Factor VII Deficiency in Systemic Mastocytosis with an Associated Myeloid Neoplasm.

Factor VII (FVII) deficiency is a rare bleeding disorder that can be classified as congenital or acquired, and the majority of acquired cases are due to vitamin K deficiency or liver disease. Isolated acquired FVII deficiency is a rare occurrence and has been associated with inhibitors or auto-antibodies. Here, we describe a patient with polycythemia vera who developed systemic mastocytosis and FVII deficiency simultaneously. FVII deficiency was not caused by inhibitors and improved with antineoplastic treatment. Acquired FVII deficiency has been reported in cases of sepsis, possibly due to proteolytic degradation induced by the activation of monocytes or endothelial cells. Malignancies have been shown to cause a depletion in circulating FVII through the direct binding of cancer cells. This case report suggests a potential association between SM associated with a hematological neoplasm (SM-AHN) and acquired FVII deficiency. Further evaluations are recommended in patients with systemic mastocytosis to gain a better understanding of the relationship between pathological mast cells and clotting factor concentrations.

Pure red cell aplasia and amegakaryocytic thrombocytopenia in thymoma: The uncharted territory.

Association between thymoma and pure red cell aplasia is already well-documented in literature whereas acquired amegakaryocytic thrombocytopenia is rarely reported. In this case, even with the addition of eltrombopag to standard immunosuppression, the cytopenias did not improve, probably due to the lack of surgical resection of the tumor.

Early Arising Sarcoma After Adjuvant Radiotherapy for Oral Squamous Cell Carcinoma.

Radiation-induced sarcoma of the head and neck (RISHN) is a rare and long-term complication of radiation therapy (RT). This report describes a case of RISHN characterized by early and insidious onset. An 80-year-old man was surgically treated for advanced oral squamous cell carcinoma of the left retromolar trigone (pT4aN0). Sixteen months after completion of adjuvant RT, an exophytic sessile lesion arose in the left border of the soft palate. Histologic assessment showed a malignant neoplasm with spindle-shaped cells and areas of bone matrix without perivascular or perineural invasion; such features in addition to immunohistochemical assessment (negative for pan-cytokeratin; positive for vimentin; negative for epithelial membrane antigen; negative for p63; Ki-67, 30%) are consistent with poorly differentiated sarcoma (cT1aN0M0). Fifteen months after a wide surgical resection, the patient was free of disease. RISHN is usually an aggressive neoplasm with insidious onset. Nevertheless, early diagnosis followed by complete surgical excision could make the prognosis comparable to that of spontaneous sarcoma.

Diffusion-weighted MRI in a case of nonsuppressing rebound thymic hyperplasia on chemical-shift MRI.

Rebound thymic hyperplasia (RTH) generally retains the quadrilateral or triangular shape typical of the normal thymus. Nevertheless, RTH may rarely appear as a focal mass, a condition that mimics tumors if reveals soft tissue attenuation at computed tomography (CT). In such cases, chemical-shift magnetic resonance imaging (MRI) can demonstrate microscopic fat within tissue, that would be indistinct at CT, by showing signal suppression on opposed-phase images relative to in-phase images, although two cases of nonsuppressing thymus have been described in early adulthood, both of them with minimally fat amount at histology, but none with RTH. Albeit diffusion-weighted MRI could be helpful in cases of nonsuppressing RTH at chemical-shift MRI, considering its capability in differentiating benign from malignant lesions, currently, no data are available on its use in such cases. Hereby, we report a case of atypical RTH at CT with no signal suppression on chemical-shift MRI, arose after corticosteroid treatment for mixed cryoglobulinemia in a 60-year-old woman. Diffusion-weighted MRI demonstrated unrestricted diffusion, as generally seen for benign tissue with no cellular atypia, and thus was helpful to differentiate RTH from malignant mediastinal tumors, especially from B cell lymphoma related to type II cryoglobulinemia.

Chemical-shift and diffusion-weighted magnetic resonance imaging of thymus in myasthenia gravis: usefulness of quantitative assessment.

OBJECTIVES: The objective of this study was to prospectively investigate the usefulness of chemical-shift and diffusion-weighted (DW) magnetic resonance imaging (MRI) in patients with myasthenia gravis (MG) for distinguishing thymic lymphoid hyperplasia (TLH), normal thymus (NT), and thymoma (THY) by using the signal intensity index (SII) and the apparent diffusion coefficient (ADC). MATERIALS AND METHODS: We examined 87 subjects (44 males, 43 females; range, 15-71 years) with generalized MG and antibodies to the acetylcholine receptor seropositivity who underwent surgery. They were divided into a TLH/NT group (A, 64 patients; TLH, 49; NT, 15) and a THY group (B, 24 patients; nonadvanced THY, 15; advanced THY, 9) on the basis of histological findings. One patient with contemporary findings of TLH and nonadvanced THY at histology was listed in both groups (87 subjects, 88 findings). Chemical-shift MRI (CS-MRI) was performed with dual-echo acquisition, and the SII was measured for each subject. Diffusion-weighted MRI was performed at b values of 0, 150, 500, and 800 s/mm, and the ADC value was obtained on the ADC map after excluding the 0-s/mm b value diffusion weighting. All measures were performed independently by 2 radiologists, and interreader agreement was assessed by calculating the intraclass correlation coefficient. Differences on SII and ADC levels between the groups and subgroups were tested using the Student t test. Logistic regression models were estimated, and discrimination abilities were individuated according to the area under the receiver operating characteristic curve (AUROC). The optimal cut points for the differentiation of the groups and subgroups were obtained by using the Youden index. RESULTS: The interreader agreement was excellent (intraclass correlation coefficient: SII, 0.998; ADC, 0.944). For CS-MRI, the mean (SD) SII value was significantly different between the groups (A, 36.37% [12.60%]; B, -0.06% [3.85%]; P < 0.001). No overlap in indexes was found with sensitivity, specificity, and cut point of 100%, 100%, and 6.37%, respectively. Conversely, the mean SII value was not different between the subgroups of each group (A, P = 0.607; B, P = 0.252). For DW-MRI, the mean (SD) ADC values were significantly different between the groups (A, 1.92 [0.21] × 10·mm/s; B, 1.36 [0.33] × 10 mm/s; P < 0.001) and between the subgroups of group A (TLH, 1.86 [0.17] × 10 mm/s; NT, 2.10 [0.23] × 10 mm/s; P = 0.002), although overlapped values were found. The AUROC of ADC in discriminating TLH/NT from THY was 0.931 (95% confidence interval, 0.863-0.998), and the optimal cut point for this distinction was 1.625 × 10 mm/s (Youden index, J = 0.760) with sensitivity of 96.8% and specificity of 79.2%. For the subgroups of group A, the AUROC of ADC in discriminating NT from TLH was 0.794 (95% confidence interval, 0.666-0.923), and the optimal cut point for this distinction was 2.01 × 10 mm/s (Youden index, J = 0.458) with sensitivity of 66.7% and specificity of 79.2%. CONCLUSIONS: CS-MRI and DW-MRI are both useful tools for examining patients with MG. The SII is more accurate than the ADC to differentiate TLH and NT from THY (AUROC, 1.000 and 0.931, respectively). Furthermore, the ADC is a noninvasive parameter that could be used for distinguishing TLH from NT, which is useful in selecting patients for surgery because, for nonthymomatous MG, acceptable rates of complete stable remission after thymectomy are found in TLH but not in NT.

Imaging of benign solitary fibrous tumor of the pleura: a pictorial essay.

Solitary fibrous tumor of the pleura (SFTP) is a mesenchymal tumor that tends to involve the pleura, and is also described in other thoracic and extrathoracic sites. SFTP usually presents as a peripheral mass abutting the pleural surface, to which it is attached by a broad base or by a pedicle that allows it to be mobile. SFTPs exist in benign and malignant forms. A precise pre-operative diagnosis can be arrived at with a cutting-needle biopsy, although most cases are diagnosed with postoperative histology and immunohistochemical analysis. In this pictorial essay, we review a large series of cases, with emphasis on the radiographic appearance of these lesions and their findings from computed tomography, magnetic resonance imaging, ultrasonography and positron emission tomography.

Increased neuroendocrine cells in resected metastases compared to primary colorectal adenocarcinomas.

Neuroendocrine differentiation has been described in rectal adenocarcinomas receiving neoadjuvant therapy prior to radical surgery, but its clinical relevance is controversial and no data are currently available in colorectal carcinoma metastases as compared to primary tumors. The presence of chromogranin A positive tumor cells was investigated by means of immunohistochemistry on surgical specimens from 54 primary colorectal carcinomas and their corresponding metastases, resected at diagnosis or during tumor progression. In 47 patients, tumor metastases were resected 1 month to 12 years after chemotherapy and/or radiotherapy, while in the remaining seven patients no additional therapy after primary surgery was performed. In primary tumors, neuroendocrine differentiation was found in 12/54 cases (22.2%) as compared to 25/54 metastatic lesions (46.3%; p = 0.01). The presence of neuroendocrine phenotype was not correlated with any clinical pathological parameter nor with a different proliferation index. However, patients having neuroendocrine cells in the primary tumor had a significantly shorter survival from the time of metastatic spread than those having not (33.3 vs. 55.5 months; p = 0.04). In summary, our data show that colorectal carcinoma metastases contain a higher percentage of neuroendocrine differentiated cells as compared to their corresponding primaries, a finding possibly related to the influence of chemotherapy in neuroendocrine differentiation during colorectal carcinoma progression.

Diagnostic accuracy and complication rate of CT-guided fine needle aspiration biopsy of lung lesions: a study based on the experience of the cytopathologist.

BACKGROUND: CT-guided transthoracic needle biopsy is a well-established technique for the diagnosis of focal lung lesions. Fine needle aspiration biopsy (FNAB) requires the presence of a cytopathologist on-site to assess the adequacy of samples. For this reason FNAB is less and less used, and core biopsy is the first-line procedure when an experienced cytopathologist is not immediately available. PURPOSE: To evaluate the accuracy and complication rate of CT-guided FNAB of lung lesions according to the experience of the cytopathologist on-site. MATERIAL AND METHODS: A total of 321 consecutive biopsies were considered. Immediate cytological assessment was performed by an experienced cytopathologist for the first 165 procedures (group A) and by two training pathologists for the remaining 156 biopsies (group B). At the time of FNAB the pathologist assigned a semiquantitative score (0-3) to each specimen to assess its diagnostic quality. All variables between the two groups were analyzed by chi-square and Student's t test. A P value <0.05 was considered statistically significant. RESULTS: For all procedures, overall diagnostic accuracy was 80% for cytology alone, with no statistical difference between the two groups for diagnostic accuracy and sample score assigned. In all, 75% of the cytological samples (75% group A, 74% group B) obtained a higher score with a specific diagnosis of histotype. A post biopsy pneumothorax was detected in 27% of biopsies (25% group A, 28% group B). Thirteen patients (4.0%) required chest tube insertion for treatment. For all cases, the pneumothorax rate was significantly affected by the number of samples obtained (P=0.02), but not by the pleural punctures (P=0.15). There was no statistically significant difference between the two groups concerning the number of needle passes and complication rate (P>0.05). CONCLUSION: The efficacy and safety of CT-guided FNAB is not significantly affected by the training level of the cytopathologist on-site. Moreover, the number of specimens obtained for each procedure is a risk factor for pneumothorax.

Gastric vascular lesion: a case report.

Arteriovenous malformations of the gastrointestinal tract are a known but rare cause of bleeding. Those of the stomach are the rarest if compared with other causes of gastric bleeding. The aetiology is still unknown, but senile age is considered an important cause, as are the degenerative processes connected with old age. These lesions are diagnosed by endoscopy which, with a haematostatic intent, often is not sufficient to stop the bleeding. Angiography is necessary for patients with massive bleeding whose endoscopy results are negative. The surgical treatment of gastric arteriovenous malformations requires excision of the lesion and part or all of the stomach. We report the case of a 57-year-old patient admitted to the Casualty Department with haematemesis and anaemia caused by acute gastric bleeding.

Acute abdomen as an unusual presentation of hepatic PEComa. A case report.

Perivascular epithelioid cell (PEC) tumors (or PEComas) are myomelanocytic lesions defined by coexpression of melanocytic and muscle markers, suggesting dual differentiation. They are rare mesenchymal tumors and include subtypes with distinct clinical features: angiomyolipoma, lymphangioleiomyomatosis, and clear cell "sugar" tumors of the lung, pancreas and uterus. Consequent upon the World Health Organization's recognition of PEC-derived tumors as a distinct entity, an increasing number of reports has documented PEComas arising at various anatomical locations. Clear cell myomelanocytic tumors of the falciform ligament/ligamentum teres (CCMTs) represent a rare variant of the PEComas. These hepatic PEComas, different from angiomyolipoma of the liver, pose a clinical, radiological and morphological diagnostic challenge. Because of their rarity, the clinical features and biological behavior of these tumors have yet to be established. We experienced our first case of CCMT in a 36-year-old woman who presented to our emergency department with a 3-day history of abdominal discomfort and progressive growth of an epigastric bulk. Intralesional hemorrhage was causing abdominal distension, which progressed to acute abdomen soon after. The hemoglobin concentration was 9.9 g/dL. Liver laboratory tests showed slight elevation of AST, ALT and gamma-GT. The alpha-fetoprotein level was not elevated. The radiological images showed a hemorrhagic mass with some bizarre features in left hepatic lobe, immediately adjacent to the ligamentum teres and falciform ligament. The patient underwent a left hepatic lobectomy. The diagnosis of CCMT was based on histological and immunohistochemical staining. The postoperative course was uneventful. The patient received no adjuvant treatment and is currently, 34 months after surgery, alive and disease free. In this report we describe a peculiar and hitherto undescribed clinical presentation of this tumor and its further course. Moreover, we discuss previously undescribed diagnostic imaging. We recommend that all unusual carcinomas and mesenchymal tumors of the liver should be tested for HMB-45: when positive, there is a high likelihood of PEComa.

Basaloid adenocarcinoma. A new variant of pulmonary adenocarcinoma.

The 2004 WHO classification of lung tumours recognised basaloid carcinoma as a variant of squamous and large cell carcinoma. We report a unique case of primary pulmonary adenocarcinoma with a basaloid component. An 82-year-old man underwent pulmonary lobectomy for a 2.8 cm tumour. The patient is disease-free 13 months after diagnosis. Histologically, an invasive carcinoma having a glandular and a solid component was observed. The former was an adenocarcinoma with mucus containing spaces lined by columnar mucinous cells and basaloid cells. The solid component was an organoid proliferation of basaloid-type cells, as in cutaneous basal cell carcinoma. Basaloid cells, but not mucinous cells, were immunoreactive for high molecular weight cytokeratins (CK), CK 7 and, focally, for TTF-1. High Ki67 index, p53 and EGFR expression were also found. This tumour is unique in several respects: (1) The solid areas resemble a conventional basaloid carcinoma, except for the presence of small mucin-containing spaces. (2) The mucinous adenocarcinoma areas contain two layers of columnar and basaloid cells. (3) Both components are neoplastic based on cell morphology, invasive properties and phenotypic profile. These findings indicate that a basaloid variant of adenocarcinoma is also existing in the spectrum of basaloid carcinomas of the lung.

Unusual oral manifestations and evolution in glycogen storage disease type Ib.

Glycogen storage disease type Ib is a rare inherited metabolic disorder that is caused by a deficiency of glucose-6-phosphate translocase with consequent accumulation of glycogen. The purpose of this study is to report a case affected by glycogen storage disease type Ib in which unusual oral findings were evident and to review the pertinent literature. The disease presents with failure to thrive, hepatomegaly, hypoglycemia, hyperlacticacidemia, neutropenia, and neutrophilic dysfunction causing increased susceptibility to recurrent infections. Common intraoral manifestations are dental caries, gingivitis, periodontal disease, delayed dental maturation and eruption, oral bleeding diathesis, and oral ulcers. Conversely, unusual oral lesions were observed in this case as hyperplastic-hypertrophic gingiva and giant cell granulomatous epulis. The treatment with granulocyte colony-stimulating factor markedly increased the neutrophil counts and reduced the frequency of infections and inflammations. Proper evaluation of the patient's oral condition, a program of preventive measures, and suitable medical consultation are important to minimize and avoid long-term complications.