Human Pathology Reports最新文献

Conjunctival stromal tumour (COST) is a rare and newly described mesenchymal tumour of the conjunctiva. We present a case of a slow-growing conjunctival lesion in a 54-year-old female. Due to persistent irritant symptoms, the lesion was excised. Histopathological assessment showed a paucicellular tumour set in an oedematous and collagenous background within the lamina propria. Significant nuclear degenerative atypia was noted. Lesional cells were positive for CD34 immunohistochemistry. The features were consistent with COST. The condition is typically unilateral and arises in the bulbar conjunctiva, with both inflammatory and neoplastic origins considered. They are sporadic and occur most frequently in adults. COSTs are indolent and managed effectively with complete surgical excision. Conjunctival myxoma is the most important differential diagnosis due to its association with the Carney complex, a potentially life-threatening condition that requires close clinical follow-up. Accurate recognition of COST and myxoma is crucial to stratify care appropriately.

Primary adenoid cystic carcinoma (ACC) accounts for less than 0.2 % of all primary lung malignancies. Here we present two cases of lung ACC (ACCL), first is a 65-year-old female who was diagnosed with ACCL and surgically treated at another institution. She presented with recurrent tumor which was resected at our hospital. No adjuvant treatment was given, and she is without any signs of residual tumor or recurrence after 6 months. The second case is a 68-year-old female with a right upper lobe nodule noticed in 2017 but declined biopsy due to fear of possible complications. In 2022 she underwent biopsy at our institution which showed ACCL and was treated surgically without adjuvant therapy. Till date she is with no evidence of residual tumor or recurrence. Multiple disciplines need to work together to provide the best patient care from accurate diagnosis to surgical resection and additional therapy. More research is needed to generate guidelines for treatment of this rare malignancy, especially the indications for chemotherapy.

Inflammatory myofibroblastic tumors are mesenchymal neoplasms made up of spindle cells with inflammatory infiltrates and are intermediate-grade tumors. Inflammatory Myofibroblastic Tumor (IMT) has a variant known as Epithelioid Inflammatory Myofibroblastic Sarcoma (EIMS) with aggressive behavior. Morphologically they have round to epitheliod cells that are positive for the Anaplastic Lymphoma Kinase (ALK) receptor tyrosine kinase. The abdomen and pelvis are the most common sites of involvement. Children and young adults are frequently affected. We report a rare case of EIMS arising on the serosal aspect of the ileocaecal junction in a 33-year-old male patient. Morphologically there were sheets and loose fascicles of epithelioid cells admixed with inflammatory cells in a variably myxoid background. Tumor cells were positive for Vimentin, Desmin, CD30, and Smooth muscle actin and showed cytoplasmic and nuclear membrane ALK positivity. Molecular studies in our case showed rearrangement of ALK by Vysis LSI ALK dual color break apart FISH probe. To our knowledge, this is the fifty-ninth reported case to date. Our case report highlights the clinical, histopathological, and immunohistochemical features of EIMS. Given their rarity and novelty, increased understanding and correct identification of the histological and immunohistochemical features of EIMS can result in an accurate diagnosis and focused treatment.

Micronodular thymoma with lymphoid stroma (MNTL) is a rare type of thymoma that is often found alongside Type A thymoma. Here, we present a case of MNTL diagnosed in an 82 year-old-female who had a thymus excision seven years prior. The posterior mediastinal mass was discovered incidentally in this patient after a mechanical fall and diagnostic imaging. The patient underwent a needle biopsy of this mass, the pathology of which initially demonstrated type A thymoma. Several months later, the patient underwent a video-assisted thoracoscopic surgery (VATS) procedure with resection of the mass. Pathology this time showed mixed areas of MNTL, type B3, and focal B2 types of thymoma. The location and the histological morphology of this tumor were unique. Treatment approaches to such cases should be multidisciplinary and individualized.

Langerhans cell histiocytosis (LCH) is a rare neoplastic disease characterized by abnormal proliferation of Langerhans cells infiltrating various organs, resulting in organ dysfunction. In some patients, the BRAFV600E mutation can be detected. Histopathology reveals a substantial proliferation of Langerhans cells, contributing significantly to the diagnosis of LCH. Clinical manifestations vary depending on the affected tissues or organs. LCH occurs less frequently in adults than in children, and clinicians often lack sufficient awareness of this disease, making it susceptible to misdiagnosis. In this report, a case of liver injury caused by Langerhans cell invasion is presented, as confirmed by a liver biopsy in adults.

Calcifying fibrous tumours of the pleura (CFTPs) are extremely rare benign tumours with uncertain aetiology, with only 34 cases, including this one, reported worldwide to date. CFTPs commonly originate from subcutaneous and deep soft tissues of the gastrointestinal tract and pleura. It is essential to differentiate CFTP from other pleural intrathoracic masses that present similarly but are challenging with radiological imaging alone. As a result, excision via surgical intervention alongside immunohistological and histological assessment is the current best method for definitive diagnosis. Due to the significantly low incidence of CFTP, extensive sample studies for further research are currently not possible. As a result, all cases of CFTP should be reported to help improve future research in diagnostic accuracy and understanding of pathogenicity and aetiology. We are reporting a case of an incidentally detected CFTP on CT in a 30-year-old female.

We report a case of a poorly differentiated somatic carcinoma with trophoblastic differentiation of the cervix in a 29-year-old woman. Her recent antecedent pregnancy, rising serum Beta-Human Chorionic Gonadotropin titres and cervical based site raised the possibility of a non-choriocarcinomatous gestational trophoblastic neoplasm. The available tumor morphology, although not classic, was suggestive of epithelioid trophoblastic tumor (ETT). Immunohistochemistry was equivocal in separating the two differential diagnoses of a carcinoma with trophoblastic differentiation versus an ETT. Genotypic analysis revealed that the tumor harboured an identical genetic profile to that of the normal tissue, excluding the possibility of an ETT. High-risk human papilloma virus (HPV) testing using a highly sensitive real-time PCR method confirmed the presence of an HPV16 subtype. We concluded that the tumor represents a poorly differentiated HPV associated squamous cell carcinoma.

A 60-year-old woman with marginal zone lymphoma was treated with obinutuzumab and bendamustine after failing rituximab. She later developed intractable nausea and diarrhea which resulted in a dramatic weight loss and multiple hospitalizations. During her hospital stay the patient had a colonoscopy and biopsy which identified apoptotic colopathy- a pathologic condition characterized histologically by apoptosis. Her apoptotic colopathy was ultimately attributed to bendamustine, a previously unidentified trigger of apoptotic colopathy. The patient was eventually discharged on total parenteral nutrition (TPN) and has regained weight with adequate control of her diarrhea.

Cerebral vein thrombosis (CVT) is a potentially fatal neurovascular disease that most commonly affects young women of child-bearing age. The risk of CVT has been reported to be increased by combined oral contraceptive (COC) use. Inherited thrombophilic conditions including factor V Leiden (FVL) and prothrombin G20210A mutation also increase the risk of CVT. Several studies have shown that a combination of risk factors including COC use plus an inherited thrombophilic disorder increases the risk of CVT in a multiplicative fashion. World Health Organization guidelines advise against the use of COC in women with hereditary thrombophilic defects due to the unacceptably elevated risk of thrombotic events. We report the case of a 16-year-old female with a six-week history of COC use who experienced 48 h of vomiting and ataxia and was found in cardiac arrest. Following cardiopulmonary resuscitation and hospitalization, brain imaging identified subarachnoid and intracranial hemorrhage. After a neurologic examination confirmed brain death, the patient expired. Genetic testing detected heterozygous mutations for both FVL and prothrombin G20210A. A brain only autopsy identified superior sagittal sinus thrombosis, subarachnoid hemorrhage, and foci of ischemic necrosis of the cerebral cortex. This case highlights the increased risk of CVT in patients with hereditary thrombophilia and oral contraceptive use. It is vital for physicians to identify risk factors for venous thrombosis and/or CVT prior to administration of COC.

Porocarcinoma (PC) is a rare malignant skin adnexal tumor, accounting for approximately 0.005% to 0.02% of all malignant cutaneous neoplasms. It occurs most commonly in the sun-exposed extremities. To our knowledge, only one case of a primary nipple eccrine poroma (benign counterpart of PC) has been reported in the literature. Herein we report a patient with a primary PC of the left nipple with metastasis to the left axilla.