischemic colitis up to date, by reviewing the current medical literature and extracting the contemporary data, about its presentation, diagnosis and treatment, which is of benefit to the readership, who may encounter this potentially fatal entity.

Successful pregnancy after breast cancer therapy: dream or reality?

BACKGROUND: Nowadays, more breast cancer patients want to have children after the diagnosis of cancer. The purpose of this study is to review the possibility and risks of giving birth among women with breast cancer previously treated by chemotherapy. CASE PRESENTATION: Two young women aged 28 and 34 respectively, were treated in our clinic for breast cancer, the first (negative hormonal receptors) by surgery, chemotherapy and radiotherapy and the second (positive hormonal receptors) by surgery, radiotherapy and tamoxifen. They both became pregnant, 1 and 8 years after completion of the therapy respectively. RESULTS: Laboratory testing during pregnancy was negative in both cases and after an uneventful course each woman gave birth to a perfectly healthy child. The first patient breastfed her baby for three months, while the second one did not breastfeed her baby at all. CONCLUSION: Women undergoing chemotherapy for breast cancer can maintain their fertility and get pregnant. Previous chemotherapy for breast cancer does not present any supplementary risks for the child's mental or physical health.

Phylloides tumor of the breast: a rare neoplasm, though not that innocent.

BACKGROUND: Cystosarcoma phylloides (CP) is an extremely rare form of breast cancer with an unpredictable clinical course. The histological characteristics of this neoplasm have not proved to offer much in the estimation of prognosis of these patients. PATIENTS AND METHODS: In our clinics, in a time period of 38 years, 22 patients with cystosarcoma phylloides were treated. There were 5 cases of malignancy, 15 cases with benign tumors, and two cases histologically characterized as borderline neoplasia. Metastases were manifested in one patient. All patients were on a 5-year follow-up, except in five cases, one operated three years ago and four operated within the last two years. RESULTS: 16 of 22 patients did not present any signs of local recurrence or metastases. There were three patients that manifested local recurrence and underwent supplementary ongectomy or mastectomy and are free of recurrence ever since. One patient with metastatic CP died. CONCLUSION: Independently of its histopathological behavior, CP is a tumor difficult to be treated. Meticulous follow-up is mandatory in order to manage possible recurrence of the neoplasm.

Breast cancer incidence in Greek women in relation to ABO blood groups and Rh factor.

AIM: To investigate the correlation between breast cancer in Greek women and ABO blood groups. MATERIAL-METHODS: In 166 female patients with breast cancer factors such as blood group, histological type, family history, presence or absence of nodal and/or distant metastases were examined. These patients had similar demographic, clinical, surgical, immunohistochemical, laboratory, and follow-up data and this group is representative of general population of women in Greece. RESULTS: The ductal type of breast cancer was differentially distributed in blood groups Rh (+) (P

Mesenteric ischemia: still a deadly puzzle for the medical community.

The main goal of this article is to update etiology, epidemiology, diagnosis, treatment and outcome of the various causes of mesenteric ischemia in order to elucidate its labyrinthine clinical riddle, by reviewing the current English medical literature. Mesenteric ischemia is a quite uncommon disorder, observed in the emergency department. It is a life-threatening vascular emergency that requires early diagnosis and intervention to restore mesenteric blood flow and to prevent bowel necrosis and patient death. Consequently, it is a vital diagnosis to make because of its high mortality rate and its thorny complications. The underlying causes vary, and the prognosis depends on the specific findings during clinical examination. Vague and nonspecific clinical findings and limitations of diagnostic studies make the diagnosis a significant challenge. The prognosis of acute mesenteric ischemia of any type is grave. The complications following this medical jigsaw puzzle are also severe. Patients in whom the diagnosis is missed until infarction occurs have a mortality rate of 90%. Even with good treatment, up to 50-80% of patients die. Survivors of extensive bowel resection face lifelong disability. Despite the progress in understanding the pathogenesis of mesenteric ischemia and the development of treatment modalities, the entity remains a diagnostic challenge for clinicians. Delay in diagnosis contributes to a high mortality rate. Early diagnosis and adequate treatment can improve the clinical outcome. Even if diagnostic modalities have improved since the first successful attempts to confront effectively this clinical entity, mesenteric ischemia still remains a lethal diagnostic enigma for the medical community.

Mirizzi Syndrome: an unexpected problem of cholelithiasis. Our experience with 27 cases.

PURPOSE: Mirizzi syndrome is a rare complication of long standing cholelithiasis. The purpose of this study is to retrospectively estimate the diagnostic and treatment methods applied in patients with Mirizzi syndrome. MATERIALS AND METHODS: Our experience with 27 cases with Mirizzi syndrome is presented. They were diagnosed either by imaging techniques, or during surgical operation. All of the patients were managed surgically. RESULTS: 8 patients were diagnosed preoperatively and the rest intraoperatively. Morbidity rate after surgery was 18,5%, and mortality rate was zero. The patients presented free of symptoms three months after surgery during the follow-up. CONCLUSION: Mirizzi syndrome is rarely diagnosed preoperatively and US proved inadequate for this purpose. Surgery is the only therapy and usually provides additionally definitive diagnosis.

Clinical considerations and therapeutic strategy for sigmoid volvulus in the elderly: a study of 33 cases.

AIM: To evaluate different types of treatment for sigmoid volvulus and clarify the role of endoscopic intervention versus surgery. METHODS: A retrospective review of the clinical presentation and imaging characteristics of 33 sigmoid volvulus patients was presented, as well as their diagnosis and treatment, in combination with a literature review. RESULTS: In 26 patients endoscopic detorsion was achieved after the first attempt and one patient died because of uncontrollable sepsis despite prompt operative treatment. Seven patients had unsuccessful endoscopic derotation and were operated on. On two patients with gangrenous sigmoid, Hartmann's procedure was performed. In five patients with viable colon, a sigmoid resection and primary anastomosis was carried out. Three patients had a lavage "on table" prior to anastomosis, while in the remaining 2 patients a diverting stoma was performed according to the procedure of the first author. Ten patients were operated on during their first hospital stay (3 to 8 d after the deflation). All patients had viable colon; 7 patients had a sigmoid resection and primary anastomosis, 2 patients had sigmoidopexy and one patient underwent a near-total colectomy. Two patients (sigmoidectomy-sigmoidopexy) had recurrences of volvulus 43 and 28 mo after the initial surgery. Among 15 patients who were discharged from the hospital after non-operative deflation, 3 patients were lost to follow-up. Of the remaining 12 patients, 5 had a recurrence of volvulus at a time in between 23 d and 14 mo. All the five patients had been operated on and in four a gangrenous sigmoid was found. Three patients died during the 30 d postoperative course. The remaining seven patients were admitted to our department for elective surgery. In these patients, 2 subtotal colectomies, 3 sigmoid resections and 2 sigmoidopexies were carried out. One patient with subtotal colectomy died. Taken together of the results, it is evident that after 17 elective operations we had only one death (5.9%), whereas after 15 emergency operations 6 patients died, which means a mortality rate of 40%. CONCLUSION: Although sigmoid volvulus causing intestinal obstruction is frequently successfully encountered by endoscopic decompression, however, the principal therapy of this condition is surgery. Only occasionally in patients with advanced age, lack of bowel symptoms and multiple co-morbidities might surgical repair not be considered.

Acute abdomen due to primary omentitis: a case report.

BACKGROUND: Idiopathic segmental infarction of the greater omentum (ISIGO) is an uncommon cause of acute abdomen in children and adults and its etiology is rather vague and speculative. The clinical presentation is usually with atypical acute or subacute abdominal pain. In a number of cases radiologic imaging allows proper preoperative diagnosis and treatment. CASE PRESENTATION: We report a case of ISIGO in a 31 year old patient, who presented with acute abdominal pain, nausea, vomiting and leukocytosis. Radiologic investigation was non-specific. The patient underwent surgical resection of the infracted omentum with compete recovery. CONCLUSION: ISIGO should be considered in the differential of acute abdomen especially when presentation is atypical and all other causes have been excluded. In cases with non-specific radiologic findings, laparotomy is necessary for proper diagnosis and treatment. Surgical resection of the infracted omentum results in uneventful recovery in the majority of cases.

Wandering spleen with torsion of the pedicle.

Wandering spleen is a rare medical entity. It usually occurs at 20-40 years of age, and most cases are seen in women. Clinical diagnosis is difficult due to lack of symptoms, unless splenic torsion has occurred and clinical symptomatology of acute abdomen develops. The diagnosis can be confirmed by imaging techniques. Treatment is operative due to complications of splenic infarction. Splenopexy is the usual treatment, except for cases of splenic infarction. Splenectomy should be carried out when there is no evidence of splenic blood flow after detorsion of the spleen and in cases of excessive splenomegaly.