Human Pathology Reports最新文献

A 52-year-old Japanese woman was admitted to our hospital for uterine cervical cancer treatment. She had noticed irregular genital bleeding, and uterine cervical biopsy confirmed the presence of a squamous cell carcinoma (SqCC). Radical hysterectomy, bilateral salpingo-oophorectomy, and pelvic lymph node dissection were performed, and pathology confirmed adenosquamous carcinoma (ASC) at stage pT1b1pN1cM0 and stage IIIB. Interestingly, the adenocarcinoma components, which were approximately 5% of the ASC, were purely invasive micropapillary carcinoma (IMC) or IMC-like nests. The IMC and IMC-like components were seen at the invasive front connected to the squamous component. The patient underwent cisplatin-based concurrent chemoradiotherapy and has been disease-free for 1 year following the surgery. IMC is a histopathological type of adenocarcinoma of various organs, and uterine cervical IMCs have recently attracted attention as aggressive tumors. However, uterine cervical IMCs are rare and are not an independent entity in the latest 2020 World Health Organization’s classification of uterine cervical cancers. This case report describes the clinicopathological features of a patient with rare uterine cervical ASC and the curative potential of human epidermal growth factor receptor 2-targeting therapy.

Here, we report the development and relapse of nephrotic syndrome, complicated by thrombotic microangiopathy (TMA), after repeated injections of the mRNA-1273 (Moderna) coronavirus disease 2019 (COVID-19) vaccine. A 50-year-old male patient was admitted for further examination and treatment 28 days after receiving the second dose of the vaccine. Laboratory tests revealed nephrotic-range proteinuria, microscopic hematuria, low platelet count, and mild anemia with decreased haptoglobin levels. Renal biopsy revealed subendothelial swelling, double contours of the glomerular basement membrane, and mesangiolysis, which suggested glomerular endothelial injury. Further immunohistochemical analysis revealed the presence of platelet thrombi by CD42b staining and glomerular endothelial injury with proliferation by CD34 staining with periodic acid-Schiff counterstaining or Ki67 staining. The patient was, therefore, clinically diagnosed with TMA. Angiotensin receptor blocker treatment gradually resulted in the resolution of the patient’s clinical symptoms. However, the patient relapsed with full nephrotic syndrome. His clinical manifestations even worsened 20 days after the third vaccine injection. The close association between repeated vaccinations and development and relapse of nephrotic syndrome with TMA strongly suggests a causal relationship between these conditions. Clinicians and pathologists should be aware that this vaccine could induce not only simple minimal change disease but also nephrotic syndrome with TMA.

Immunoglobulin G4 related pseudotumour (IgG4-PT) of the gallbladder is a very rare condition formed by the infiltration of IgG4-positive lymphocytes and plasma cells, resulting in a mass effect that can mimic malignancy. We present a case of a patient who underwent an unremarkable laparoscopic cholecystectomy for symptoms of early cholecystitis that was incidentally found to have an inflammatory tumour adjacent to the cystic duct. Identification remains difficult and histopathology remains a cornerstone in correct diagnosis. Histopathological confirmation is based on meeting two of three histological criteria in the correct clinical context. IgG4-PT is a rare cause of cholecystitis and requires ongoing surveillance for IgG4 cholangiopathy.

Background

Chorangioma is a benign vascular tumour of the placenta. Majority of tumours are small and incidental. Large chorangiomas (colloquially “giant chorangiomas”) are relatively uncommon. Case report: A primiparous woman, booked at an external institution, presented at 32 + 2 weeks of gestation with abdominal pain. Ultrasound scan showed a thick placenta and features worrisome for fetal anemia. The patient underwent emergency caesarean section in view of non-reassuring fetal status. At delivery, there was a large mass adherent to the placenta, raising the clinical possibility of an acardiac twin. Histopathological examination showed a singleton placenta and a multinodular proliferation of capillaries with nucleated erythrocytes, which established the diagnosis of a giant chorangioma with evidence of fetal anemia. Baseline investigations of the neonate showed anemia and thrombocytopenia, complicated by cardiomegaly and hepatomegaly. Conclusion: Although histologically benign, large chorangiomas may be associated with adverse clinical outcomes for the fetus. Given their large size, they may clinically masquerade as acardius amorphous, especially if antenatal history or follow up is limited or absent.

Papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma are common subtypes of thyroid cancer, while hyalinizing trabecular tumor (HHT) of the thyroid is a rare peculiar type of follicular cell neoplasm. Although all three tumor types originate from thyroid follicular cells, the frequency of their co-presence in the same thyroid gland is unknown. Herein, we describe an extremely rare case with three types of concurrent thyroid neoplasms in one patient. This patient was a 60-year-old female who presented with large symptomatic multinodular goiter clinically. Fine needle aspiration of the right thyroid nodule showed atypia of undetermined significance. She then received total thyroidectomy. Microscopically, there were 3 types of tumors identified: multifocal (x4) PTC (largest focus 1.5 cm) with focal tall cell features, encapsulated angioinvasive oncocytic carcinoma (8.2 cm), and a small HHT (0.6 cm). The HHT was encapsulated, containing spindled to polygonal cells with oval to elongated nuclei arranged in a trabecular growth pattern. The PTC and oncocytic carcinoma were diagnosed by morphology only. The diagnosis of HHT was confirmed by immunohistochemistry showing the tumor cells to be positive for pan-cytokeratin, thyroglobulin, TTF-1, and PAX8, while negative for synaptophysin, chromogranin, and calcitonin. Next generation sequencing demonstrated different molecular alterations: BRAF V600E mutation in PTC; NRAS mutation in oncocytic carcinoma, and HRAS mutation in HHT. This is the first case report of triple thyroid neoplasms occurring synchronously in one patient. The unique genetic alteration of each individual tumor suggests different pathogenetic mechanisms.

Anaplastic lymphoma kinase-positive (ALK+) anaplastic large cell lymphoma (ALCL) is a T-cell lymphoma consisting of large lymphoid cells expressing ALK and CD30. It frequently occurs in patients younger than 30 years. However, this case reports a 90-year-old Japanese woman with ALK+ ALCL. The clinicopathological and genetic results of our case are presented. Although the clinical diagnosis suggested lymphoma with enlarged left supraclavicular and axillary lymph nodes and high levels of soluble interleukin 2 receptors, the initial pathological diagnosis suggested metastasis of undifferentiated carcinoma. This is attributed to the cohesive growth with fibrous stroma and immunohistochemical findings, which were positive for epithelial membrane antigen and negative for leukocyte common antigen. Additional immunohistochemistry revealed positivity for ALK and CD30, and Southern blot analysis demonstrated the rearrangement of T-cell receptor and immunoglobulin genes. Pathologists should include ALCL as a differential diagnosis when epithelial membrane antigen-positive large tumor cells lack pancytokeratins and leukocyte common antigen. Moreover, the occurrence of ALK+ ALCL should not be overlooked in older patients.

It is hypothesized that cells of intraductal papillary mucinous neoplasms (IPMNs) of the pancreas can move through the pancreatic duct and seed to form a new tumor (intraductal spread). Although this hypothesis typically refers to recurrent IPMNs in the remnant pancreas of patients who underwent operation for IPMN, studies providing sufficient evidence to prove this hypothesis are limited. Furthermore, if pancreatic ductal adenocarcinoma (PDAC) occurs in the remnant pancreas of patients who underwent complete resection for IPMN, any recurrence of PDAC with no associated IPMN is generally considered independent of prior IPMN. Here, we present a case of a minimally invasive IPMN occurring in the head of the pancreas that recurred as a PDAC in the tail of the pancreas ten years after the first operation for IPMN, likely via intraductal spread. Although the IPMN was surgically resected with negative margins and the recurrent adenocarcinoma did not accompany an IPMN, we found that both lesions shared an exceedingly rare KRAS mutation (p.A11delinsGGGV). Furthermore, we identified a microscopic, low-grade intraepithelial lesion in the main pancreatic duct adjacent to the adenocarcinoma that also harbored the same KRAS mutation. Immunohistochemically, the intraepithelial lesion retained SMAD4 expression, whereas the recurrent adenocarcinoma showed loss of SMAD4 expression, indicating that the intraepithelial lesion was a pancreatic intraepithelial neoplasia (PanIN) rather than adenocarcinoma (cancerization of the duct). These findings suggested that the initial IPMN, recurrent adenocarcinoma, and PanIN were clonally related, and intraductal spread of precursor neoplastic cells may have played a role in developing the adenocarcinoma. This case provides new insight into the process of how metachronous PDAC occurs in patients who undergo complete resection for IPMN.

Reports of renal oncocytoma with intracytoplasmic vacuoles are exceedingly rare. In addition to 5 prior reports, we present a novel case of renal oncocytoma with cytoplasmic vacuolation. A 69-year-old male patient underwent partial nephrectomy to remove the 3.8 cm tumor. Tumor cells showed typical morphologic and immunohistochemical features of renal oncocytoma, with the additional feature of diffuse, oval-round cytoplasmic vacuoles containing pale amphophilic material. Distinct eosinophilic cytoplasmic inclusions were also present, which were shown to be giant mitochondria on ultrastructural examination. Cytoplasmic vacuolation has been described in other renal tumors, namely succinate dehydrogenase deficient renal cell carcinoma and eosinophilic vacuolated tumor, both of which were ruled out in the current case. Our case is the first to confirm the presence of giant mitochondria in a vacuolated renal oncocytoma, and the second to associate mitochondria as the origin of these vacuoles. Future identification of additional cases would shed more insight on the etiology and pathobiological significance of this rare tumor morphology.

Acquired amegakaryocytic thrombocytopenia (AAMT) is a rare hematological disorder characterized by prolonged, severe thrombocytopenia, and reduced megakaryocytes on otherwise normal bone marrow biopsy. We report three cases of which two ultimately responded to treatment with eltrombopag, and one who one succumbed to illness despite treatment with multiple agents. These cases emphasize the difficulty of diagnosis and treatment of this rare condition.

Biomarker testing has increasingly been adopted in oncology for diagnostic, prognostic, and predictive purposes. Several tumor types undergo reflexive biomarker testing, including immunohistochemistry and next generation sequencing (NGS), to screen for hereditary tumor predisposition syndromes and identify optimal treatment regimens. Routine clinical biomarker testing, however, does not identify less common hereditary cancer syndromes, which instead requires comprehensive genomic profiling (CGP). This report describes the case of a patient with occupational exposure to asbestos who developed peritoneal mesothelioma and experienced a dramatic response to platinum-based chemotherapy. Shortly thereafter, he was diagnosed with metastatic sinonasal melanoma. The uncommon co-occurrence of these two primary malignancies prompted analysis of the patient’s mesothelioma by CGP, which identified a pathogenic BAP1 splice site mutation (c.438-1G > A, NM_004656.4, 71 % allele frequency). The melanoma was subsequently evaluated using a clinical NGS panel and found to harbor the same mutation (84 % allele frequency), strongly suggesting that the pathogenic variant is present in the patient’s germline (diagnostic of BAP1 tumor predisposition syndrome). These results enabled recommendation of germline testing and suggestion of active clinical trials of targeted therapy to the treating physician, highlighting the important role of CGP in the delivery of precision medicine.