Human Pathology Reports最新文献

Intrahepatic cholangiocarcinoma (ICCA) is classified into two main subtypes: small duct and large duct types. Small duct ICCAs are typically mass-forming (MF) type, while large duct ICCAs usually present as the periductal-infiltrating (PI) or the intraductal-growing (IG) type. We report an unusual case of small duct ICCA with both MF and IG growth patterns in a male in his early 70s with a 2.4-cm liver mass. Grossly, there was an extensive intraductal lesion and a small MF-type parenchymal nodule. Immunohistochemistry demonstrated the intraductal and invasive components were positive for CK7, CK19, EMA, and NCAM. The intraductal component showed focal immunoreactivity to alpha-fetoprotein and glypican-3, indicating focal hepatocellular differentiation. These features were consistent with small duct ICCA with secondary intraductal extension rather than a pre-existing intraductal tubulopapillary neoplasm (ITPN), demonstrating small duct ICCA can extend into bile duct lumens forming secondary intraductal lesions.

Malignant hyperthermia is a rare hypermetabolic pharmacogenetic pathologic disorder of calcium release control in skeletal muscle following exposure to depolarizing muscle relaxants and inhalational anesthetics in general anesthesia. This report describes the case of a 32-year-old man undergoing emergency laparotomy after being shot in the stomach. The patient suffered a malignant hyperthermia attack following the administration of Succinylcholine to induce anesthesia and Isoflurane to maintain anesthesia. Eventually, we were able to treat the patient for malignant hyperthermia successfully.

Plexiform schwannoma (PS) is a rare tumor that accounts for only 5 % of all schwannomas. Most cases are small, measuring less than 3 cm in diameter, and involve the skin and superficial tissue of the head, neck, or trunk. The location of the pelvis is extremely rare for PS and even so for ordinary schwannomas. We report on our case of a four-year-old Arabic boy who presented with a palpable mass in the perineum. This was found to represent an extrapelvic extension of a large intrapelvic plexiform schwannoma measuring 8 cm in maximum dimension on magnetic resonance imaging (MRI). A diagnosis of plexiform neurofibroma was suspected. However, the mass was surgically resected and histologically confirmed to be benign PS. The location of the pelvis is extremely rare for PS and this clinical presentation with a perineal mass is unique to our case. Distinguishing PS from plexiform neurofibroma or malignant peripheral nerve sheath tumor is of utmost clinical importance. However, the preoperative diagnosis is often challenging due to nonspecific imaging features. The MRI findings highlighted here may help in the preoperative diagnosis of this rare pelvic tumor.

Objectives

Lineage switch in patients with B-ALL treated with blinatumomab has been previously reported. We present a case of blinatumomab-treated B-ALL with t(9;22)(q34.1;q11.2) (Ph + B-ALL) relapsing as a keratin-positive undifferentiated neoplasm with lack of B-cell, T-cell, or definitive myeloid antigens and persistent BCR::ABL1.

Results

A 47-year-old male with Ph + B-ALL (p190 fusion transcript) experienced early relapse and received multi-agent therapy including blinatumomab and achieved complete remission. Eleven months after initiation of treatment, he presented with a chest wall mass. Biopsy showed an immature- appearing neoplasm without lineage-specific differentiation, but with expression of keratin and retention of the BCR::ABL1. Subsequently, bone marrow relapse with keratin positivity and BCR::ABL1 was identified. The findings were most compatible with dedifferentiation and aberrant keratin expression of Ph + B-ALL.

Conclusions

We present, to our knowledge, the first reported case of an acute leukemia which relapsed as a dedifferentiated neoplasm and the second reported case of lymphoblastic leukemia with aberrant keratin expression in a patient with Ph + B-ALL and treatment including blinatumomab.

Soft tissue masses of the fingers have a broad differential, including both benign and malignant etiologies. Of these, lipomatous tumours of the finger are exceedingly rare, with the subset of neurolipomas, rarer still. Often referred to as lipofibromatous hamartoma (LFH), or lipomatosis of nerve, among more than ten other descriptive terms, these tumours are generally associated with macrodactyly and frequently involve branches of the median nerve of the upper extremity, leading to a spectrum of neurologic sequelae. These tumours represent a diagnostic challenge due to their rarity and neural involvement, which may complicate standard biopsy techniques. Optimal surgical management is dependent on the final diagnosis, if known, or clinical judgement when a biopsy is not feasible. We present a case of a 17-year-old male with an index finger lipomatous soft tissue mass with lesional enhancement seen on imaging. The decision was made to perform an excisional biopsy, with intralesional dissection and preservation of the involved digital nerve. Based on the pathologic findings, he was diagnosed with neurolipoma of the finger without associated macrodactyly. Given the benign nature of these lesions, marginal excision without sacrifice of the involved nerve is recommended. Still, a high index of suspicion should always be employed if an underlying malignancy is suspected in which case wide excision, or amputation would be the treatment of choice after the diagnosis is confirmed. The diagnostic, intraoperative, and postoperative findings of the case are discussed.

Lipomas are a benign, soft-tissue tumor consisting of mature adipocytes and present as a slow-growing, painless mass. Angiolipomas are a benign variant of the lipoma and consist of adipose tissue separated by a network of anastomosing capillaries. Rare reports of angiolipomas with vasculature demonstrating a “cavernous” appearance mimicking that of cavernous hemangiomas have been described in the literature. Herein, we report a case of a subcutaneous angiolipoma with a rarely described cavernous vascular proliferation, previously designated as a cavernous angiolipoma.

Primary hepatic perivascular epithelioid cell tumors (PEComas) are extremely rare soft-tissue tumors with few published reports. Herein, a case of a primary hepatic PEComa is reported, along with a review of relevant literature. A mass in the right lobe of the liver was observed during the treatment of a 24-year-old Thai woman with systemic lupus erythematosus. Imaging studies detected a liver mass in segments seven and eight. The patient underwent a right hepatectomy. A tan-brown expansile mass with well-defined borders measuring 3.5 × 4 × 3.3 cm was identified. The tumor consisted of atypical epithelioid cells arranged in a diffuse growth pattern. Thick-walled blood vessels, smooth muscle cells, myxohyaline stroma, and adipose tissue were not observed. HMB45, CD31, and actin were diffusely immunoreactive in the tumor cells, whereas CD117, S100, and hepatocyte-specific-antigen were not. Follow-up revealed recurrent hepatic tumors. This case has been described owing to the rarity of the tumor and the useful correlation between radiologic and pathological findings.

Advances in molecular biology techniques have led to the recognition of more molecularly defined renal entities. However, some molecular-defined renal cell carcinomas (RCC) exhibit heterogeneous morphologies. In recent years, TSC/mTOR and NF2 alterations in renal cancers have attracted considerable attention from pathologists, including several renal tumors that have been validated as different entities. The monoallelic MUTYH germline mutation has also recently been demonstrated to be a driver of tumorigenesis, which is relatively enriched in renal cancers and may predict the risk of metastasis. In the current study, we presented seven cases with TSC/mTOR alterations (two with fibromyomatous stroma, one concomitant with ELOC mutation, three eosinophilic solid and cystic RCC, and two RCC, NOS), four cases with NF2 mutations (one concomitant with FH mutation, one biphasic hyalinizing psammomatous RCC, and two RCC, NOS), and two cases with monoallelic MUTYH germline mutations (one collecting duct carcinoma and one papillary RCC). We observed that renal cancers harboring these mutations had a wide morphological spectrum. Renal neoplasms with TSC/mTOR mutations may have an indolent outcome. NF2-mutated RCC appeared to display calcification and sclerotic stroma. The identification of these renal cancers can help reduce the number of tumors diagnosed as RCC, NOS. However, whether they can be grouped into TSC/mTOR, NF2, or MUTYH -associated RCC requires further validation.

Introduction

Phyllodes tumor is a rare biphasic neoplasm of the breast that mainly affects middle-aged women. Ductal carcinoma in-situ and microcalcifications occurring within phyllodes tumors are rare. Calcifications detected radiologically in this context have been reported but poorly characterized in previous studies.

Case presentation

We have encountered a case of a 42-year-old woman with high-grade ductal carcinoma in-situ within a borderline phyllodes tumor. Radiologically, clumps of coarse microcalcifications were detected within the lesion. Local excision followed by total mastectomy with axillary dissection was performed. No tumor recurrence has been detected for eight years.

Conclusion

The presence of microcalcification is reported in less than a third (29%) of phyllodes tumors with a carcinoma component. Both benign-looking specks and suspicious coarse punctate clusters of microcalcifications had been described. The presence of microcalcifications within a phyllodes tumor should alert clinicians and pathologists of possible coexisting carcinoma components. Primary surgical excision with adjuvant therapies remains the mainstay of treatment.

Background

A new prognostic biomarker for colorectal cancer (CRC) is imperative and cyclooxygenase-2 (COX-2) has the potential as a new candidate. We aimed to investigate the differential expression of COX-2 and its relationship with clinicopathological features of colorectal neoplasms.

Methods

We retrospectively investigate 91 cases of colorectal adenoma and 215 cases of adenocarcinoma by immunohistochemical assessment of COX-2 expression in the neoplastic epithelial and stromal cells. The differential COX-2 expression and its association with clinicopathological features was statistically evaluated.

Results

Significantly high expression of COX-2 was observed in the cytoplasm of the epithelial cells of adenocarcinoma (66.0 %) and stromal cells of adenoma (50.5 %), whilst low expression was seen in the stromal cells of adenocarcinoma (5.1 %) and epithelial cells of adenoma (26.4 %), (P < 0.0005). The epithelial COX-2 overexpression of adenocarcinoma was significantly associated with moderate differentiation (p = 0.030), usual-type histology (p = 0.049), deeper invasion (p = 0.007), higher Astler Coller stage (p = 0.009), positive nodal metastasis (p = 0.011) and lymphovascular invasion (p = 0.005). In adenoma, high epithelial COX-2 expression showed significant association with advanced age (p = 0.008) and smaller adenoma (p = 0.034), while stromal COX-2 overexpression was significantly associated with low-grade dysplasia (p = 0.003). In the tumor microenvironment, COX-2 expression was observed mainly in the inflammatory cells, with weaker expression seen in the fibroblasts and vascular endothelial cells.

Conclusion

COX-2 overexpression is significantly associated with favorable characteristics of colorectal adenoma and advanced features of colorectal adenocarcinoma, thus portraying its potential as a prognostic biomarker for CRC detection.