Case Reports in Pathology最新文献

Salivary duct carcinoma (SDC) is an uncommon neoplasm that often develops early regional and distant metastasis. Standard treatment for SDC is wide surgical resection along with lymph node dissection followed by adjuvant radiation therapy. The role of adjuvant chemotherapy is not clear with an overall low survival rate. SDC resembles high-grade invasive ductal carcinoma (IDC) of the breast both histologically and by immunohistochemistry (IHC). Fusions involving microtubule-associated serine/threonine (MAST) kinases have been suggested to play role in a subset of breast cancer, although the exact mechanism remains unclear. In this report, we present a case of SDC harboring a novel exon 1 of SZT2 joined to exon 4 of MAST2 leading to a likely pathogenic SZT2::MAST2 fusion. Given the reported fusions involving the MAST kinases in breast cancer, this finding demonstrates an additional similarity between these two tumor types.

Cribriform adenocarcinoma of the salivary glands (CASG) is a rare tumor of minor salivary glands, predominantly of the oral cavity, characterized by distinct morphologic and immunophenotypic features. In this article, we describe a unique case of CASG arising in the sinonasal cavity of a 49-year-old female, with a novel NAP1L1::PRKD1 fusion, expanding the molecular complexities of salivary gland neoplasms. This neoplasm showed typical morphology with nests of tumor cells with cribriform and papillary architecture and a classic immunohistochemical profile with tumor cells positive for S100 and p63 while negative for p40. Molecular studies showed a NAP1L1::PRKD1 fusion, which has not been previously detected in cribriform adenocarcinoma.

Introduction: Adult rhabdomyoma (ARM) is an exceedingly rare benign neoplasm accounting for less than 2% of all striated muscle tumors. Originating from striated muscle cells, it primarily occurs in the head and neck region but is particularly rare in the parapharyngeal space.

Case presentation: We report a case of a 64-year-old male patient who presented with a 6-month history of progressive dysphagia and globus pharyngeus. CT and MRI scans revealed a well-defined multilobular mass in the right parapharyngeal space. Surgical excision was performed, and histopathological evaluation confirmed ARM. ARM diagnosis presents a challenge due to nonspecific clinical and radiological manifestations. Histopathological examination remains the gold standard for definitive diagnosis. Surgical excision is the treatment of choice, and close postoperative monitoring is crucial due to high recurrence rates.

Conclusion: This case highlights the diagnostic challenges and treatment modalities for ARM in a rare anatomical location. A multidisciplinary approach incorporating radiological, cytological, and histopathological evaluations is essential for accurate diagnosis and effective management.

Gestational diabetes mellitus (GDM) affects approximately 2%-17.8% of pregnancies, with preexisting diabetes also contributing to significant fetal risks. Despite advancements in obstetric and medical care, pregnancies complicated by maternal diabetes continue to carry a higher likelihood of fetal loss compared to nondiabetic pregnancies. Infants born to diabetic mothers (IDMs) are predisposed to complications such as birth trauma, respiratory difficulties, metabolic derangements including hypoglycemia and hypocalcemia, jaundice, increased blood viscosity, and various congenital anomalies-all potentially contributing to fetal mortality. We report the autopsy findings of a male IDM, born to a 25-year-old primigravida conceived via intrauterine insemination (IUI) with GDM, delivered at 38 weeks and 3 days of gestation, weighing 3.1 kg with reassuring Apgar scores at birth. Despite an apparently uncomplicated delivery and no immediate congenital anomalies detected, the infant developed sudden respiratory distress and unresponsiveness at 90 min of life, leading to unsuccessful resuscitation efforts. The autopsy revealed hallmark features of maternal-fetal glucose imbalance, including cardiopulmonary hypertrophy, hepatomegaly, immature lungs, pulmonary hypertension, and marked pancreatic islet cell hyperplasia. Inflammatory changes in the meninges and hypoxic neuronal injury were also observed. No structural malformations were identified. Although neonatal autopsies are inherently challenging, they provide critical insights that may influence neonatal care practices and guide future genetic counseling for affected families.

Hepatoid adenocarcinoma (HAC) is a rare extrahepatic adenocarcinoma characterized by hepatocellular differentiation. HAC arising in the gallbladder is rare. We report a case of intracholecystic papillary neoplasm (ICPN) with HAC, most of which were tumor thrombi. The patient was a 78-year-old Japanese woman diagnosed with a gallbladder mass, detected by ultrasonography. She underwent cholecystectomy with lymph node dissection. Histopathological examination revealed exophytic papillary growth consistent with ICPN with associated invasive carcinoma. Notably, many tumor nests displayed characteristics of HAC, including eosinophilic granular cytoplasm and solid trabecular patterns. Immunohistochemically, tumor cells were positive for AFP, Glypican 3, and Hep Par 1 but negative for SALL4. Our findings underscore the importance of recognizing HAC components in gallbladder lesions, particularly in the context of ICPN with associated invasive carcinoma, as they may significantly impact patient prognosis.

Introduction: Metastasis is a critical factor in colorectal cancer (CRC) outcomes, with 22% of patients presenting with metastasis at diagnosis and an eventual 70% experiencing it. This report highlights a rare case of ascending colon adenocarcinoma with metastasis to the kidney, underscoring the diverse and complex nature of CRC progression. Case Presentation: A 60-year-old man presented with abdominal discomfort, constipation, and rectal bleeding after colonoscopy revealed a colon mass, leading to a diagnosis of adenocarcinoma after colonoscopic biopsy. Initially without distant metastasis, he underwent four cycles of chemotherapy, but follow-up imaging 6 months later showed liver and renal metastases, prompting a colectomy and nephrectomy. Pathological examination confirmed moderately differentiated adenocarcinoma in both the colon and kidney, with staging indicating advanced disease, and the patient succumbed to his illness shortly after surgery. Clinical Discussion: Metastatic carcinomas to the kidney are uncommon, with CRC metastasis being particularly rare, as evidenced by a limited number of cases in the literature. Typically originating from primary tumors in the lung, liver, and gastrointestinal tract, renal metastases often present as well-defined lesions, complicating the differentiation from primary renal cancers. Our case highlights a solitary, well-circumscribed renal metastasis from CRC, emphasizing the diagnostic challenges and the need for careful evaluation in patients with known malignancies. Conclusion: Metastatic carcinoma of the colorectal tract is very rarely reported to the kidney, it does so at a higher stage of the disease with systemic disease and has a poor outcome for the patient.

Ectopic splenic tissue may arise as either a congenital anomaly or acquired seeding of fragments from a mechanically disrupted spleen. Regardless of the etiology, splenic tissue presenting at unexpected sites may lead to symptomatic or incidentally discovered lesions that may raise clinical suspicion for neoplasia. We present three cases of ectopic splenic tissue that were clinically ominous and necessitated pathologic tissue examination for definitive diagnosis.

While very commonly encountered in the uterus, in particular in the wall of the uterine corpus, leiomyomas are far less frequently found in extragenital sites in females. Atypical leiomyomas (synonyms: pleomorphic leiomyomas, leiomyomas with bizarre nuclei, bizarre leiomyomas, or symplastic leiomyomas) are a rare subtype of leiomyomas, characterized by cells with bizarre, pleomorphic-appearing nuclei without (or with extremely low) associated mitotic activity. Despite the cytologic appearance, such tumors have a benign clinical course. Although there are cases of leiomyomas appearing outside the uterus in a background of endometriosis, cases specifically of atypical leiomyomas in this setting are exceptionally rare. We present a case of an atypical leiomyoma arising from pararectal endometriosis in a patient presenting with endometriosis-associated primary ovarian clear cell carcinoma, metastasis to the bladder peritoneum, and a peri-intestinal lymph node, in addition to a concurrent ovarian fibroma.

Medulloblastomas are tumors of the posterior fossa that have a propensity to develop leptomeningeal metastases along the spinal cord, commonly known as "drop metastases." Medulloblastoma accounts for approximately 1%-2% of all adult brain tumors, and reports of primary leptomeningeal medulloblastoma are extremely limited. Herein, we present a rare case of a 34-year-old woman diagnosed with multifocal primary spinal leptomeningeal medulloblastoma without cranial involvement.

Collision tumors are rare tumors comprising two morphologically distinct tumors within the same organ without histological admixture. Thyroid collision tumors are extremely rare. We present a case of a 64-year-old male patient with a radiologically suspicious, TI-RADS-TR4 lesion in the right lobe of the thyroid. Fine needle aspiration cytology (FNAC) from the lesion was diagnosed as medullary thyroid carcinoma. Total thyroidectomy with central and right lateral neck dissection was performed. On histopathological evaluation, a collision tumor was identified. Components of the collision tumor were multifocal medullary thyroid carcinoma (MTC) and multifocal infiltrative follicular variant of papillary thyroid carcinoma (PTC). Several hypotheses have been suggested regarding the pathogenesis of the collision tumor. Further management and prognosis of the tumor depend on the component with the higher stage and more aggressive behavior. The case report emphasizes the need for thorough sampling of uninvolved areas in the specimen for microscopic evaluation and staging of each component.