Human Pathology: Case Reports最新文献

We report a case of a primary malignant solitary fibrous tumor (SFT) of the urinary bladder in a previously healthy 35-year-old male. The unusual presentation, focal GATA3 expression in the biopsy and the excessive rarity of the entity at the involved location all contributed to a challenging diagnosis, which was finalized with the resection specimen. Review of the literature highlighted the rarity of this tumor but revealed a relatively positive outcome, with no previous reports of disease recurrence. We therefore describe the first report of malignant bladder SFT associated with pulmonary metastases.

We report a case of high-grade endometrial stromal sarcoma originally assumed to be a benign leiomyoma, with BCOR internal tandem duplicates resulting in BCOR overexpression. A 34-year-old female presented to the gynecologic oncology service for recent miscarriage attributed to a large leiomyoma. She reported symptoms of vaginal bleeding and abdominal pain. Myomectomy and tissue analysis was performed which revealed BCOR internal tandem duplicates and cyclin D1 positive high grade endometrial sarcoma. Definitive treatment for the sarcoma was performed with pelvic washings, robotic assisted total laparoscopic hysterectomy with bilateral salpingo-oophorectomy, omentectomy, and pelvic lymph nodes dissection. Negative margins were obtained along with negative lymph node and omental sections. Her sarcoma was staged pT1b (FIGO 1B). At follow up, patient reported no symptoms and was informed no further treatment was indicated. It is rare for high grade endometrial stromal sarcoma (HG-ESS) to present in a 34-year-old woman, though BCOR internal tandem duplicate (ITD) high grade endometrial stromal sarcoma is more common in younger women. This patient also had a unique finding in the pathology report, positive progesterone receptor (PR) expression, making this an interesting but difficult diagnosis.

Approximately 24 cases of cytokeratin-positive interstitial reticulum cell tumors have been reported in English literature. In this paper, we report a case of cytokeratin-positive interstitial reticulum cell tumor that was localized in the parafollicular region of the axillary lymph node and was an incidental finding in a patient with breast cancer. A 50 year-old woman underwent a mastectomy and lymph node dissection following a preoperative diagnosis of bilateral breast cancer. Histopathological examination revealed that the patient had non-invasive and invasive ductal carcinoma in the right and left mammary glands. Although we could not detect breast cancer metastasis in the lymph nodes, one of eight right axillary lymph nodes harbored an 11 × 8 mm discohesive sheet of large polygonal epithelioid tumor cells in the parafollicular area. Tumor cells were immunoreactive for AE1/AE3, CAM5.2, CK18 and l-caldesmon and negative for CD1a, CD21, CD23, CD31, CD68, and S‑100 protein markers. Based on these findings, the lesion was diagnosed as a cytokeratin-positive interstitial reticulum cell tumor of the lymph node. Notably, this early-stage cytokeratin-positive interstitial reticulum cell tumor demonstrated focal nuclear YAP/TAZ proto-oncogene products, which were recently identified as critical for differentiation, maturation, and function of fibroblastic reticular cells. To the best of our knowledge, this is the first report to describe nuclear YAP/TAZ immunoreactivity in cytokeratin-positive interstitial reticulum cell tumors.

Xanthogranulomatous inflammation of the female genital tract is a rare entity with less than thirty cases being previously reported in the literature. It is characterized by destruction of the normal tissue followed by replacement with inflammatory cells and lipid- laden macrophages. In this report, we present a 55-year-old African American female with history of diverticulosis and use of intrauterine device, who presented with xanthogranulomatous inflammation extensively involving the fallopian tubes and ovaries, and concomitant diverticular perforation.

Sclerosing mucoepidermoid carcinoma with eosinophilia (SMCE) is a rare subgroup of mucoepidermoid carcinoma characterized by dense stromal sclerosis and marked eosinophil infiltration. We herein describe two Japanese cases of SMCE. The patients were a 60 year-old female and a 67 year-old female, and each had a tumor of the parotid and upper lip, both of which were successfully removed with no signs of recurrence or metastasis. Histologically, the tumors consisted of round or polygonal, and partly spindle-shaped squamous cells with generally scant keratinization, which formed small and large invasive nests in the background of dense sclerotic stroma with marked eosinophil infiltration. Only a small number of mucus-producing cells and cytoplasmic mucin vacuoles were observed. The second case was unique in its presentation of melanin pigmentation, which is rarely found in oral tumors. Fluorescence in situ hybridization for MAML2 was performed, but no clear split signals were confirmed in either case. The histogenesis of SMCE, which is possibly different to that of ordinary mucoepidermoid carcinoma or the other counterpart of sclerosing mucoepidermoid carcinoma lacking eosinophilia, is further discussed comparing their genetic backgrounds. Their pathological features and diagnostic problems are also detailed.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive genetic disorder in which the proper function of lysosome-related organelles (LROS) is impaired due to mutation in one of several well-characterized genes, including, but not limited to: HPS1, HPS3, and HPS4. Clinical manifestations include oculocutaneous albinism, nystagmus, platelet dysfunction, progressive pulmonary fibrosis, and granulomatous colitis. We present a case of a 28-year-old woman of Puerto Rican descent who required post-partum lung transplantation due to an inherited HPS1 mutation. The pathologies observed in HPS underline the mechanistic importance of LROS in a variety of tissue types and organ systems.

Atypical spindle cell/pleomorphic lipomatous tumor (ASPLT) is a newly accepted entity that belongs to the group of low-grade adipocytic neoplasms. ASPLT commonly manifests a soft tissue mass in both upper and lower extremities but is extremely rare in the gastrointestinal tract. Here we report a case of a gastric ASPLT in a 59-year-old male, who presented for the evaluation of new onset of dysphagia. To our best knowledge, this is the first case report of ASPLT in the upper gastrointestinal tract.

Solitary fibrous tumor (SFT) is a rare mesenchymal tumor, which can be seen in varied anatomic locations, most commonly arising in the lung/pleura. SFTs of the gastrointestinal tract are exceedingly rare. Herein we report a case of SFT presenting as a 35 mm polyp in the descending colon, arising from the submucosa, that was found during routine screening colonoscopy in a 66 year old male. This was clinically felt to be a lipomatous lesion. Histologic sections demonstrated a spindle cell lesion with haphazard/patternless architecture, hyalinized collagen, and dilated, ectatic, irregularly shaped “staghorn” vessels. Mitoses were infrequent. Immmunostains demonstrated the neoplastic cells were positive for CD34 and STAT6; while they were negative for c-Kit, DOG1, SMA, and S100, confirming the diagnosis of SFT. The patient was disease free following the procedure. To our knowledge, this is only the second reported case of SFT presenting as a polyp, arising from the submucosal layer of the colon.

This report describes a 70-year-old male with bilateral primary adrenal lymphoma (PAL) characterized as non-germinal center diffuse large B-cell lymphoma (DLBCL). PAL is a very rare, aggressive disease with a poor prognosis. Our patient presented with B symptoms, chills, and nausea. Imaging studies of his abdomen revealed rapidly enlarging bilateral adrenal masses. Computed tomography (CT) guided left adrenal mass core biopsy showed diffuse sheets of neoplastic cells with irregular nuclear contours, vesicular to hyperchromatic chromatin, and prominent nucleoli. The neoplastic cells demonstrated an immunohistochemistry (IHC) profile consistent with DLBCL. Markers assessing for melanoma and neuroendocrine tumors were negative. Fluorescence in situ hybridization (FISH) revealed BCL6 rearrangement. The diagnosis of primary adrenal DLBCL, non-germinal center subtype, was rendered. The patient’s chemotherapy is ongoing; six cycles of R-CHOP chemotherapy (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) induced significant clinical and radiological response.

The differential diagnosis is broad in patients with adrenal insufficiency and bilateral adrenal masses, and our case clinically centered on metastatic melanoma in the differential. Thorough pathologic evaluation of tissue, including an extensive IHC panel, was warranted for this patient due to the rarity of PAL and due to the morphologic overlap between melanoma and DLBCL.

We report a rare case of sclerosing epithelioid fibrosarcoma (SEF) arising in the anterior mandible of a 49-year-old male confirmed by the detection of an EWSR1-CREB3L3 fusion gene. SEF of the oral cavity is rare. To our knowledge this case marks the twelfth reported case to date. Our report and review of the literature highlights the molecular, immunophenotypic, and unique clinicopathological features of SEF in the oral cavity, specifically, its predilection for the jaw bones. Although SEF is usually a malignancy of soft tissue, nine (75%) of the reported oral cavity cases have occurred as a primary jaw neoplasm. The mandible represents the most common location with seven cases, while two occurred in the maxilla. These findings suggest a propensity for bone involvement in the oral cavity, which may be a feature unique to this site.