Clinical Pathology最新文献

Adult hepatoblastoma is a rare tumor whose etiology and mechanisms of development are still incompletely understood. Imaging and biological tests such as AFP and liver enzymes are non-specific. Histologically, there are 2 histological variants: pure epithelial with 5 types (pure fetal, embryonal, small cell undifferentiated, cholangioblastic, and macrotrabecular), a mixed epithelial and a mesenchymal variant with or without a teratoid contingent. The main differential diagnosis concerns hepatocellular carcinoma. The treatment of hepatoblastoma in adults is not yet standardized and surgery remains the mainstay of treatment. In this report we aim to describe the clinical, pathological, and immunohistochemical features of this rare entity in adult patients and discuss the elements allowing its distinction from hepatocellular carcinoma (HCC).

Splenic lymphoma may be primary or secondary. Primary splenic lymphoma's are rare and usually of follicular cell origin representing <1% of Non-Hodgkin's Lymphoma's. Most are secondary with 35% representing Marginal Cell sub-type with the rest being Diffuse Large B-Cell Lymphoma's. Unlike the uniformly aggressive clinical course of Diffuse Large B-Cell Lymphoma's, biological behavior of Primary Splenic CD10-Positive Small B-Cell Lymphoma/Follicular Lymphoma remains less well defined. We present here a solitary splenic mass confirmed as Primary Splenic CD10-Positive Small B-Cell Lymphoma/Follicular Lymphoma after a diagnostic splenectomy. Biopsy revealed monomorphic small lymphoid cells with low grade mitotic activity. Flow cytometry showed a lambda restricted population of B-Cells displaying dim CD19 and CD10. The cells were negative for CD5, CD11c, and CD103. FISH was negative for IGH/BCL2 fusion unlike nodal Follicular Lymphoma's which are usually positive for this translocation. Evidence from this case and a review of literature support the finding that Primary Splenic CD10-Positive Small B-Cell Lymphoma/Follicular Lymphoma is less likely to have the classic IGH-BCL2 fusion and the associated chromosomal 14;18 translocation. This profile is associated with less aggressive clinical behavior even when histopathology represents a high-grade pattern. In such cases splenectomy alone is adequate for localized disease when negative for IGH/BCL2 fusion regardless of histological grade.

Monkeypox is a zoonotic disease caused by the monkeypox virus (MPXV). It was an epidemic infection among African countries over the last few decades. In 2022, MPXV has been broke through in Africa, America, Eastern Mediterranean, Europe, South-East Asia, and Western Pacific region. This widespread infection of MPXV has created panic across the nations, and the WHO has declared a global public health emergency due to the multi-country MPX outbreak. We prepared this brief report on the MPX outbreak 2022 by extracting data from Scopus, PubMed, and website databases. We manually read all the relevant articles from our target databases. The rapid spread of MPX infection in around a 100 countries has threatened the global healthcare systems. The available epidemiological data revealed that sexual orientations and encounters are potential contributing factors for monkeypox infections. However, it has not been categorized as a sexually transmitted infection. Also, MPXV can transfer from 1 individual to others in many ways. The empowerment of this old foe has created additional pressure and threat on the healthcare authorities during the ongoing Covid-19 pandemic. Effective preventive measures, social awareness, and therapeutic approaches can reduce this extra burden on the healthcare system across the countries. Focusing only on sexual orientations and encounters as risk factors for MPX infection might increase stigma that will be another barrier to controlling and preventing MPXV spread. Therefore, we should be careful in delivering messages about MPX infection to the general population. Also, we recommend repositioning the existing smallpox vaccines and antivirals in MPX infection until the development of specific antiviral agents against this infection.

Background: Phosphaturic mesenchymal tumor (PMT) is a very rare tumor of bone and soft tissue that has no specific clinical manifestations. Here we present 2 cases of PMT in the right thigh, including comparatively adequate immunohistochemistry.

Case presentation: We described 2 cases of PMT in the right thigh with manifestations of hypophosphatemia. PET-CT examination showed that both patients had lesions with increased expression of somatostatin receptors in the right thigh. Bland cells and dirty calcified stroma were exhibited under the microscope. And immunohistochemical detection of FGF-23 was positive.

Conclusions: PMT is a very uncommon tumor for which diagnosis and treatment are often delayed. Considering the importance of surgery for the treatment of this disease, a full understanding of its clinicopathological features will facilitate the diagnosis of this disease.

Background: Secondary bacterial and fungal infections in COVID patients have been documented during current pandemic. The present study provides detailed account of histomorphology of debridement tissue received for suspected fungal infections. The primary objective was to determine the morphological characteristics that must be recognized for the identification of fungal hyphae.

Methods: The detailed histological examination of debridement tissue was performed. Demographic and clinical findings with treatment provided was recorded. Presence or absence of necrosis and lecocytoclasis was noted.

Results: A total of 110 cases of debrided tissues were included in the study. Eosinophilic granular necrosis with lecocytoclasis was observed in 103cases; fungal elements were identified in 89.3% (92/103) of these. Eleven cases where necrosis was observed, strong suspicion of fungus was reported, 6 of them displayed fungus on KOH preparation, 3 on repeat biopsy. However, in 2 of these cases, neither KOH nor repeat biopsies identified the fungus. Mucor with aspergillus was observed in 7 cases and actinomyces in 3. In all these 10 cases dense fungal colonies were evident. In 7 cases careful observation revealed fruiting bodies of aspergillus. Cotton ball appearance of actinomyces was evident. Mucor infection in current disease was so rampant that aseptate ribbon like branching mucor hyphae were evident on H&E sections. Diabetes was significantly associated with fungal infection (97.2%; 70/72; P < .005). 90% [19/21] of the patients who were on room air and diagnosed with fungal infection were diabetic.

Conclusions: Eosinophilic granular necrosis with the presence of neutrophilic debris in a case of suspected fungal disease suggests the presence of fungal elements. This warrants processing of the entire tissue deposited for examination, careful observation, application of fungal stains, and repeat biopsy if clinical suspicion is strong. Moreover, uncontrolled diabetes is more frequently associated with secondary fungal infection in COVID patients as compared to oxygen therapy.

Aim: To clarify whether there is any association between the extent of Chlamydia pneumoniae (C. pneumoniae) infection and plaque instability or post-directional coronary atherectomy (DCA) restenosis, we determined the frequency of C. pneumoniae infection and its localization in symptomatic coronary atherosclerotic plaques using specimens obtained from DCA.

Methods and results: Immunohistochemistry (IHC) and real-time polymerase chain reaction (RT-PCR) revealed the existence of C. pneumoniae in all 50 specimens of coronary atherosclerotic plaques obtained by DCA. C. pneumoniae-positive cell ratio determined with IHC or copy numbers of C. pneumoniae DNA detected by RT-PCR did not differ significantly between patients with stable angina pectoris and those with acute coronary syndrome (IHC: 16.4 ± 7.6% vs 18.0 ± 7.1%, P = .42; RT-PCR: no. of cases with high copy numbers 12/25 vs 10/25, P = .78), or between patients with subsequent post-DCA restenosis and those without (IHC: 17.1 ± 8.0% vs 18.0 ± 7.4%, P = .74; RT-PCR: 5/12 vs 10/21, P = 1.00).

Conclusions: C. pneumoniae was highly prevalent in coronary atherosclerotic plaques of patients who underwent DCA. However, the extent of C. pneumoniae infection in coronary atherosclerotic plaques was not associated with plaque instability or post-DCA restenosis.

The discovery of the SARS-CoV-2 Omicron (B.1.1.529) variant has sparked alarm globally because of its rapid rate of infection and trespassing acquired immunity due to vaccination or natural infection. This heavily mutated variant is rapidly spreading around the world. Infected individuals with the Omicron variant may suffer from flu-like symptoms, and infected with the Delta variant frequently report low oxygen levels, high pulse rates, and a loss of smell and taste. Also, the Omicron variant causes asymptomatic or mild disease so far, and not any severe illness as like Delta, and this new variant has a 15% to 80% reduced risk of hospitalization than the Delta variant. Scientists are worried about the possibility of escaping the immunity by the Omicron variants and subvariants among fully vaccinated and recovered COVID-19 patients. Two doses of available vaccines are found to be partially ineffective in protecting this new variant, therefore, the third dose as a booster is recommended to enhance antibody level. Moreover, some antiviral drugs significantly reduce hospitalization or death among mild to severe COVID-19 patients. All authorized antiviral drugs are effective against viral replication for most SARS-CoV-2 variants, and particularly some monoclonal antibodies may not now be effective in treating COVID-19 patients. There is an urgent need to update existing vaccines, develop more effective and newer vaccines as well as additional monoclonal antibodies to counter Omicron. Therefore, along with close monitoring of Omicron characteristics, the present study suggests that health safety guidelines, mass immunization, early diagnosis, and search for effective antiviral drugs should be the approaches to fight against newer SARS-CoV-2 variants.

Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features. The Rett syndrome is associated with a broad phenotypic spectrum. It ranges from a classical Rett syndrome defined by well-established criteria to atypical cases with symptoms similar to other syndromes, such as Angelman syndrome. The first case of a Moroccan female child carrying a R306X mutation in the MECP2 (Methyl-CpG-Binding Protein 2) gene, with an unusual manifestation of Rett syndrome, is presented here. She showed autistic regression, behavioral stagnation, epilepsy, unmotivated laughter, and craniofacial dysmorphia. Whole exome sequencing revealed a nonsense mutation (R306X), resulting in a truncated, nonfunctional MECP2 protein. The overlapping phenotypic spectrums between Rett and Angelman syndromes have been described, and an interaction between the MECP2 gene and the UBE3A (Ubiquitin Protein Ligase E3A) gene pathways is possible but has not yet been proven. An extensive genetic analysis is highly recommended in atypical cases to ensure an accurate diagnosis and to improve patient management and genetic counseling.

Mastocytosis is a rare disorder affecting both children and adults by gathering of functionally defective mast cells in the body's tissues. The World Health Organization (WHO) classified mastocytosis into cutaneous mastocytosis, systemic mastocytosis (SM), and mast cell sarcoma (MCS). We hereby present a case of retroperitoneal MCS with concurrent systemic mastocytosis and an undisclosed associated hematological neoplasm (SM-undisclosed AHN). The diagnosis of MCS and SM was made after the second biopsy over retroperitoneal mass, lymph node, and ovary for rapidly progressive disease with the presentation of unexplained recurrent flushing, palpitation, and shock, in addition to abdominal pain. A clonal myeloid neoplasm was also suspected by the karyotype and hemogram data. Unfortunately, the patient succumbed to the disease quickly. Apart from this unique case, the previously reported cases of SM with MCS in the literature were also reviewed.

Metaplastic breast carcinoma (MBCs) is a rare heterogeneous group of malignancies. Herein, we report a case of metaplastic breast carcinoma, which had 2 components. One of them was typical invasive ductal carcinoma (IDC), the other one was presenting as osteosarcoma with lots of immature trabeculae. The results of immunohistochemistry showed different presentations between them. The majority of MBCs show triple-negativity for ER, PR, and HER-2 and are thus associated with poor prognosis. Our report shows that, it is necessary to describe the proportion of the components and the presentations of immunohistochemistry in the diagnosis, which will be important to develop specific and effective therapies.