Giant gastrointestinal stromal tumor with predominantly cystic changes: a case report and literature review

Background

Gastrointestinal stromal tumors (GISTs) rarely present with predominantly cystic changes. Here, we report a case of giant GIST of the stomach with predominantly cystic changes in a 74-year-old female patient.

Case presentation

The tumor was 10 cm?×?15 cm in size and positive for CD117, H-caldesmon, and DOG-1. Complete surgical resection was performed without regional lymphadenectomy. The patient recovered uneventfully and no recurrence occurred.

Conclusions

The case illustrates that GIST with cystic changes should be considered in the diagnoses of hepatic and pancreatic lesions. Furthermore, immunohistochemistry with CD117, DOG1, and other molecular markers is critical for diagnosis of GIST of the stomach and facilitates optimization of treatments for GIST.

     

Malignant gastrointestinal stromal tumor presenting with hemoperitoneum in puerperium: report of a case with review of the literature

Background

Leiomysarcoma of intravascular origin is an exceedingly rare entity of malignant soft tissue tumors. They are most frequently encountered in the retroperitoneum arising from the inferior vena cava and are scarcely found to arise from vessels of the extremities. These tumors were analysed with particular reference to treatment outcome and prognosis. The aim of this article is to broaden the knowledge of the clinical course of this rare malignancy.

Method

During 2000 and 2009 twelve patients were identified with an intravascular origin of a leiomyosarcoma. Details regarding the clinical course, follow-up and outcome were assessed with focus on patient survival, tumor relapse and metastases and treatment outcome. 3 year survival probability was calculated using Kaplan-Meier method.

Results

Vascular leiomyosarcomas accounted for 0.7% of all malignant soft tissue tumors treated at our soft tissue sarcoma reference center. The mean follow up period was 38 months. Tumor relapse was encountered in six patients. 6 patients developed metastatic disease. The three year survival was 57%.

Conclusion

Vascular leiomysarcoma is a rare but aggressive tumor entity with a high rate of local recurrence and metastasis.     

Takotsubo syndrome with pulmonary embolism: a case report and literature review

Background

Takotsubo syndrome (TTS) is an acute cardiac condition with reversible heart failure which is often triggered by psychological and physical stressful events. Although pulmonary embolism (PE) was reported as a trigger for TTS, the concurrence of TTS and PE has been rarely reported, let alone that triggered by PE. Here we describe a case of a postmenopausal female presenting with symptoms similar to myocardial ischemia, which may be caused by PE, and review the available literature that may help clinicians with their practice to similar situations since no published guidelines are available.

Case presentation

An 86-year-old female was referred to the emergency department for unrelieved chest tightness, shortness of breath and back pain. Cardiac biomarkers were mildly elevated and electrocardiogram displayed pathologic Q-waves, ST-segment elevation and inverted T-waves. Unexpectedly, coronary angiography was in absence of obstructed coronary atherosclerosis or acute plaque rupture. Chest computed tomography illustrated multiple pulmonary emboli in bilateral pulmonary arteries. She had suffered from long-term right lower extremity pain and experienced a long railway journey with less activity. Both echocardiogram and cardiac magnetic resonance demonstrated regional hypokinesia of left ventricle. She received anticoagulant and diuretic therapies, three-month follow up after discharge revealed uneventful recovery without any pulmonary emboli or regional motion abnormalities, thus she was retrospectively diagnosed with TTS caused by PE.

Conclusion

TTS and PE are scarcely concurrent and PE can exert as a potential trigger for TTS. TTS is easily misdiagnosed, actively seeking possible risk factors of TTS is in favor of early diagnosis and timely intervention. TTS with PE is reversible, timely and effective treatments ensure the best possible outcome.

     

Sclerosing angiomatoid nodular transformation of the spleen in a patient with Maffucci syndrome: a case report and review of literature

Background

Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. The presence of visceral vascular lesions in this syndrome is exceedingly rare.

Case presentation

We report a 26-year-old female who was diagnosed with Maffucci syndrome along with sclerosing angiomatoid nodular transformation (SANT) of the spleen. The patient underwent a laparoscopic splenectomy. Immunostaining of the excised specimen revealed 3 distinct types of vessels in the angiomatoid nodules: CD34?/CD8?/CD31+ small veins, CD34?/CD8+/CD31+ sinusoids, and CD34+/CD8?/CD31+ capillaries, leading to the diagnosis of SANT of the spleen.

Conclusions

This case reports the first patient in the literature exhibiting the features of Maffucci syndrome along with SANT of the spleen. The spleen is probably a predilection site of visceral vascular lesions in this syndrome with a proportion of 4 out of 14. An abdominal Computed Tomography (CT) scan is recommended for any cases of abdominal discomfort. Surgical excision is usually sufficient because of the relatively benign behavior of SANT, however, a more aggressive follow-up is proposed due to the high risk of malignant transformation of enchondromas and development of other neoplasms associated with this syndrome. Further studies are required to reveal its genetic basis for comprehensive prognosis evaluation and therapeutic guidance.

     

Tailgut cyst associated with a carcinoid tumor: case report and review of the literature

We report the case of a 49-year-old woman who presented a tailgut cyst lined by a variety of epithelium including squamous, columnar and transitional. Fortuitously a microscopic carcinoid tumor expressing immunohistochemically neuroendocrine markers was identified in the cystic wall. Tailgut cysts are congenital abnormalities located in the presacrococcygeal area occurring usually in adult patients. Clinical diagnosis is difficult because they are often asymptomatic. Patients may present symptoms resulting from local mass effects or complications. The differential diagnoses include rectal duplication cysts, cystic sacrococcygeal teratomas, epidermal cysts, epidermoid cysts, anal duct or gland cysts. Magnetic resonance imaging has recently become the modality of choice to image the cyst. Malignant transformation is rare; 23 cases including 10 carcinoid tumors have been reported in the literature. To our knowledge, this is the eleventh case of carcinoid tumor arising in a tailgut cyst.     

Autoimmune progesterone dermatitis in a patient with endometriosis: case report and review of the literature

Autoimmune progesterone dermatitis (APD) is a condition in which the menstrual cycle is associated with a number of skin findings such as urticaria, eczema, angioedema, and others. In affected women, it occurs 3-10 days prior to the onset of menstrual flow, and resolves 2 days into menses. Women with irregular menses may not have this clear correlation, and therefore may be missed. We present a case of APD in a woman with irregular menses and urticaria/angioedema for over 20 years, who had not been diagnosed or correctly treated due to the variable timing of skin manifestations and menses. In addition, we review the medical literature in regards to clinical features, pathogenesis, diagnosis, and treatment options.     

Benign mixed epithelial stromal tumor of the renal pelvis with exophytic growth: case report

Background

Mixed epithelial and stromal tumor (MEST) is a distinctive benign composite neoplasm of the kidney predominantly seen in females mostly in the perimenopausal period. Although these tumors are known to arise from renal pelvis, our case was distinct in that it had no intrapelvic component growing in exophytic fashion.

Case report

A 35 year old female patient presented to us with vague abdominal pain. She had undergone excision of bilateral ovarian cystic masses for cystic teratoma twelve years earlier. A computed tomography scan of abdomen and pelvis showed a 9 × 7 cm uniformly solid mass with poor contrast enhancement situated in the inferomedial aspect of the left kidney. On exploration, the mass was arising from the inferior and anterior aspect of left renal pelvis, and was attached to it with a narrow pedicle. There was no adherence or attachment to the renal parenchyma. The mass was excised preserving the kidney. Microscopically, the tumor was composed of large collagenized areas containing bundles of spindle cells and several 'microcysts' lined by cuboidal epithelium suggestive of a benign mixed epithelial stromal tumor.

Discussion

Mixed epithelial tumors usually present in perimenopausal women as a partially cystic mass. Tumors are composed of irregular mixtures of cystic and solid areas, glands with variable complexity and distribution and the stromal component is characterized by a spindle cell proliferation. Commonly, it arises from the renal parenchyma and pelvis and nephrectomy is advocated to manage these tumors.

Conclusion

MEST is a distinctive benign tumor of the kidney that should be distinguished from other renal neoplasms. MEST arising from the renal pelvis and growing exophytically is a rare entity. The overall prognosis is favorable.

     

Anticonvulsant hypersensitivity syndrome after phenytoin administration in an adolescent patient: a case report and review of literature

Background

Hypersensitivity is a rare adverse drug reaction (ADR) associated with anti-epileptic medications. Phenytoin is one of the commonly used drugs for treatment of epilepsy that encounters a hypersensitivity reaction. This reaction can be ranged from mild cutaneous rash to anticonvulsant hypersensitivity syndrome (AHS) or drug reaction with eosinophilia and systemic symptoms (DRESS) that includes fever, rash, eosinophilia and involvement of multiple internal organs.

Case presentation

A 15 year old middle eastern female patient from Gaza strip with free past medical and allergic history. She presented to An-Najah National University Hospital (NNUH) in Nablus with intermittent high grade fever, jaundice, rash and skin peeling. On examination, she had axillary and inguinal lymphadenopathy, moderate splenomegaly and diffuse maculopapular rash. The patient was on phenytoin which started 1 month prior to her presentation as a seizure prophylaxis due to previous head injury. Eventually, the patient was diagnosed with AHS/DRESS.

Conclusions

AHS is a diagnosis of exclusion and it is significantly underreported that requires a high index of suspicion. We liked to share this case and shed the light in more details on AHS/DRESS. Our goal was to help making AHS more reported in the literature in adolescent patients, as well as to make physicians more alert of this condition’s seriousness when they prescribe antiepileptic medications in particular. In this report, we included the first case of AHS which was reported in an adolescent patient in Palestine. Moreover, we reviewed the available literature for a better understanding of the pathophysiology and management of AHS. We still believe that the full understanding of the pathogenesis of AHS is lacking, and also we are lacking a clinical tool or scoring system to determine the severity of AHS/DRESS.

     

Collision tumor with inflammatory breast carcinoma and malignant phyllodes tumor: a case report and literature review

Background

Pelvic reconstruction after hemipelvectomy can greatly improve the weight-bearing stability of the supporting skeleton and improve patients’ quality of life. Although an autograft can be used to reconstruct pelvic defects, the most suitable choice of autograft, i.e., the use of either femur or tibia, has not been determined. We aimed to analyze the mechanical stresses of a pelvic ring reconstructed using femur or tibia after hemipelvectomy using finite element (FE) analysis.

Methods

FE models of normal and reconstructed pelvis were established based on computed tomography images, and the stress distributions were analyzed under physiological loading from 0 to 500 N in both intact and restored pelvic models using femur or tibia.

Results

The vertical displacement of the intact pelvis was less than that of reconstructed pelvis, but there was no significant difference between the two reconstructed models. In FE analysis, the stress distribution of the intact pelvic model was bilaterally symmetric and the maximum stresses were located at the sacroiliac joint, arcuate line, ischiatic ramus, and ischial tuberosity. The maximum stress in each part of the reconstructed pelvis greatly exceeded that of the intact model. The maximum von Mises stress of the femur was 13.9 MPa, and that of the tibia was 6.41 MPa. However, the stress distribution was different in the two types of reconstructed pelvises. The tibial reconstruction model induced concentrated stress on the tibia shaft making it more vulnerable to fracture. The maximum stress on the femur was concentrated on the connections between the femur and the screws.

Conclusions

From a biomechanical point of view, the reconstruction of hemipelvic defects with femur is a better choice.     

Erdheim Chester disease in a patient with Burkitt lymphoma: a case report and review of literature

Background

Erdheim Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis characterized by widespread tissue infiltration by CD68-positive, CD1a-negative foamy histiocytes. ECD can be difficult to identify, and diagnosis relies on the presence of histiocytes with certain histologic and immunophenotypic features in an appropriate clinical and radiologic setting. Clinical signs and symptoms are variable depending on which organ systems are involved. Most patients have at least skeletal involvement with bone pain as well as fatigue. Other common manifestations include diabetes insipidus, cardiac, periaortic, or retro-orbital infiltration/fibrosis, kidney impairment, xanthelasmas, among others.

Case presentation

Herein, we describe a case of BRAF-mutation positive ECD in a patient with Burkitt lymphoma, and we review recent literature.

Conclusion

Underlying BRAF and other MAPK pathway mutations are identified in approximately 50% of cases of ECD, which aids in diagnosis as well as enables novel targeted treatments. ECD patients have an increased risk of myeloid neoplasms; however, unlike other histiocytoses, an association with lymphoproliferative disorders has not been recognized.

     

Solitary fibrous tumor of the kidney: a case report and review of the literature

A solitary fibrous tumor (SFT) is an unusual spindle cell neoplasm that usually occurs in the pleura but has recently been described in diverse extrapleural sites. Urogenital localization is rare, and only 19 cases of SFT of the kidney have been described. We report a case of a large SFT clinically thought to be renal cell carcinoma arising in the kidney of a 70-year-old man. The tumor was well circumscribed and composed of a mixture of spindle cells and dense collagenous bands, with areas of necrosis or cystic changes noted macroscopically and microscopically. Immunohistochemical studies revealed reactivity for CD34, CD99, and Bcl-2 protein, with no staining for keratin, S-100 protein, or muscle markers, confirming the diagnosis of SFT. This tumor is benign in up to 90% of cases. The immunohistochemical study is the key to diagnosis.     

Choroiditis in a HIV-infected patient with disseminated cryptococcal infection: A case report and literature review

BackgroundOcular involvement in AIDS patients is a common event mainly caused by inflammation or infection. Despite the high prevalence rate of cryptococcosis in these individuals, ocular features have been occasionally described.Case reportA 20-year-old Brazilian female with HIV infection recently diagnosed was admitted with a respiratory profile presumptively diagnosed as Pneumocystis jirovecii pneumonia; an ophthalmologic exam suggested choroiditis by this agent as well. She was complaining of headaches and blurred vision which led to cryptococcal meningitis diagnosis by a CSF positive India ink stain and Cryptococcus neoformans positive culture. Despite therapy based on amphotericin B plus fluconazole, her clinical state progressively worsened and the patient died one week later. At necropsy, disseminated cryptococcal infection was evidenced in several organs including eyes, which presented bilateral chorioretinitis.ConclusionsCryptococcal ocular involvement in AIDS patients has been occasionally proved among the cases already reported. Thus, the post mortem exam is still pivotal to improve the quality of the clinical diagnosis, especially in limited-resource settings.     

Carcinoid tumor of the kidney: case report and review of the literature

Carcinoid tumors are low-grade malignant tumors that arise from neuroendocrine cells. Primary renal carcinoid tumors are extremely uncommon. They seem to be more indolent than renal cell carcinomas, although metastases to regional lymph nodes, liver, and bone have been described. The presence of metastases seems to indicate a more malignant course; however, even with metastases a patient might live for 3 or 4 years. Renal carcinoid tumors should be managed by radical or partial nephrectomy, and good outcomes have been obtained for organ-confined disease after radical excision. Conventional methods of imaging are inadequate for detecting smaller carcinoids, so somatostatin receptor scintigraphy should complement computed tomography and magnetic resonance imaging when searching for occult or metastatic disease. Close follow-up after surgery is necessary.     

Renal sinus pseudolymphoma in a patient with multiple carcinomas: a case report and a brief review of the literature

The term pseudolymphoma refers to a heterogeneous group of benign reactive T-cell or B-cell lymphoproliferative processes of diverse causes that simulate lymphoma clinically and histologically but usually undergo spontaneous remission. Its pathogenesis is still unclear. The prognosis is good although some evidence suggests that pseudolymphoma may progress to lymphoma. Pseudolymphoma of the urinary tract is extremely rare. We herein report a case of pseudolymphoma of the renal sinus in a 70-year-old man, associated with a high grade urothelial carcinoma of the bladder and to a prostatic adenocarcinoma (Gleason score 6). A brief review of the literature is included. The kidney showed a well-defined, whitish soft mass which involved the renal sinus. Microscopically, the lesion of the renal sinus consisted of a proliferation of small to medium size lymphocytes (CD20 positive and Bcl-2 negative) sometimes arranged in hyperplastic follicular structures. The diagnosis was confirmed by molecular studies which showed an oligopolyclonal IgH rearrangement. To the best of our knowledge, this is the second case of pseudolymphoma with a complete molecular characterization ever described in the renal sinus and the first one associated with multiple urogenital carcinomas.     

A rare giant gastrointestinal stromal tumor (GIST) of the stomach traversing the upper abdomen: a case report and literature review

ABSTRACT: This article presents a 66-year-old woman with a huge GIST of stomach that traverses the upper abdomen. With only the predominant abdominal sign featuring a palpable huge mass, but none special physical findings and routine blood as well as biochemical markers, it could hardly judge where the mass drive from upon the images. Furthermore, many important blood vessels had a complex relationship with the mass according to radiological findings. An exploratory laparotomy revealed a huge tumor that protrude from prior wall of stomach fundus, lesser curvature of stomach side, measuring approximately 21 x 34 x 11 cm in diameter and weighing 5.5Kg. A completely resection was decided on the tumor and the department of pathology immunohistochemically characterized it (CD117, CD34, Dog-1, etc) as a GIST of stomach. Preoperatively diagnosis of GISTs is still sometimes puzzling. Hoping the presentation of this rare case and the literature review could benefit others in similar problems.     

Difficulties in diagnosis and treatment of acromegaly in a patient with a McCune-Albright syndrome. A case report and a review of literature

We describe a female patient aged 43, who at the age of five was diagnosed with polyostotic fibrous dysplasia (FD). The patient was intermittently treated in our department since the age 33, for approximately 10 years, with intravenous bisphosphonates. At the age of 42 acromegaly was diagnosed incidentally, since clinical manifestations were poor, and, if present earlier, they had been related to FD. Only retrospectively, having biochemical confirmation of GH excess, we could relate them to acromegaly. Because of the involvement of the base of the skull there was no possibility of transphenoidal surgery. Long-acting somatostatin analogues were started, but no response was observed, with IGF-1 and GH being even higher during than before treatment. After the 37-year-history of FD, the occurrence of additional endocrine disorder enabled to make diagnosis of McCune-Albright syndrome (MAS) even in the absence of two out of three classical manifestations such as café-au-lait skin pigmentation and peripheral precocious puberty in the past medical history.     

Alstrom syndrome (OMIM 203800): a case report and literature review

Hereditary chronic pancreatitis (HCP) is a very rare form of early onset chronic pancreatitis. With the exception of the young age at diagnosis and a slower progression, the clinical course, morphological features and laboratory findings of HCP do not differ from those of patients with alcoholic chronic pancreatitis. As well, diagnostic criteria and treatment of HCP resemble that of chronic pancreatitis of other causes. The clinical presentation is highly variable and includes chronic abdominal pain, impairment of endocrine and exocrine pancreatic function, nausea and vomiting, maldigestion, diabetes, pseudocysts, bile duct and duodenal obstruction, and rarely pancreatic cancer. Fortunately, most patients have a mild disease. Mutations in the PRSS1 gene, encoding cationic trypsinogen, play a causative role in chronic pancreatitis. It has been shown that the PRSS1 mutations increase autocatalytic conversion of trypsinogen to active trypsin, and thus probably cause premature, intrapancreatic trypsinogen activation disturbing the intrapancreatic balance of proteases and their inhibitors. Other genes, such as the anionic trypsinogen (PRSS2), the serine protease inhibitor, Kazal type 1 (SPINK1) and the cystic fibrosis transmembrane conductance regulator (CFTR) have been found to be associated with chronic pancreatitis (idiopathic and hereditary) as well. Genetic testing should only be performed in carefully selected patients by direct DNA sequencing and antenatal diagnosis should not be encouraged. Treatment focuses on enzyme and nutritional supplementation, pain management, pancreatic diabetes, and local organ complications, such as pseudocysts, bile duct or duodenal obstruction. The disease course and prognosis of patients with HCP is unpredictable. Pancreatic cancer risk is elevated. Therefore, HCP patients should strongly avoid environmental risk factors for pancreatic cancer.