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.

     

c-KIT positive Gastrointestinal Stromal Tumor presenting with acute bleeding in a patient with neurofibromatosis type 1: a case report

Background

Gastrointestinal stromal tumours are rare (GIST). However, the incidence of GIST among neurofibromatosis type 1 (NF-1) patients is approximately 3.9-25%. GIST can present clinically in different ways such as abdominal pain, gastrointestinal bleeding and obstruction.

Case report

We present 51 year female patient admitted with Background of neurofibromatosis type 1 admitted with melena. OGD has been done and showed duodenitis with large volume fresh blood in distal duodenum but no obvious bleeding point. Exploratory laparotomy revealed smooth nodular masses on the serosal surface of jejunum. Small bowel resection and side-to-side anastomosis were performed. Histopathoogical examination revealed small bowel gasrointestinal stromal tumour with low risk malignant potential.

Conclusion

The incidence of GIST among neurofibromatosis type 1 (NF-1) patients is not uncommon and we should pay attention to gastrointestinal manifestation in such patients.

     

Angiomatoid giant cellular blue nevus of vaginal wall associated with pregnancy

Background

Blue nevi that arise from the Müllerian tract are rare melanocytic lesions. Several histopathologic variants of cellular blue nevi have been described. The angiomatoid variant is characterized by a vascular component, and is considered to be a rare variant. Few studies have explored the influence of pregnancy on melanocytic lesions.

Case

A 29-year-old woman was presented with a pigmented vaginal lesion that increased gradually during pregnancy. A full term gynecologic examination showed a tumor mass protruding into the vaginal canal. The mass was resected during cesarean-section under the clinical impression of vaginal hemangioma.

Result

Gross examination revealed a cystic mass measuring 6.0 × 4.3 × 3.5 cm, which was filled with dark friable material. Histologically, the mass showed a subepithelial cellular proliferation of heavily pigmented dendritic melanocytes with prominent vascular stroma. Cytologic pleomorphism, junctional activity, atypical mitosis, and necrosis were not found. The proliferation was immunoreactive for HMB-45, S-100 and melan-A, and non-immunoreactive for CD34, smooth muscle actin, and AE1/AE3. The MIB-1 proliferative index was less than 1%. The patient had a postoperative course without complication.

Conclusions

Angiomatoid giant cellular blue nevus arising from the vagina during pregnancy is extremely rare. The low proliferative index and absence of cytologic pleomorphism, or necrosis, supports a benign biological behavior. Clinical follow-up showed no evidence of recurrence at one year after the resection of the mass.

     

Spontaneous regression of congenital epulis: a case report and review of the literature

Introduction

Congenital epulis is a rare lesion found on the alveolar process of a newborn child, diagnosed soon after birth. The lesion has a site predilection for the anterior maxillary alveolar process and a 9:1 sex predilection for females. Once diagnosed the traditional management of the lesion has been surgical excision under general anesthesia.

Case presentation

The purpose of this case report is to describe spontaneous regression of congenital epulis in a three week old healthy African American female child. She presented with a 1.5 cm bilobed sessile nodular lesion in the region of the right maxillary cuspid. The clinical impression was congenital epulis. Since the lesion was not interfering with feeding and respiration, a conservative approach was taken. The child was followed-up for 18 months, during which the lesion progressively regressed.

Conclusions

Conservative management prevented unnecessary surgery and anesthesia exposure in a neonate.

     

Malignant rhabdoid tumor in the renal allograft of an adult transplant recipient: a unique case of a rare tumor

Background

Renal transplant recipients have increased risk for developing malignant diseases because of immunosuppression or donor-to-recipient transmission. Malignant rhabdoid tumor (MRT) is a rare, highly aggressive and lethal tumor primarily affecting the kidney of infants and young children. MRT has not been reported in the renal allograft of an adult recipient after kidney transplantation.

Case presentation

In this report, a 47-year-old woman who received a kidney transplantation from an infant donor and developed a mass in the transplanted kidney is presented. Pathological examinations revealed a malignant tumor with rhabdoid cells morphologically and the loss of INI1 expression immunohistochemically. The diagnosis of malignant rhabdoid tumor in the transplanted kidney was made. We confirmed that donor-to-recipient malignancy transmission was the cause of MRT in the transplanted kidney by fluorescence in situ hybridization (FISH) and short tandem repeat (STR) analysis.

Conclusion

To our knowledge, this is the first case of MRT in an adult renal allograft recipient. This report highlights the importance of the criteria for selection of donors to screen possible malignant tumors transmission.

     

Pseudomyxoma extraperitonei occurring 35 years after appendicectomy: a case report and review of literature

Background

Pseudomyxoma peritonei is a rare condition consisting of mucinous ascites, most commonly arising from mucinous tumors of the appendix and occasionally from the ovary. Very rarely mucinous implants arise in the retroperitoneum without any intra-peritoneal involvement. This has been termed as pseudomyxoma extraperitonei.

Case presentation

We report a case of a 57 year old man who developed pseudomyxoma extraperitonei, 35 years after undergoing an appendicectomy for a perforated appendix.

Conclusions

Pseudomyxoma extraperitonei has been previously reported, however we report the longest incubation period of 35 years for this condition.

     

Postoperative extracranial metastasis from glioblastoma: a case report and review of the literature

Background

Glioblastoma is the most common primary malignant brain tumor. Extraneural metastases are rarely reported in the literature.

Case presentation

We report a case of a 38-year-old patient who was diagnosed with glioblastoma in 2015. Four months after surgery, local relapse was found and the patient received a second surgery. After another 4 months, we found a hard mass in the right posterior neck when she admitted to our department for fourth cycle of adjuvant chemotherapy. Immunohistochemical investigation supported the diagnosis of glioblastoma metastases to the neck after resection of the right neck mass. A few days later, spinal vertebral magnetic resonance imaging (MRI) confirmed multiple metastases in the thoracic, lumbar, sacral, and bilateral iliac bones.

Conclusions

Glioblastoma is the most common primary malignant brain tumor. Whole tumor resection and early radiotherapy and chemotherapy can delay recurrence and prolong survival. Extracranial metastases are extremely rare. We report this case with the aim of bringing attention to extracranial metastasis of brain glioma.

     

Nonlinear analysis of biomagnetic signals recorded from uterine myomas

Objective

To determine if there is any non-linearity in the biomagnetic recordings of uterine myomas and to find any differences that may be present in the mechanisms underlying their signal dynamics.

Methods

Twenty-four women were included in the study. Sixteen of them were characterised with large myomas and 8 with small ones. Uterine artery waveform measurements were evaluated by use of Pulsatility Index (PI) (normal value PI<1.45).

Results

Applying nonlinear analysis to the biomagnetic signals of the uterine myomas, we observed a clear saturation value for the group of large ones (mean = 11.35 ± 1.49) and no saturation for the small ones.

Conclusion

The comparison of the saturation values in the biomagnetic recordings of large and small myomas may be a valuable tool in the evaluation of functional changes in their dynamic behavior.

     

Renal mucinous tubular and spindle cell carcinoma: a report of 8 cases and review of the literature

Background

Mucinous tubular and spindle cell carcinoma of kidney (MTSCC-K) is a rare variant of renal tumor. The current data show most of MTSCCs are of low malignant potential and rare cases metastatic to lymph nodes have been reported; however, the recorded computed tomography (CT) and follow up data are limited.

Material and method

In the present study, we retrospectively analyzed CT and clinicopathological data of eight patients with renal MTSCC-K.

Results

A total of eight cases, including six females and two males, were included in this analysis with a mean age of 48.4 (range 25 to 81) years. Mean tumor size was 4.2 (range 2.5 to 10.0) cm. Preoperative CT demonstrated that all tumors were slightly enhanced on both corticomedullary and nephrographic phase, which was different from many other renal cell carcinomas. Three of them were treated with open radical nephrectomy, three with laparoscopic radical nephrectomy and the other two with laparoscopic partial nephrectomy. No postoperative therapy was applied. Patients were followed up for 15 to 64 months and there was no evidence of recurrence and metastasis.

Conclusions

The MTSCC-K has special clinicopathological characteristics, low degree of malignancy and relative good prognosis. The diagnosis mainly depends on the histopathological examination and CT may help to differentiate with papillary renal cell carcinoma. Surgical treatment is recommended and additional therapies are not necessary.

Virtual slides

The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/8435581771088249.

     

Graves' disease presenting as pseudotumor cerebri: a case report

Introduction

Pseudotumor cerebri is an entity characterized by elevated intracranial pressure with normal cerebrospinal fluid and no structural abnormalities detected on brain MRI scans. Common secondary causes include endocrine pathologies. Hyperthyroidism is very rarely associated and only three case reports have been published so far.

Case presentation

We report the case of a 31-year-old Luso-African woman with clinical symptoms and laboratory confirmation of Graves' disease that presented as pseudotumor cerebri.

Conclusion

This is a rare form of presentation of Graves' disease and a rare cause of pseudotumor cerebri. It should be remembered that hyperthyroidism is a potential cause of pseudotumor cerebri.

     

Maffucci syndrome and soft tissue sarcoma: a case report

Background

Maffucci syndrome, a congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, was first described in 1881, and 200 cases have been reported in the literature since then. Its etiology is unknown, there is no predilection for race or sex, and the development of lesions usually occurs in puberty. The risk of sarcomatous transformation is about 25%.

Case presentation

The initial investigation of the case reported here focused on the diagnosis and treatment of malignancy, and the first diagnostic hypothesis was thrombosed hemangioma. After histopathologic confirmation of soft tissue sarcoma, examinations were performed to stage the tumor and enchondromas were found in ribs. The final diagnosis was Maffucci syndrome with malignant transformation.

Conclusion

Treatment should aim at symptom relief and early detection of malignancies; no therapy is indicated for asymptomatic patients. As in the case reported here, bone or soft tissue lesions that grow or become painful should be biopsied.

     

Strategy for automated metabolic profiling of glioma subtypes from ex-vivo HRMAS spectra

Introduction

Infiltrating gliomas are primary brain tumors that express significant biological and clinical heterogeneity in adults, which complicates their treatment and prognosis. Characterization of tumor subtypes using spectroscopic analysis may assist in predicting malignant transformation and quantification of response to therapy.

Study objective

To implement an automated algorithm for classification of metabolomic profiles for the classification of glioma pathological grades and the prediction of malignant progression using spectra obtained by high-resolution magic angle spinning (HR-MAS) spectroscopy of patient-derived tissue samples.

Methods

237 image-guided tissue samples were obtained from 152 patients who underwent surgery for newly diagnosed or recurrent glioma and analyzed via HR-MAS spectroscopy. Orthogonal projection to latent structures discriminant analysis was used as a classifier and the variable-influence-on-projection values were evaluated to identify signature spectral regions.

Results

The accuracy of classifiers developed for discriminating glioma subtypes was 68% for newly diagnosed grade II versus III samples; 86 and 92% for new and recurrent grade III versus IV, respectively; 95% for newly diagnosed grade II versus IV; and 88% for recurrent grade II versus IV lesions. Classifiers distinguished between samples from newly diagnosed vs. recurrent lesions with an accuracy of 78% for grade III and 99% for grade IV glioma.

Conclusion

Classifying metabolomic profiles for new and recurrent glioma without prior assumptions regarding spectral components identified candidate in vivo biomarkers for use in assessing changes that are likely to impact treatment decisions.

     

Epithelial-myoepithelial carcinoma of the parotid gland,unusual malignancy radiologically simulating a benign lesion: case report

Background

Ultrasound (US), Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) are widely used in the clinical diagnosis of parotid gland tumors and their efficacy in identifying benign lesions is well documented. However, problems arise when facing some malignant lesions. Only few cases of salivary gland low grade malignant tumors have been previously reported in the literature complete with the radiological features.

Case presentation

We here describe a case of epithelial-myoepithelial carcinoma (EMC) of the parotid gland, a low grade malignant tumor, with spread to an intraparotid lymph node and with CT and MRI findings mimicking a benign lesion.

Conclusion

All the images revealed sharply outlined profiles and a homogeneous enhancement of the nodule, suggesting a benign tumor and demonstrating that a radiological evaluation of the lesion alone may be unsatisfactory and misleading in the diagnosis of salivary gland tumours, especially in the case of low grade malignant tumors, such as EMC.

     

Giant cutaneous horn in an African woman: a case report

Introduction

A cutaneous horn is a conical projection of hyperkeratotic epidermis. Though grossly resembling an animal horn, it lacks a bony core. These lesions have been well described in Caucasian patients, as well as in a number of Arabic and Asian patients.

Case presentation

A young female presented with a large 'horn' of five-year duration, arising from a burn scar. Excision and scalp reconstruction were performed. Histology was reported as verrucoid epidermal hyperplasia with cutaneous horn.

Conclusion

This may be the first documentation of this lesion in a black African. Although likely rare, it should be considered in the differential diagnosis of dermatologic lesions. Up to 40% of cutaneous horns occur as part of a premalignant or malignant lesion, and surgical extirpation with histological examination is thus more important than the curiosity surrounding these lesions.

     

Differentiation of myomas by means of biomagnetic and doppler findings

Aim

To elucidate the hemodynamics of the uterine artery myomas by use of Doppler ultrasound and biomagnetic measurements.

Method

Twenty-four women were included in the study. Sixteen of them were characterised with large myomas whereas 8 of them with small ones. Biomagnetic signals of uterine arteries myomas were recorded and analyzed with Fourier analysis. The biomagnetic signals were distributed according to spectral amplitudes as high (140–300 ft/√Hz), low (50–110 ft/√Hz) and borderline (111–139 ft/√Hz). Uterine artery waveform measurements were evaluated by use of Pulsatility Index (PI) (normal value PI < 1.45).

Results

There was a statistically significant difference between large and small myomas concerning the waveform amplitudes (P < 0.0005) and the PI index (P < 0.0005). Specifically, we noticed high biomagnetic amplitudes in most large myomas (93.75 %) and low biomagnetic amplitudes in most small ones (87.5 %).

Conclusion

It is suggested that the biomagnetic recordings of uterine artery myomas could be a valuable modality in the estimation of the circulation of blood cells justifying the findings of Doppler velocimetry examination.

     

Fertility-sparing surgery in advanced stage malignant ovarian germ cell tumor: a case report

Background

Malignant ovarian germ cell tumor is a rare type of disease, which generally has a good prognosis due to the high chemosensitivity of this type of tumor.Fertility preservation is an important issue because malignant ovarian germ cell tumor commonly affects young women. Although conservation is the standard for early stage, it becomes more debatable as the disease progresses to more advanced stages.Aim: Report the case of a patient with an International Federation of Gynecology and Obstetrics Stage IIIc malignant ovarian germ cell tumor, who had conservative surgery and chemotherapy with a good fertility outcome.

Case presentation

A 23-year-old North African woman with a left malignant ovarian germ cell tumor stage IIIc was treated by left adnexectomy and omentectomy followed by chemotherapy. A 15-year follow-up showed no signs of relapse, and she completed three full-term natural pregnancies.

Conclusions

Malignant ovarian germ cell tumor is a rare ovarian tumor with a good prognosis. It is usually associated with a good fertility outcome in early stages. However, due to the rarity of the disease in advanced stages, the fertility outcome for this group of patients is not clear. This lack of data surrounding advanced stages points to the need for a meta-analysis of all published cases.

     

Non-targeted UHPLC-MS metabolomic data processing methods: a comparative investigation of normalisation,missing value imputation,transformation and scaling

Introduction

The generic metabolomics data processing workflow is constructed with a serial set of processes including peak picking, quality assurance, normalisation, missing value imputation, transformation and scaling. The combination of these processes should present the experimental data in an appropriate structure so to identify the biological changes in a valid and robust manner.

Objectives

Currently, different researchers apply different data processing methods and no assessment of the permutations applied to UHPLC-MS datasets has been published. Here we wish to define the most appropriate data processing workflow.

Methods

We assess the influence of normalisation, missing value imputation, transformation and scaling methods on univariate and multivariate analysis of UHPLC-MS datasets acquired for different mammalian samples.

Results

Our studies have shown that once data are filtered, missing values are not correlated with m/z, retention time or response. Following an exhaustive evaluation, we recommend PQN normalisation with no missing value imputation and no transformation or scaling for univariate analysis. For PCA we recommend applying PQN normalisation with Random Forest missing value imputation, glog transformation and no scaling method. For PLS-DA we recommend PQN normalisation, KNN as the missing value imputation method, generalised logarithm transformation and no scaling. These recommendations are based on searching for the biologically important metabolite features independent of their measured abundance.

Conclusion

The appropriate choice of normalisation, missing value imputation, transformation and scaling methods differs depending on the data analysis method and the choice of method is essential to maximise the biological derivations from UHPLC-MS datasets.

     

Choroidal eye metastases from (recurrent) primary peritoneal carcinoma: case report and review of the literature

Background

Choroidal metastases from gynaecological primary are extremely rare. There is no documented case in the literature of choroid metastasis in a patient with primary peritoneal carcinoma (PPC).

Methods & Results

We describe the first case of a 54-year-old woman with a history of borderline mucinous tumour who presented 17 months later with PPC and 21 months after with recurrent disease metastatic to the eye, and review pertinent literature.

Conclusion

High index of suspicion is warranted when patients with history of primary peritoneal carcinoma present with visual complaints in order to treat and/or relieve symptomatology from metastatic eye disease.

     

Basal ganglia hemorrhage in a case report following spinal surgery

Background

Intracranial hemorrhage is a rare but potentially severe complication of spinal surgery. Most reported post-operative ICH cases consist of cerebellar hemorrhage. There are fewer reported cases of supratentorial ICH following spinal surgery.

Case presentation

A 56-year-old woman underwent spinal surgery complicated by bilateral supratentorial intraparenchymal basal ganglia hemorrhage with both intraventricular extension and subarachnoid hemorrhage in both cerebral hemispheres.

Conclusion

The occurrence of neurological deterioration post-operatively following spinal surgery should alert physicians to the possibility of intracranial hemorrhage in order to facilitate rapid and optimal management. To our knowledge, this is the first case reporting basal ganglia hemorrhage following spinal surgery. Moreover, consideration should be given to the possibility of this complication prior to recommendation of elective spinal surgery.