A rare case of ectopic ACTH syndrome caused by primary renal neuroendocrine tumor.

SUMMARY: Ectopic adrenocorticotropic hormone (ACTH) secretion is responsible for 5-15% of Cushing's syndrome (CS). Neuroendocrine tumor (NET) is a common cause of ectopic ACTH syndrome (EAS). However, primary renal NET is exceedingly rare. Fewer than 100 cases have been reported and only a few cases presented with CS. Because of its rarity and lack of long-term follow-up data, clinical manifestations, biological behavior and prognosis are not well understood. Here, we report the case of a 51-year-old man who presented with clinical and laboratory findings compatible with EAS. CT scan revealed a lesion of uncertain nature at the lower pole of the left kidney. Octreotide scan found a filling defect at the lower pole of left kidney. It was difficult to determine if this finding was the true etiology or an incidental finding. Unfortunately, the patient's clinical status rapidly deteriorated with limited medical treatment. The patient underwent left nephrectomy and left adrenalectomy. Histopathological examination confirmed NET with oncocytic features. Immunohistochemistry staining was positive for ACTH. The patient's condition gradually improved. Additionally, glucocorticoid replacement was required only 6 months during a gradual recovery of hypothalamic pituitary adrenal axis achieved approximately three years after tumor removal. Although extremely rare, primary renal NET should be considered as a cause of EAS particularly in a patient with rapid clinical deterioration. Thorough investigation, early diagnosis and careful management are crucial to reduce morbidity and mortality. LEARNING POINTS: Primary renal NET is an extremely rare cause of ectopic ACTH syndrome. Ectopic ACTH syndrome has a rapid onset with severe clinical manifestations. In this case, the patient's condition deteriorated rapidly, resulting from severe hypercortisolism. Resection of the tumor is the most effective treatment. Localization of ectopic ACTH-secreting tumors is very challenging. Multimodality imaging including CT, MRI, octreotide scan, and positron emission tomography plays a crucial role in identifying the tumors. However, each imaging modality has limitations.

Female urinary retention from a huge periurethral mass caused by immunoglobulin G4-related disease (IgG4-RD).

Immunoglobulin G4-related disease is a systemic disease, recognized as extensive T-lymphocyte and IgG4-positive plasma cells. It can present as inflammatory pseudotumor in various organs. A female 75 years old, diagnosed IgG4-related autoimmune pancreatitis, presented with urinary retention. Pelvic examination showed well-defined, soft tissue mass, bulging from anterior vaginal wall. MRI pelvis demonstrated a huge periurethral mass, size 6.2 × 4.4 × 4.2 cm, encasing the urethra, extending from bladder neck to distal urethra, and mimicking the prostate gland. Tissue biopsy showed compatible with IgG4-related disease. Immunosuppresive drugs were given for few months and the patient could void normally.

Diagnosis of Xp11.2 Translocation Renal Cell Carcinomas in the Thai Patients.

BACKGROUND: Xp11.2 translocation renal cell carcinomas (TRCCs) are rare tumors recently accepted as a separated tumor type in 2004 WHO classification. To diagnose these tumors, histological recognition and confirmation of translocation are necessary. While the incidence of overall renal cell carcinomas (RCCs) is increased after the age of 40, Xp11.2 TRCCs are predominantly reported in young patients. The incidence of these tumors in Thailand has not been evaluated. OBJECTIVE: To identify the frequency of Xp11.2 TRCCs, clinical presentation and follow-up information in 40 year-old or younger patients by using TFE3 immunostaining to confirm the translocation. MATERIAL AND METHOD: All cases of 0- to 40-years-old patients diagnosed as RCCs from nephrectomy specimens between 2001 and 2011 at Siriraj Hospital were reviewed by one pathology resident and two pathologists. Immunohistochemical staining for TFE3 was performed on cases morphologically suspected for TRCC or showing unusual histology. RESULTS: Four cases consistent with Xp11.2 TRCC were identified by TFE3 immunostaining from all 31 cases (12.9%). Three cases were females and one was male. Two cases were at stage 4 and passed away several months after the operation. The other two patients were at stage 2. One patient is alive without recurrence for at least 36 months after surgery alone. The other died from underlying SLE. CONCLUSION: TFE3 immunostaining is a useful andpractical toolfor screening and diagnosis of Xp11.2 TRCCs, but staining results can be difficult to interpret. Thus, genetic analysis is still necessary especially when immunostaining shows problematic result. Fresh tumor tissue sampling in all young patients is recommended in case of further genetic studies needed.

Primary intrarenal/perirenal neuroblastoma mimicking Wilms' tumor at presentation in a 5-year-old girl: a case report from Siriraj hospital.

Primary intrarenal/perirenal neuroblastoma (NB) is NB that primarily arises in intrarenal and/or perirenal regions. Regarding its location, this tumor can mimic Wilms' tumor a more common pediatric renal tumor at presentation. Owing to diference in clinical management andprognosis, it is crucial to distinguish primary intrarenal/perirenal NB from Wilms' tumor at the time of diagnosis. Recognition of its characteristic features, which are distinctive from its adrenal counterpart, is helpful to guide to the correct diagnosis and proper treatment. However,; due to its rarity with less than 100 cases described in English literatures, the characteristics of primary intrarenal/perirenal NB have not been widely studied The authors, therefore, report this case of primary intrarenal/perirenal NB, which occurred in right kidney of a 5-year-old Thai girl in order to illustrate the characteristic features of this tumor To the authors'knowledge, this case is the first case ofprimary intrarenal/perirenal NB that has been reported in Thailand

Metaplastic carcinoma of the breast with transformation from adenosquamous carcinoma to osteosarcomatoid and spindle cell morphology.

Metaplastic carcinoma of the breast refers to a heterogenous group of mammary carcinomas that contain a mixture of various cell types, including squamous cells, spindle cells and/or a mesenchymal component, such as bone or cartilage. To the best of our knowledge, the clinical course of a tumour that has undergone a transformation from one type of metaplastic carcinoma to another subtype has not previously been reported. The present study reports the five-year clinical and pathological course of a metaplastic breast carcinoma in a 55-year-old female, who was diagnosed with a sclerosing fibroadenomatous nodule with osseous metaplasia and focal atypia. A recurrent tumour was documented four years later, showing a predominant component of osteosarcoma with adenosquamous carcinoma. Upon pathological review of the initial mass, the diagnosis was changed to low-grade adenosquamous carcinoma. The patient was treated with breast conserving therapy. However, one year later, a recurrent metaplastic carcinoma with spindle cell morphology was documented and surgically removed by mastectomy. Subsequently, pulmonary invasion of the chest wall occurred and the patient eventually succumbed due to the invasive nature of the disease.

Plasma cell neoplasms presenting with masses: a study on morphology, expression of CD56 and cyclin D1, and presence of Epstein-Barr virus in 39 Thai patients in SiriraJ Hospital.

BACKGROUND: Plasma cell neoplasms (PCNs) presenting with masses are not common. Variable morphology, expression of CD56 and cyclin D1, and Epstein-Barr virus (EBV)-encoded small RNA (EBER) status have been described with a promising diagnostic role. There is no data of these findings in Thai patients. OBJECTIVE: To study morphology, CD56 and cyclin D1 expression and EBER status in PCNs presenting with masses. MATERIAL AND METHOD: Thirty-nine mass-forming PCNs with available materials between 2006 and 2010 were identified from Siriraj Hospital pathology database. H&E slides were reviewed for morphologic grade according to Bartl grading system. Immunohistochemistryfor CD56 and cyclin D1 and EBER in situ hybridization were analyzed on tissue microarray sections of the included cases. RESULTS: Of 39 cases, it comprised 31 (79.5%) plasma cell myelomas (PCMs), five (12.8%) osseous plasmacytomas (OPs), and three (7.7%) extramedullary plasmacytomas (EMPs). Intermediate-grade morphology was common to all types of PCNs. CD56 and cyclin D1 positivity were more often in PCMs comparing with OPs and EMPs; however differences in expression of these markers among different types of PCNs were insignificant (p > 0.05). An EBER-positive EMP was identified. CONCLUSION: The majority of mass-forming plasma cell tumors in the studied population are PCM-related. Intermediate-grade morphology is common in all types of PCNs. A value of CD56 and cyclin D1 immunostains in discrimination between types of PCNs cannot be confirmed in the current study. Identification of the EBER-positive EMP suggests that EBV association in plasma cell tumor can be encountered in Thais.

Ewing's sarcoma and primitive neuroectodermal tumour (ES/PNET) presenting as a breast mass.

Ewing's sarcoma/primitive neuroectodermal tumour (ES/PNET) is a rare tumour usually detected in young individuals and uncommonly found within the breast tissue. In this case report, we examined a 46-year-old patient, who developed a lump on her breast and was later diagnosed with ES/PNET. Clinical presentation, age at development and radiological findings were of interest and were discussed. Diagnosis of the tumour was confirmed using various immunohistochemical studies and the presence of a translocation, t(11;22). A literature review of this rare condition was also included.

Villous adenoma of the urinary bladder: a case report.

Villous adenomas of the urinary tract are rare, in contrast to urothelial neoplasms. Most reports were scattered individual cases. Only two case series of this entity have been published. The histopathology is identical to that of the much more common villous adenoma of the gastrointestinal tract. The authors reported a case of urinary bladder villous adenoma in a 41-year-old Thai patient who complained of hematuria for one day without any other symptom. Cystoscopic examination revealed a papillary growth at the bladder neck associated with marked degree of bullous edema and bilateral mild hydroureters. The clinical diagnosis was urothelial carcinoma. Transurethral resection was performed Histologic examination revealed typical features of villous adenoma. The tumor showed identical immunohistochemical profile to colonic villous adenoma. The patient has been well for more than a year after tumor removal.