Human Pathology Reports最新文献

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.

Blastomycosis, caused by dimorphic fungi from the genus Blastomyces, is an endemic disease of the midwestern United States that typically presents as pulmonary disease mimicking community acquired pneumonia. Extrapulmonary blastomycosis occurs in up to 50% of cases and most commonly involves the skin. Genitourinary blastomycosis is a rare entity most often seen in disseminated systemic blastomycosis, and rarely as the presenting manifestation of blastomycosis. Here we describe a case report of a 78-year-old Midwestern man incidentally found to have a large kidney mass and multiple pulmonary nodules. Renal biopsy revealed multiple sites of granulomatous inflammation and budding yeast consistent with Blastomyces species. We present the patient’s clinical history, treatment regimen, and clinical course.

Background

Cemento-ossifying fibroma (COF) and focal cemento-osseous dysplasia (FCOD) are benign neoplasms occurring in the mandible and maxilla; histologically, they both show normal bone replacement by a fibrous stroma containing variable amounts of calcified fragments resembling bone and cementum. FCOD is relatively common and requires observation; COF is rare and its growth over time can lead to deformity in the head and neck region. Surgical removal of COF at an early stage is critical to prevent recurrence and deformity. Therefore, distinguishing COF from FCOD is important for proper further management.

Methods and Materials

To determine the parameters differentiating COF from FCOD, we retrospectively analyzed 15 COF cases and 27 FCOD cases reviewed between 2005 and 2020 at Temple University Hospital. Demographic, radiographic and histopathologic characteristics were compared by using Student’s t test for continuous variables and Chi-square test for categorical variables.

Results

In the non-histopathologic spectrum, COF occurred at a younger age (average age-31yo versus FCOD 43 yo). FCOD showed female predilection compared with COF. No significant difference was observed regarding location and radiographic density. However, COF was significantly associated with radiographic cortical expansion. In the histopathologic spectrum, FCOD was more frequently associated with significant intralesional hemorrhage, increased vascularity, osteoblastic rimming of trabeculae, and ginger roots –like bone trabeculae.

Discussion

We demonstrated 7 clinical, radiographic, and pathologic parameters that can help differentiate COF from FCOD. Comprehensive assessment of the distinguishing characteristics is valuable for accurate diagnosis and treatment of these two entities, aiding in minimizing unnecessary procedures for FCOD and averting facial deformities caused by COF.

A Japanese female in her 20 s with a history of self-induced vomiting was diagnosed with severe renal failure and referred to our department. She was extremely lean, with a body mass index of 9.6 kg/m². Computed tomography showed increased brightness of the entire renal parenchyma; renal biopsy demonstrated prominent calcium deposition in the Bowman’s capsule and tubulointerstitial areas accompanied by collapsed glomeruli, severe interstitial fibrosis and tubular atrophy. Although the diagnosis was nephrocalcinosis, no underlying conditions were found. Despite the management of chronic kidney disease-mineral bone disorder and nutritional therapy, the patient developed uremia and initiated maintenance hemodialysis approximately two years after the first visit. Kidney disorders are commonly observed in patients with eating disorders and may occasionally lead to end-stage kidney disease. However, detailed investigations are few, especially regarding the histopathological conditions of these patients, and the precise mechanisms remain unclear. Nephrocalcinosis can cause end-stage kidney disease if extensive, as observed in the present case.

Intraductal oncocytic papillary neoplasms (IOPN) are rare cystic pancreatic neoplasms marked by oncocytic cells and intricate papillary structures. While typically slow-growing, approximately one-third of IOPN cases are associated with invasive adenocarcinoma. In this report, we present an extremely rare case of invasive squamous cell carcinoma arising in the background of IOPN. A 74-year-old man underwent a central pancreatectomy due to an incidentally discovered cystic mass in the pancreatic body. Histological examination revealed IOPN with regions of invasive squamous cell carcinoma. Next-generation sequencing identified the characteristic ATP1B1::PRKACA fusion in both the IOPN and squamous cell carcinoma components. To the best of our knowledge, this is the first documented instance of invasive squamous cell carcinoma originating from an IOPN.

Microcystic stromal tumors (MCSTs) are rare ovarian stromal tumors. They harbor CTNNB1 or APC mutations, resulting in β-catenin nuclear expression. Morphologically, they characteristically consist of tumor cells with small round nuclei, inconspicuous nucleoli, moderate amount of eosinophilic or vacuolated cytoplasm. Cells can form solid nests and sheets, small or sometimes large cystic structures. Background stroma is often myxoid with foci of fibrosis. In addition to the nuclear β-catenin stain, the tumor cells are characteristically negative for inhibin and calretinin, but positive for CD10, CyclinD1, WT1 and FOXL2. To date, all MCST cases treated with oophorectomy or more extensive surgery have followed benign clinical courses. However, two of the four cases treated with ovarian cystectomy/tumor resection recurred in the residual ovary and local extraovarian involvement several years after ovarian cystectomy, which indicates MCST has the potential to recur and spread locally. This article is aimed to review the literature about MCST to summarize its morphology, immunophenotype, molecular alteration as well as clinical behavior.