Case Reports in Pathology最新文献

Mucormycosis is a severe invasive infection caused by the Mucorales fungi. The most frequently implicated genera are Rhizopus species, Mucor species, and Lichtheimia species. These fungi do not typically cause infections in immunocompetent individuals. Risk factors include diabetes mellitus, malignancies, transplant recipients, and current or past COVID-19 infection. Mucorales have also been linked to outbreaks in healthcare settings and following natural disasters. We describe a case of rapidly progressing rhinosinusitis in a patient with advanced HIV infection due to Saksenaea oblongispora, a rare cause of mucormycosis that, in contrast to the other Mucorales, primarily affects immunocompetent hosts following traumatic inoculation. A 32-year-old male patient presented with right-sided facial swelling. His clinical condition deteriorated rapidly. Biopsies and computerized tomography (CT) of the brain and sinuses were performed. Tuberculosis and bacterial workups were negative. Histological examination showed thick-walled angioinvasive fungal elements. Fungal cultures were positive. Molecular testing identified the organism as S. oblongispora. Due to his rapid deterioration, he neither underwent surgical intervention nor received any antifungal therapy and subsequently demised. This is the first case of S. oblongispora infection described in sub-Saharan Africa and in the setting of HIV. Infection by this fungus accounts for approximately 3% of human mucormycosis cases. S. oblongispora-associated rhinosinusitis is extremely uncommon and has been associated with rapid progression with high morbidity and mortality. A combination of different testing platforms was required to make a diagnosis. This case emphasizes the challenge of diagnosing invasive mold infections timeously. A high index of suspicion, combined with a multidisciplinary diagnostic and treatment approach, is essential for the management of these infections.

Ewing sarcoma is a rare but aggressive type of cancer, primarily occurring in teenagers and young adults, characterized by having a small round cell morphology with positive diffuse membranous CD99 immunostaining of these small round blue cells. Although this cancer is often found in bones, it can also extend into the soft tissue in some cases. A gene fusion of one of the FET family RNA-binding proteins, including EWSR1 and FUS genes as 5⁣' partners, and one of the ETS family transcription factors as 3⁣' partners, is the defining genetic characteristic of essentially all Ewing sarcoma cases. We report a case of a 42-year-old male individual with retroperitoneal Ewing sarcoma who underwent chemotherapy treatment following the biopsy diagnosis that revealed the FUS::FLI1 fusion. To the knowledge of the authors, this is the first report of response to chemotherapy in a case of Ewing sarcoma showing a rare FUS::FLI1 fusion.

Sacrococcygeal teratomas (SCTs) are rare in adults, and malignant transformation within these tumors is exceedingly uncommon. The risk of malignant transformation among adults can vary between 1% and 12% and increases over time with the endopelvic location. Here, we present a case of invasive adenocarcinoma with intestinal and pancreatobiliary features arising from a preexisting SCT in a 64-year-old female. The patient presented with a rapidly enlarging sacral mass and purulent drainage decades after the excision of a congenital lump in the sacral region. Imaging revealed a lytic lesion involving the coccyx and sacrum, accompanied by an ill-defined soft tissue mass. Histological evaluation confirmed adenocarcinoma with dual intestinal and pancreatobiliary differentiation originating from a preexisting SCT with focal involvement of the resection margin. Postoperatively, a multidisciplinary team recommended FOLFIRINOX chemotherapy followed by completion excision surgery. This case contributes to the limited literature on adult SCTs with malignant transformation, highlighting the critical need for timely and comprehensive management. Multidisciplinary evaluation, complete surgical resection, and tailored adjuvant therapy are essential to improving patient outcomes in such rare cases.

Similar to that in other organs, colorectal micropapillary adenocarcinoma (MPA) shows aggressive biological characteristics and reverse polarity (RP). Inhibiting the RP may reduce cancer aggressiveness; however, the pathogenesis of RP remains unclear. We encountered a case of colorectal MPA with tumor-infiltrating neutrophils (TINs), which were suspected to be involved in micropapillary morphogenesis. We examined the case using immunohistochemistry, including luminal differentiation (LD) markers. Numerous TINs were found within the background MPA tumor components, and there were scattered tumor cell detachments from the stroma and disruption of glandular structures. Furthermore, the ruptured lumens were connected to the lacunar stromal spaces created by the tumor cell detachment, and floating isolated tumor cell clusters were observed. Immunohistochemistry suggested that most of the TINs had immunosuppressive and tumor-promoting properties and that the tumor cells that have lost adhesion to the stroma and/or intercellular contacts acquired new LD. Such tumor cell changes have been observed in our previous report on tumors with frequent apoptosis. Based on this case, we suggested that (1) the essence of RP in MPA comprises new LD/apical polarity in tumor cells, which have lost glandular polarity secondary to exfoliative and destructive changes, and (2) the cause of RP might be multifactorial.

Background: Carney complex (CNC) is a group of disorders characterized by endocrine hyperactivity or tumors, abnormal skin pigmentation, myxomas of the skin and heart, and adrenocortical and pituitary tumors; in most cases, the disorder is inherited in an autosomal dominant manner. Case Presentation: We, herein, report a female patient who had undergone a total of seven left parotid tumor resections since the age of 45 years. At age 50, genetic testing confirmed a c.597del C (p. Phe200LeufsX6) mutation in the type-1α regulatory subunit of cAMP-dependent protein kinase (PRKAR1A); this led to a diagnosis of CNC for the patient and the patient's second and third daughters. At the age of 55, the left parotid gland became rapidly enlarged, and surgery was performed because recurrence was suspected. Intraoperative rapid pathological diagnosis revealed a mucous tumor with an unknown differentiation grade; considering the possibility of malignancy, resection was thus performed. The specimen from the first surgery at our hospital contained an S100⁺, CD34⁺ mucinous spindle cell tumor. During follow up, the patient was treated as a case of atypical myxoid tumor with low-grade malignancy. Due to recurrence at 60 years old, surgery was performed. The tumor was sheet- and cord-like, partially saccular, and had a cribriform pattern of spindle-shaped or linear atypical cells; the stroma contained abundant myxomatous matrix deposits. Approximately 1% of the tumor cells were S100⁺, CD34⁺, SOX10⁺, and MIB-1 positive, and the growth was diagnosed as a myxoid low-grade malignant peripheral nerve sheath tumor (MPNST). Conclusion: We believe this is the first report of a CNC patient developing a myxoid MPNST derived from the salivary glands.

Benign osseous metaplasia of the breast is an extremely rare breast lesion. This is a report of a 79-year-old woman who presented with a right breast lesion. The lesion was found incidentally on computed tomography (CT) scan examination of the chest. Subsequent mammogram showed coarse calcification within a round circular area measuring approximately 12 mm in size. Ultrasound examination showed an ill-defined 9 × 9 × 9 mm hypoechoic lesion with calcification and internal vascularity. Histologic examination of the excised lesion showed features of benign osseous metaplasia. There was no evidence of atypia and malignancy. The subsequent immunohistochemistry confirmed the diagnosis. The immunohistochemical staining for epithelial markers-pancytokeratin (AE1/AE3), Cam 5.2, HMWCK (34Be12), and CK5-was negative in the stromal component, which ruled out a metaplastic carcinoma. Osseous metaplasia occurs in association with a wide variety of benign and malignant breast lesions. However, primary benign osseous metaplasia in the absence of breast disease is an extremely rare entity. The case presented here is a reminder that osseous metaplasia can occur in the breast in isolation. The case also emphasizes the value of thorough histopathological examination in making the diagnosis, as clinical and imaging studies cannot differentiate between neoplastic and non-neoplastic lesions as well as benign and malignant neoplasms with certainty.

Background: Cerebral pleomorphic xanthoastrocytoma (PXA) in patients with Neurofibromatosis Type 1 (NF1) is truly a rare entity. Intraventricular anaplastic PXA (APXA) is an even more uncommon presentation, with only three cases reported in the literature. Case Description: We present the case of a 30-year-old female with known NF1 who developed an intraventricular WHO Grade 3 PXA. The tumor was initially resected but recurred aggressively, requiring further surgery and adjuvant therapy with radiation, lomustine, and bevacizumab. Despite treatment, the tumor continued to progress, and the patient's clinical course deteriorated. Discussion: Distinguishing Grade 3 PXA from epithelioid glioblastoma can be diagnostically challenging and often requires further molecular testing. Aggressive multimodal therapy including maximal safe resection, radiation, and chemotherapy may be warranted, but outcomes remain poor. The challenging location of this patient's tumor in the ventricular system added to the complexity of overall treatment. Furthermore, the association of WHO Grade 3 PXA with NF1 is exceedingly rare, and the optimal management and prognosis of this rare tumor in the setting of NF1 are not well established. Conclusions: This case report highlights the unique challenges in diagnosing and managing intraventricular WHO Grade 3 PXA, particularly in the context of NF1. Additional research is necessary to enhance the understanding and effective management of these rare and aggressive tumors.

For deep-seated lesions, fine needle aspiration (FNA) under imaging guidance may be crucial to secure material for definitive diagnosis and further management. Rarely, components other than cells and tissue fragments may be visualized upon microscopic scrutiny following biopsy. These findings may lead to confusion in diagnosis. We describe two cases in which refractile foreign materials caused diagnostic challenges. The material in the first case turned out to be barium crystals left at a prior procedure for imagining study. The material in the second case was most likely starch-based material the patient aspirated or inhaled. These two cases highlight the importance of attention to details and judicious use of polarized microscopy.

Choroid plexus tumors (CPTs) are rare neoplasms. Patient presentation varies depending on the location of the lesions. Gross total resection of primary lesions remains the gold standard for surgical treatment of CPTs. Here, we present the case of a 22-year-old male patient with 2-day history of abnormal body movement and headache who was found to have an enhancing mass of the lateral ventricle. The patient underwent craniotomy for gross-total resection of the lesion, with final histopathology demonstrating WHO Grade II aCPP.

Background: Schistosomiasis is a widespread parasitic disease that affects various organs, including the female genital tract. Female genital schistosomiasis can lead to significant reproductive morbidity, such as ectopic pregnancies and infertility. Case Presentation: A 27-year-old woman with a history of recurrent spontaneous abortions presented with acute abdominal pain. She was diagnosed with a ruptured left ectopic pregnancy. Histopathologic examination of the resected tissue revealed numerous Schistosoma haematobium eggs within the ovarian parenchyma and fallopian tube, surrounded by granulomatous inflammation. The patient was treated with praziquantel and informed about the possible effects of schistosomiasis on her reproductive health. Conclusion: This case emphasizes the importance of considering female genital schistosomiasis in women from endemic areas with ectopic pregnancies and recurrent pregnancy loss. Early diagnosis and treatment are essential to prevent long-term reproductive sequelae.