Human Pathology: Case Reports最新文献

The relationship of Epstein-Barr virus (EBV) has been well characterized with a wide range of lymphoproliferative lesions and lymphomas of B-cell, T-cell, and NK-cell origin. However, the association of EBV with mantle cell lymphoma (MCL) is exceedingly rare and not well established. We report a case of classic MCL which transformed to pleomorphic MCL after a clinical course of 19 years. Particularly, EBV infection was detected in the transformed high-grade pleomorphic MCL. Molecular and genetic analyses confirmed the clonal relationship between the original and transformed lymphomas. To the best of our knowledge, there has only been one case reported in 2003 which documented an EBV-associated high-grade transformation of MCL. Therefore, our case report further expanded the spectrum of EBV in the pathogenesis of B-cell lymphoma transformation.

Trichoblastic carcinosarcoma is a rare biphasic malignant neoplasm showing trichogenic differentiation. The tumour shows both malignant epithelial and stromal components. A review of literature has shown that only ten cases have been reported so far. This could be due to under-recognition of this tumour or under-reporting of this entity. We report a further case of trichoblastic carcinosarcoma. Ours is a busy tertiary care centre with plastic surgery service and this is the first case diagnosed in our department over a period of fifteen years.

Mesonephric (Wolffian) remnants are relatively uncommon and incidentally noted lesions, predominantly in the gynecologic tract. Only a handful of cases have been reported in the prostate and periprostatic region. Similarly, mesonephric adenocarcinomas also have a predilection for the gynecologic tract. Owing to the rarity and morphologic pattern, both benign and malignant mesonephric proliferations can be diagnostic pitfalls, especially when encountered in male patients or non-gynecologic organs. Here we present a unique case of mesonephric adenocarcinoma arising in a background of mesonephric remnants in the urinary bladder and review literature to date.

Herein, we present the case of a 35-year-old man with a previous history of osteosarcoma of his left tibia followed by multiple episodes of bilateral pulmonary metastases. After being clinically free of disease for seven years, the patient developed a 23 cm mass involving his small bowel wall. To our knowledge, this is the largest reported case of metastatic osteosarcoma involving the small intestine. The metastasis was that of a conventional high-grade osteosarcoma with telangiectatic features. The unusual presentation of this metastasis could be secondary to increased long-term survival of patients with osteosarcoma following more advanced modern therapy.

Retroperitoneal lymphangiomas are uncommon lymphatic malformations that present as cystic masses, arise from isolated lymphatic vessels, and do not communicate with the normal lymphatic system. We report a rare case of retroperitoneal lymphangioma in a young man who presented with abdominal pain and diarrhea. The patient was successfully treated with tumor resection, and lymphangioma was confirmed by histopathological analysis. In addition to describing this case, we present a review of the clinical manifestations, pathological findings, radiological findings, and treatments associated with retroperitoneal lymphangioma.

Background

Pierre Robin Syndrome (PRS) is a rare congenital anomaly characterized by micrognathia, glossoptosis, and cleft palate. The PRS has been found to be associated with the cleft palate with the incidence of 1/8500 to 1/14000 births.

Case characteristic

We reported a case of a four-day-old male neonate without any familial history of congenital anomalies. The proband was having a symptom of micrognathia and glossoptosis with a concern of feeding and respiration.

Outcomes

Molecular analysis was performed by extraction of the DNA followed by the polymerase chain reactions and sequencing of the SOX9 gene. During the analysis of the sequence, c.448C > A mutation was found in exon 1 of the SOX9 gene. The parents were found to be heterozygous, while the proband was found to be homozygous. This mutation (c.448C > A) in exon 1 of the SOX9 gene leads to a change in triplet codon from CCG to ACG at position 150 (p. Pro150Thr).

Conclusion

The results of this study showed a positive association, suggesting that the gene SOX9 has a role to play. Although the genetic etiology of PRS is not clearly understood. The SOX9 gene codes for the SOX9 protein that controls the proper development of the facial structure. Thus, we hypothesized that PRS in this proband was caused by the haploinsufficiency of the SOX9 gene.

Background

Rosai-Dorfman disease (RDD) is a rare entity characterized by lymphadenopathy with dilated lymph node sinuses containing lymphocytes, plasma cells, and histiocytes exhibiting emperipolesis. IgG4-related disease (IgG4-RD) is relatively more common and is characterized by mass-forming lesions with dense lymphoplasmacytic infiltration, numerous IgG4 positive cells, fibrosis which is at least focally storiform, and obliterative phlebitis. Concomitant RDD and IgG4-RD is rare, and the significance of this association remains unclear.

Case presentation

A 64-year-old female presented with the gradual onset of a painful right gluteal mass. The mass was clinically suspected to represent an infected sebaceous cyst and was surgically resected. Histological examination revealed a mixed inflammatory reaction in adipose tissue. There were areas of histiocytic proliferation with phagocytosis of inflammatory cells (emperipolesis), predominantly lymphocytes and plasma cells. There was also prominent storiform sclerosis with dense collections of plasma cells. No obliterative thrombophlebitis was seen. Immunohistochemical staining highlighted S100-positive cells with emperipolesis, greater than 50 IgG4 positive cells per high power field, and an IgG4/IgG ratio of greater than 40%. The histologic and immunohistochemical findings were those of RDD with concomitant IgG4-RD.

Conclusions

There is limited literature on RDD with increased IgG4-positive plasma cells; and the exact relationship and clinical significance of this finding remains undetermined. We present here a case with combined RDD and IgG4-RD and review the relevant literature.

Hepatic adenomas are benign but carry risk of hemorrhage and malignant transformation, the latter complication being more common in those with β-catenin mutations. We report a case of hepatocellular carcinoma arising in a large inflammatory hepatic adenoma (9.2 cm) with β-catenin mutation. Gross pathology, radiology, and histopathology are shown. This case highlights the risk of malignant transformation that accompanies large tumor size, β-catenin activation, and reinforces the need for surgical intervention in such cases.

Biphenotypic sinonasal sarcoma (BSNS) is a rare recently described distinct spindle cell sarcoma which arises exclusively in the sinonasal region and is characterized by concomitant neural and myogenic differentiation. Before this neoplasm was characterized, most were classified as other entities including adult fibrosarcoma, monophasic synovial sarcoma and malignant peripheral nerve sheath tumor. By immunohistochemistry, these tumors characteristically express S100 and smooth muscle actin (SMA) and/or muscle specific actin (MSA). Most cases harbor rearrangements of PAX3 (paired box gene 3), and the most frequent translocation partner is MAML3 (mastermind like transcriptional coactivator 3). Herein, we described three cases of BSNS involving the nasal cavity with or without paranasal sinus involvement. We also did a literature review of the clinical features, histologic and immunophenotypic findings, cytogenetics, pathogenesis and behavior of this rare entity.

Malignant tumors in the sinonasal region are rare and account for only 0.2–0.8% of all cancers and 1–3% of all head and neck carcinomas. Among the confirmed cases, the involvement of the sphenoid sinus is even rarer, accounting for only 2–3% of paranasal sinus tumors (Osguthorpe et al., 1994; Esposito et al., 2006; DeMonte et al., 2000).

Neuroendocrine carcinoma of the sphenoid sinus as a primary lesion is very rare; due to its rarity, no standard treatment has been established. Staining for thyroid transcription factor-1 (TTF-1) has been shown to be useful in the definite diagnosis of primary lung tumors. However, cases of TTF-1-positive small-cell neuroendocrine carcinomas that did not originate in the lung have been reported in the literature. Herein, we report the case of a patient with TTF-1-positive small-cell neuroendocrine carcinoma of the sphenoid sinus as the primary lesion and multiple bone metastases; to the best of our knowledge, this is the first report of such a case. A 52-year-old woman presented with complains of numbness and pain that extended from the left cheek to the lower lip and continued for 2 months. Head magnetic resonance imaging showed a neoplastic lesion in the left sphenoid sinus. We performed a transnasal endoscopic tumor biopsy; based on the results of pathological and immunohistochemical examination, a diagnosis of TTF-1-positive neuroendocrine carcinoma of the left sphenoid sinus with multiple bone metastases was made. Despite treatment with Cyberknife therapy and chemotherapy, the patient died approximately 12 months after treatment initiation. The findings of this case may help elucidate the significance of TTF-1-positive cells in small-cell neuroendocrine carcinomas.