Human Pathology Reports最新文献

Urinothorax represents a very rare form of pleural effusion with significant clinical and laboratory variability making diagnosis difficult. We encountered a 63-year-old male who presented to the hospital for an elective right percutaneous nephrolithotomy for a staghorn calculus. Following this procedure, a novel right sided large pleural effusion was noted. Pleural studies were consistent with a pneumothorax and a likely urinothorax. Cloudy, amber, transudative pleural fluid was submitted for cytologic analysis. Cell morphology and immunohistochemical studies confirmed the clinical impression of urinothorax. This study shows that cytologic analysis with ancillary immunohistochemical stains is a convenient method for urinothorax diagnosis. Etiological identification of the pleural effusion is critical for patient management.

Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy, but the spinal cord is rarely examined. Here we report a case of DMD with interesting spinal cord findings. In a 37-year-old man with DMD accompanied by hypoxic encephalopathy from the age of 32 years, autopsy showed amyotrophic lateral sclerosis-like pyramidal tract degeneration over the entire spinal cord, presumably due to hypoxic encephalopathy. Furthermore, anterior horn cells exhibited Wallerian degeneration-like changes. To investigate more about the pathogenesis, an immunohistochemical study using anti-synaptophysin, glutamic acid decarboxylase (GAD), postsynaptic density protein-95 (PSD-95) and choline acetyltransferase (ChAT) antibodies was performed. Immunostaining for synaptophysin showed that the number of synapses around anterior horn cell were decreased, contrary to the finding of teenage DMD, in which the number of synapses were increased, probably due to the reaction toward the reduced anterior horn cell activity. The decrease of synapses of the present case may be mainly due to hypoxic encephalopathy, based on the degeneration of the pyramidal tract. Another interesting finding is that GAD was strongly positive in the cytoplasm of anterior horn cells, which may be explained by Wallerian degeneration-like mechanism. Moreover, the expression of PSD-95 is increased in anterior horn cells. Compensation for postsynaptic damage can be considered, since dystrophin is necessary for maintaining the post-synaptic maintenance. There were no apparent differences in ChAT immunostaining. Further investigation is necessary whether these findings are characteristic of long-term surviving cases accompanied by hypoxic encephalopathy.

Background

Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal neoplasm with uncertain origin that is commonly seen in the lower extremities. Due to lack of specific clinical presentation, radio-pathologic and immunohistochemical (IHC) findings, the diagnosis of EMC is challenging.

Case report

Here we report a 60-year-old female presenting with a slow-growing tender mass on the right medial knee over the last 10 years. Histological evaluation of the resected specimen showed a subcutaneous multi-lobular lesion composed of uniform bland small oval to spindle shaped cells interconnected to arrange in cords and clusters in abundant myxoid matrix. Necrosis was identified in 10 % of the specimen. IHC staining showed that the tumor cells were weak and patchy positive for INSM1 and NSE and rarely positive for EMA. DNA and RNA next-generation sequencing reveal a dual gene rearrangement, including EWSR1::NR4A3 and HAPLN1::EDIL3 fusion. The combination of histopathologic and molecular findings supports the diagnosis of EMC.

Conclusion

This is the first reported case, to the best of our knowledge, of EMC with dual gene fusions. Although diagnostic and prognostic significance of HAPLN1::EDIL3 fusion and coexistence of HAPLN1::EDIL3 fusion and EWSR1::NR4A3 fusion in EMC remains unknown at this time, our hope that this case will be helpful to broaden the spectrum of known gene fusion variants in EMC, and augment the awareness and interest of researcher in investigating the impact of individual HAPLN1::EDIL3 fusion and dual gene rearrangement of HAPLN1::EDIL3 fusion and EWSR1::NR4A3 fusion on clinical behavior of EMC.

Papanicolaou (Pap) smear on cervical cells heralded the revolution of modern cytopathology in the middle of the 19th century, and cervical screening is now considered one of medicine’s greatest success stories. While routine cervical cytology has significantly reduced the incidence of cervical cancer worldwide, it is not without limitations. Although the specificity of Pap smear to detect high-grade intraepithelial lesion (HSIL)/cervical intraepithelial neoplasia (CIN) 2–3 is consistently high, the sensitivity ranges broadly from 34 % to 94 % [1]. Given the rapid evolution in understanding the etiologic role of high-risk human papillomavirus (hrHPV) in cervical cancer development, the clinical guidelines have transitioned from “evidence-based” to “risk-stratified” algorithms. Primary hrHPV testing as a more sensitive test for high-risk cervical lesion (CIN2+) detection is considered the preferred screening test in some guidelines, but due to its low specificity, a follow-up triage test is needed to reduce unnecessary colposcopy referrals. Candidates for the triage test include cytology, biomarkers such as P16/Ki67 dual stain (DS), and hrHPV genotyping. This review discusses the advantages and potential issues with primary hrHPV testing and dual stain, the current American Society of Colposcopy and Cervical Pathology (ASCCP) guideline with a focus on new endocervical curettage (ECC) guidelines, as well as the new World Health Organization (WHO) classification of endocervical adenocarcinoma and the impact on cervical cytopathology.

Secretory breast carcinoma is a rare form of breast cancer characterized by low-grade histology, presence of intracellular eosinophilic secretions, and ETV6-NTRK3 fusion. Although several studies have explored the histopathologic features of secretory carcinoma, limited attention has been given to the in situ component. We report 5 cases of secretory breast carcinoma with an extensive intraductal component and describe morphologic and biologic characteristics of the in-situ component of secretory breast carcinoma, along with a detailed review of the literature, and discuss potential diagnostic pitfalls in erroneously identifying the in situ lesion as florid hyperplasia.

Kikuchi-Fujimoto disease (KFD, histiocytic necrotizing lymphadenitis) is a rare, benign disease in which the presenting clinical and radiological features often result in misclassification as a malignant process. We present the first report of concurrent KFD in the draining lymph nodes of a malignant phyllodes tumour, adding to the growing number of reports of KFD occurring in the context of malignancy, further compounding the existing diagnostic difficulties. An increased awareness of this condition with consideration for inclusion in the differential diagnosis of lymphadenopathy is required for improved diagnosis of this under-recognized entity.

Ovarian cancer is the leading cause of death among gynecological cancers in most developed countries, with many patients developing chemotherapy resistance leaving them with a 5-year survival rate of < 35 %. This dismal overall survival is likely due to the histologic subtype of ovarian carcinoma, advanced stage at diagnosis, and patients developing chemotherapy resistance. Around 20–25 % of women who develop ovarian cancer have a hereditary predisposition to ovarian cancer due to germline mutations in the context of cancer syndromes such as Hereditary Breast and Ovarian Cancer syndrome (HBOC) and Lynch syndrome. These conditions are responsible for around 15 % and 2 % of ovarian cancers, respectively, and predispose individuals to cancer and often at an earlier age. In our study, an anatomical donor whose volunteered medical history described ovarian cancer as the cause of death was found to have multiple metastatic sites, enlarged lymph nodes, total colectomy, and total hysterectomy with bilateral salpingo-oophorectomy upon student dissection. Based on the pathological exam and available medical history, we hypothesized that the donor had an inherited cancer syndrome. To test this hypothesis, we collected multiple tissue samples from this donor which were stained with hematoxylin and eosin (H&E), immunohistochemistry (IHC) techniques, and underwent DNA exome sequencing. Upon completion of our project, we did not discover established germ-line mutations that predispose patients to inherited cancer syndromes. Interestingly, we did find pathogenic mutations in PTPRJ, TLR5, and XRCC3 which have been associated with an increased risk for distinct types of cancer other than colon or ovarian hereditary cancers. More research is needed to determine if mutations in these genes may predispose patients to colon or ovarian cancers. Since these mutations are yet to be implicated with hereditary cancer syndromes, we conclude from our H&E and immunohistochemistry staining, and exome sequencing results, that our subject had primary ovarian cancer that metastasized to her liver, gastrointestinal lymph nodes, and right lung in addition to colonic pathology that required total colectomy.

Ovarian carcinoma includes a wide variety of entities and appropriate subclassification is one of the chief goals in diagnostic gynecologic pathology. Over the years, several new entities have been added to the list of ovarian carcinomas. Moreover, recent advances in the pathogenesis of newer and “older” types of ovarian carcinoma have allowed for the development of ancillary studies that are important in both the subclassification and prognostication. The surgical pathologist must assimilate these new discoveries in ovarian carcinoma in addition to refining their morphology-based diagnostic skillset. The purpose of this review article is to provide an overview of specific genetic factors, clinical disease states, and microscopic queues that are important in the subclassification of ovarian carcinoma.

Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia characterized by an abnormal proliferation of promyelocytes. It is often associated with an aggressive clinical presentation involving complex coagulopathies including disseminated intravascular coagulation, with a significant risk of bleeding and/or thrombosis if treatment with all-trans-retinoic acid (ATRA) is not rapidly initiated. Here we present a unique case of APL which was isolated to femoral bone lesions, without definitive evidence of peripheral blood or bone marrow involvement, and without systemic sequelae.

Adenoid cystic carcinoma (AdCC) is a rare entity in the breast. It is a biphasic malignancy with a slow-growing nature and a relatively favorable prognosis. While AdCC of the breast has been well characterized, adenoid cystic carcinoma in situ (AdCCIS) is barely reported in the literature. Our case involved a 40-year-old female patient who presented with a 2.5 cm mass in the left breast and was diagnosed of mammary AdCC. In addition, we identified three foci of AdCCIS containing glandular architecture and pseudoglandular spaces in terminal duct lobular units (TDLUs). Our case demonstrates the co-existence of AdCCIS and AdCC. However, it is not clear why it is rarely identified.