BMC Clinical Pathology最新文献

Background: Endometrial cancer (EC) is a major health concern due to its rising incidence. Whilst early stage disease is generally cured by surgery, advanced EC has a poor prognosis with limited treatment options. Altered energy metabolism is a hallmark of malignancy. Cancer cells drive tumour growth through aerobic glycolysis and must export lactate to maintain intracellular pH. The aim of this study was to evaluate the expression of the lactate/proton monocarboxylate transporters MCT1 and MCT4 and their chaperone CD147 in EC, with the ultimate aim of directing future drug development.

Methods: MCT1, MCT4 and CD147 expression was examined using immunohistochemical analysis in 90 endometrial tumours and correlated with clinico-pathological characteristics and survival outcomes.

Results: MCT1 and MCT4 expression was observed in the cytoplasm, the plasma membrane or both locations. CD147 was detected in the plasma membrane and associated with MCT1 (p = 0.003) but not with MCT4 (p = 0.207) expression. High MCT1 expression was associated with reduced overall survival (p = 0.029) and remained statistically significant after adjustment for survival covariates (p = 0.017).

Conclusion: Our data suggest that MCT1 expression is an important marker of poor prognosis in EC. MCT1 inhibition may have potential as a treatment for advanced or recurrent EC.

Background: The only potentially curative therapy for myelodysplastic syndrome is allogeneic hematopoietic cell transplant; unfortunately, there is a high relapse rate. The objective of this study was to perform a detailed clinicopathologic study of patients with relapsed myeloid neoplasm following allogeneic hematopoietic cell transplant for myelodysplastic syndrome.

Methods: Pre-transplant, post-transplant, and relapse bone marrow and peripheral blood morphologic features (including dysplasia) were retrospectively evaluated by study authors. Clinical features and results of cytogenetic analysis and engraftment/chimerism studies were obtained from the medical record.

Results: Our study describes 21 patients with a median time to relapse of 6 months (range 2-82). Ten of the patients relapsed with higher grade disease, including six with overt acute myeloid leukemia. Pre-transplant megakaryocyte dysplasia was associated with dysplastic megakaryocytes in the relapse specimen; however, neither erythroid dysplasia nor granulocytic dysplasia were associated with their counterpart in the relapse specimen. Relapse specimens had a lower marrow cellularity and higher blast percentage than pre-transplant disease. Cytogenetic comparisons before and after transplant showed variety, including clonal evolution (22%), the same abnormal clone (33%), or a different abnormal clone (22%).

Conclusions: Our detailed review of post-transplant marrow biopsies prior to relapse highlights the difficulty in diagnosing relapse and particularly impending relapse.

Background: The global prevalence of type 2 diabetes is increasing. Dyslipidaemia is a known complication of diabetes mellitus manifesting frequently as cardiovascular diseases and stoke. Elevation of small, dense low density lipoprotein has been recognised as a component of the atherogenic lipoprotein phenotype associated with cardiovascular complications. We speculate that the elevation of this lipoprotein particle may be the antecedent of the atherogenic lipoprotein phenotype. This study therefore aims to determine the pattern of dyslipidaemia among diabetes mellitus patients in Jos, North-Central Nigeria.

Methods: One hundred and seventy-six patients with type 2 diabetes and 154 age-matched controls were studied. The patients with diabetes were regular clinic attenders and had stable glycaemic control. None were on lipid-lowering therapy. Anthropometric indices, blood pressure, and lipids (including total cholesterol, high density lipoprotein cholesterol, and triglyceride) were measured by chemical methods using the Hitachi 902 analyzer. Low density lipoprotein cholesterol was calculated using the Friedewald's equation. Small, dense low density lipoprotein cholesterol, -sdLDL-C was measured using the precipitation method by Hirano et al. Means of the different groups were compared using EPI Info and a P-value of <0.05 was accepted as significant difference.

Results: Total cholesterol, low density lipoprotein cholesterol, triglyceride and small, dense lipoprotein cholesterol were all significantly higher in diabetes patients than controls except high density lipoprotein cholesterol. The percentage of LDL-C as sdLDL-C among the diabetes versus control group was 45% ± 17.79 v 32.0% ± 15.93. Serum sdLDL-C concentration was determined to be 1.45 ± 0.64 among diabetes patients and 0.8 ± 0.54 among control subjects. 75% of diabetes patients had hypertension and were taking blood pressure lowering medications.

Conclusion: The classical atherogenic lipoprotein phenotype was not demonstrated among subjects with type 2 diabetes mellitus in this study, but the elevation of serum small dense low density lipoprotein cholesterol in patients with sustained hypertension suggests the establishment of atherogenic complications among our diabetes patients.

Background: Intraoperative consultation is an important tool for the evaluation of the upper aerodigestive tract (UAT) malignancies. Although frozen section analysis is a preferred method of intra-operative consultation, however in resource limited countries like Pakistan, this facility is not available in most institutes; therefore, we aimed to evaluate the diagnostic accuracy of touch imprint cytology for UAT malignancies using histopathology of the same tissue as gold standard.

Methods: The study involved 70 cases of UAT lesions operated during the study period. Intraoperatively, after obtaining the fresh biopsy specimen and prior to placing them in fixative, each specimen was imprinted on 4-6 glass slides, fixed immediately in 95% alcohol and stained with Hematoxylin and Eosin stain. After completion of the cytological procedure, the surgical biopsy specimen was processed. The slides of both touch Imprint cytology and histopathology were examined by two consultant histopathologists.

Results: The result of touch imprint cytology showed that touch imprint cytology was diagnostic in 68 cases (97.1%), 55 (78.6%) being malignant, 2 cases (2.9%) were suspicious for malignancy, 11 cases (15.7%) were negative for malignancy while 2 cases (2.9%) were false negative. Amongst the 70 cases, 55 cases (78.6%) were malignant showing squamous cell carcinoma in 49 cases (70%), adenoid cystic carcinoma in 2 cases (2.9%), non-Hodgkin lymphoma 2 cases (2.9%), Mucoepidermoid carcinoma 1 case (1.4%), spindle cell sarcoma in 1 case (1.4%). Two cases (2.9%) were suspicious of malignancy showing atypical squamoid cells on touch imprint cytology, while 13 cases (18.6%) were negative for malignancy, which also included 2 false negative cases. The overall diagnostic accuracy of touch imprint cytology came out to be 96.7% with a sensitivity and specificity of 96 and 100%, respectively while PPV and NPV of touch imprint cytology was found to be 100 and 84%, respectively.

Conclusion: Our experience in this study has demonstrated that touch imprint cytology provides reliable specific diagnoses and can be used as an adjunct to histopathology, particularly in developing countries, where the facility of frozen section is often not available, since a rapid preliminary diagnosis may help in the surgical management planning.

Background: Lymphoepithelial carcinoma is a tumor mostly diagnosed in the nasopharynx, but it has also been described in a variety of nonnasopharyngeal sites. It is extremely rare in the larynx and should be distinguished from squamous cell carcinoma. Therefore, it must be known by clinicians, pathologists and oncologists. In this case report, we discuss its etiopathogeny, its epidemiological, clinical, pathological and therapeutic aspects, and its outcome.

Case presentation: An 81-year-old Morrocan man, smoker for 40 years, presented with a 1 year history of dysphonia, dyspnea and dysphagia. Laryngoscopy showed a mass occupying supraglottic, glottic and subglottic levels of the larynx. Cervico-thoracic computed tomography scan showed a laryngeal wall thickening with cervical lymphadenopathy. Laryngeal biopsy was performed. Microscopic analysis and immunohistochemistry confirmed the diagnosis of laryngeal lymphoepithelial carcinoma. Immunostaining for LMP1 was negative.

Conclusion: Laryngeal lymphoepithelial carcinoma is an extremely rare and an aggressive tumor. It is rarely associated with the EBV. It must be regarded as a distinct entity. Radiotherapy is advisable as the unique therapy for local tumor. A correct diagnosis and a close collaboration between the pathologist and clinicians is mandatory for an optimal treatment strategy.

Background: Solitary fibrous tumor is an uncommon spindle cell neoplasm of unknown origin. It has been reported in many anatomic sites, with a rare occurrence in the head and neck region. Solitary fibrous tumors of the parotid gland are exceptional; their clinical and radiologic features are non specific, often mimicking more common salivary gland tumors. Pathologic examination and immunohistochemistry are required to make the correct diagnosis. The prognosis is favorable, with most tumors being benign, and complete surgical resection is the treatment of choice.

Case presentation: We report the case of a 42-year-old man who presented with a painless mass involving the parotid gland. A parotidectomy was performed, and follow up was unremarkable. Gross examination showed a well circumscribed, firm tumor measuring 3,4 cm. Histologically, the tumor was composed of a spindle cell proliferation of variable cellularity, with staghorn vessels. A panel of immunohistochemical stains was performed, and confirmed the diagnosis of parotid gland solitary fibrous tumor.

Conclusion: In this report we aim to increase awareness of this rare entity among clinicians and pathologists, and to emphasize the role of immunohistochemistry in confirming the diagnosis.

Background: Medulloepithelioma is a rare primitive neuroectodermal tumor of the central nervous system, usually developing in childhood. Due to its rarity, the optimal management is still unknown. The prognosis is poor, especially when resection is incomplete. Adjuvant radiochemotherapy is often indicated.

Case presentation: We report a rare case of infratentorial medulloepithelioma in a 3 year old girl. She presented symptoms of increased intracranial pressure. On examination, she had coordination problems, ptosis and exotropia of the right eye. Magnetic resonance imaging demonstrated a large cerebellar vermix tumor. Immuno-histochemistry revealed a diffuse positivity for Vimentin and focal positivity for the epithelial membrane antigen, but Glial Fibrillary Acidic Protein and Synaptophysin were negative, the MIB-1 antibody was very high. She received postoperative craniospinal irradiation and died 7 months later.

Conclusion: We describe the features (epidemiological, clinical, histological, immunohistochemical and therapeutic outcomes) of our case and confront it to literature data.

Background: B-cell lymphomas harboring the 8q24/MYC plus 18q21/BCL2 translocations are now referred to as high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements (HGBL-MBR). Although HGBL-MBR is frequently found in cases with diffuse large B-cell lymphoma or Burkitt lymphoma-like B-cell lymphoma, acute lymphoblastic leukemia (ALL)-like disease of HGBL-MBR (AL-HGBL-MBR) has been reported incidentally.

Case presentation: A 69-year-old Japanese woman developed remittent fever and increasing systemic bone pain. The bone marrow examination revealed that more than 90% of nuclear cells were blastoid cells, which were positive for CD10, CD19, CD20, and surface IgMκ and negative for terminal deoxynucleotidyl transferase (TdT). Cytogenetic studies confirmed that the patient had de novo AL-HGBL-MBR with the extra copies of MYC and loss of chromosome 17p. She showed resistance to chemoimmunotherapy and died seven months after the diagnosis. The literature review identified further 47 de novo AL-HGBL-MBR cases within the last 32 years. The median age was 61 years (range, 27 - 86); the male/female ratio was 2.0. Thirty-eight cases (79%) presented a clinical picture of ALL at diagnosis; 14 (36%) of 39 available cases showed central nervous system involvement. Loss of 17p and translocations at 2p12-13, 3q27, 9p13 were frequently observed as additional cytogenetic abnormalities. Although the median survival of 46 available cases was only five months (range, 0.1-18), rituximab use significantly improved the survival of AL-HGBL-MBR (log-rank test, P = 0.0294).

Conclusion: Our patient and most reported de novo AL-HGBL-MBR cases showed resistance to conventional chemoimmunotherapy and disastrous consequences. AL-HGBL-MBL is a rare, but should be considered a distinct clinical condition in HGBL-MBR. Other therapeutic strategies, such as using inhibitors of MYC and BCL2, are needed to overcome the chemoresistance of AL-HGBL-MBR.

Background: Primary hyperoxaluria is a rare disease with an estimated prevalence of 1 to 3 cases per million. It is due to a hepatic enzyme deficiency responsible for an endogenous overproduction of oxalate. Oxalate crystals commonly deposit in the kidney and more rarely in bone marrow. The literature has reported, to the best of our knowledge, only two cases of hyperoxaluria diagnosed by bone marrow biopsy and our case is the only one that does not show radiological bone lesions.

Case presentation: A young 22 year old chronic hemodialysis patient with nephrocalcinosis. The patient had a personal and family history of recurrent kidney stones. He presented bone pain with worsening of his general state. On physical examination, no organomegaly was detected. Biological check-up showed only a normochromic and normocytic regenerative anemia resistant to treatment and a bone marrow biopsy was performed. It showed deposits of crystals of oxalate in the bone marrow surrounded by inflammatory reaction against foreign bodies. Given our context, no liver biopsy or genetic studies, which are gold standard of diagnosis testing, were done. The diagnosis of primary hyperoxaluria was made based on morphological characteristics of crystals, his medical and family history, and the absence of any secondary cause of the condition. Since curative treatment is not available in our country, the patient only receives a palliative treatment.

Conclusion: Primary hyperoxaluria is rarely evoked by the histological study of a bone marrow biopsy. The lack of the possibility of the only effective treatment in our context and the diagnosis, usually late, of this pathology are at the origin of the fatal evolution of the disease in almost all the cases.

Background: Mosquito coil (MC) emits insecticide upon burning which provides limited protection against lethal mosquito borne diseases. However, apart from killing the insect, toxicities associated with the inhalation of these insecticides poses severe health hazards. However, the use of MC is increasing day by day in third world countries in particular but, yet to receive enough attention of both policy maker and general public. The current study was aimed to assess the MC smoke induced damage of pulmonary and hepatic tissues along with observing the alterations of several blood biochemical parameters in mice model.

Methods: A total of twenty four Swiss albino mice were allowed to inhale the smoke of allethrin based MC at different duration per day for 120 days. By the end of treatment period, blood sample was drawn from each mouse and blood biochemical parameters including alanine transaminase (ALT), aspartate transaminase (AST), blood urea nitrogen(BUN), serum total protein, cholesterol, low density lipoprotein (LDL) and triglyceride (TG) were analyzed. Intact lung and liver were collected for histological analysis using standard protocol.

Results: Biochemical study indicates elevated activity of two hepatic enzymes: ALT (89%), AST (85%), in comparison with the respective control. Increased level of some parameters of lipid profile including cholesterol (36%), LDL (48%) and triglyceride (30%) in smoke inhaled mice is the new finding of this study. On the contrary, the activity of serum total protein and BUN was decreased by 20% and 24%, respectively in inhaled mice. Pulmonary tissue of treated mice shows severe forms of emphysema and hyperplasia, especially in the peripheral region of lung, which is the hallmark of chronic obstructive pulmonary disease (COPD). Histological study of hepatic tissue shows apoptosis mediated damage of hepatocytes along with severe form of necrosis. Infiltration of Inflammatory cells was also observed in both of the organs.

Conclusion: Results from the present studies suggest that chronic exposure of allethrin based MC is responsible factor for severe health complications such as COPD due to the alterations of the key biochemical parameters of blood and histo-organization of lung and liver.