Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect

The concept of Xp11.2 renal cell carcinoma (RCC) was recently established as a tumor affecting 15% of RCC patients <45 years. Many patients present with advanced stage with frequent lymph node metastases. Histologically, Xp11.2 RCC is characterized by mixed papillary nested/alveolar growth pattern and tumor cells with clear and/or eosinophilic, voluminous cytoplasm. Neoplastic cells show intense nuclear immunoreactivity to TFE3, while focal immunostaining for melanocytic markers, including melanosome-associated antigen or Melan A in some cases, are also noted. Alpha smooth muscle actin and TFEB are consistently negative. Ultrastructurally, the ASPL-TFE3 RCC variant contains rhomboid crystals in the cytoplasm, similar to that observed in alveolar soft part sarcoma. The fusion of the TFE3 gene with several different genes, including ASPL(17q25), PRCC(1q21), PSF(1q34), NonO (Xq12) and CLTC (17q23) have been identified to date. The behavior of Xp11.2 RCC in children and young adults is considered as indolent even when diagnosed at advanced stage, including lymph node metastasis. However, Xp11.2 RCC in older patients behaves in a more aggressive fashion. Therapy includes nephrectomy with extended lymphadenectomy. There may be a role for new protease inhibitors in advanced inoperable disease. Further research is required to correlate clinical behavior with the expanding genetic spectrum of this tumor, and to establish standard therapy protocols for primary and metastatic lesions.     

Occult renal cell carcinoma manifesting with epistaxis in a woman: a case report

Introduction

Metastatic disease in the sinonasal region occurs rarely and the primary site may be elusive. This case highlights the possibility of an occult renal tumor manifesting with nasal symptoms and the risk of severe bleeding following nasal biopsy.

Case presentation

We report the case of a 79-year-old Caucasian woman who presented with a six-week history of intermittent left-sided nosebleeds. She was fit, without previous surgery or anticoagulation. Nasal endoscopy and computed tomography showed a hemorrhagic mass occupying her left ethmoid cells and middle meatus. After a highly hemorrhagic biopsy, the lesion was histologically confirmed as clear cell carcinoma. Screening revealed a right kidney mass with widespread metastases. Palliative radiotherapy to the sinonasal metastasis and systemic treatment rendered her free of symptoms nine months after initial presentation.

Conclusions

General practitioners and ear, nose and throat (ENT) doctors are very often confronted with epistaxis. A small minority of patients with epistaxis show a primary or metastatic nasal mass. Detection of the origin of secondary sinonasal masses requires a high index of suspicion and examination of infraclavicular sites by a multidisciplinary team. Renal cell carcinoma metastases are prone to severe bleeding during any surgical intervention, therefore, preoperative embolization is recommended. Resection or radiotherapy to the sinonasal metastasis of renal origin is justified in order to prevent recurrent nosebleeds.

     

Neuroendocrine small cell carcinoma of the cervix associated with endocervical adenocarcinoma: a case report

BACKGROUND: Small-cell carcinoma (SCC) of the cervix is an uncommon member of the neuroendocrine group of cervical carcinomas that is frequently intermixed with a non-SCC component in the form of an adenocarcinoma (ADC) or squamous carcinoma. CASE: Colposcopy revealed a cervical mass in a 41-year-old woman and a Pap smear the presence of some tumor cells from SCC, which was confirmed by subsequent biopsy. The patient received 3 cycles of chemotherapy and then underwent major surgery. The cervical samples showed areas of endocervical ADC adjacent to and intermixed with the SCC. Reviewing the Pap smear, a previously missed malignancy was recognized. On subsequent molecular investigation to assess clonality by microsatellite analysis, the presence of HR-HPV DNA18 on real-time polymerase chain reaction, p16(INK4a) fluorescence in situ hybridization status and the corresponding immunohistochemical expression supported the hypothesis that the two components of the tumor shared the same cell origin. CONCLUSION: SCC of the cervix is a rare but distinct HR-HPV-18-related cervical carcinoma often intermixed with a clonally related non-small cell component consisting of an ADC or squamous carcinoma. The presence of SCC tumor cells in a cervical smear should prompt a search for malignant glandular or squamous tumor cells.     

Autophagy in Xp11 translocation renal cell carcinoma: from bench to bedside

Molecular and Cellular Biochemistry - Xp11 translocation renal cell carcinoma (tRCC) characterized by the rearrangement of the TFE3 is recently identified as a unique subtype of RCC that urgently...     

Merkel cell carcinoma: case report

Merkel cell carcinoma (MCC) is a rare, aggressive neuroendocrine carcinoma of the skin. Although it is 40 times less common than malignant melanoma, its mortality is much higher compared to melanoma. From 1986 to 2001 there was rapidly increasing incidence in reported cases of MCC, with a tripling in the rate over this 15-year period. The vast majority of MCC presents on sun-exposed skin. The head and neck area is the most common site of tumor occurrence. We present 70-year old female patient with painless red-colored nodule, size 2 x 2 x 2 cm on the dorsal side of mid left forearm. The surgical excision with negative margins was performed, and pathohistological analysis confirmed Merkel cell carcinoma. Sentinel lymph node biopsy was negative. In conclusion, as MCC is a very aggressive rare skin carcinoma with lethal outcome, it should be mandatory to perform biopsies of any suspected skin lesion.     

Hepatocellular carcinoma and focal nodular hyperplasia associated with norethandrolone-therapy: a case report

A 33-year-old woman was treated for severe aplastic anemia with norethandrolone over a period of four years, with a cumulative dose of 25 g. In the fifth year of therapy two intrahepatic tumors were detected and were classified as hepatocellular carcinoma and as focal nodular hyperplasia, respectively.     

Radiation-induced glioma following CyberKnife(R) treatment of metastatic renal cell carcinoma: a case report

ABSTRACT: INTRODUCTION: Post-stereotactic radiation-induced neoplasms, although relatively rare, have raised the question of benefit regarding CyberKnife(R) treatments versus the risk of a secondary malignancy. The incidence of such neoplasms arising in the nervous system is thought to be low, given the paucity of case reports regarding such secondary lesions. CASE PRESENTATION: Here we describe a case of a 43-year-old Middle Eastern woman with primary clear cell renal cell carcinoma and a metastatic focus to the left brain parenchyma who presented with focal neurologic deficits. Following post-surgical stereotactic radiation in the region of the brain metastasis, the patient developed a secondary high-grade astrocytoma nearly 5 years after the initial treatment. CONCLUSION: Although the benefit of CyberKnife(R) radiotherapy treatments continues to outweigh the relatively low risk of a radiation-induced secondary malignancy, knowledge of such risks and a review of the literature are warranted.     

鹦鹉热衣原体感染致复视1例

鹦鹉热衣原体是一种胞内寄生的革兰阴性菌,可引发人畜共患病。鹦鹉热衣原体感染多表现为呼吸道症状,在中枢神经系统受累时通常表现为脑膜炎、颅神经麻痹、吉兰巴雷综合征以及癫痫。本文介绍了1例鹦鹉热衣原体致重症肺炎且合并颅神经损害的病例,经过多西环素抗感染治疗后肺部感染及颅神经病变好转。该病例报告不仅帮助临床医师进一步熟悉鹦鹉热衣原体感染累及中枢神经系统的临床表现,更有助于其了解鹦鹉热病原体目前的诊断手段。     

Sarcomatoid renal cell carcinoma metastatic to the breast: report of a case with diagnosis on fine needle aspiration cytology

BACKGROUND: Tumors metastatic to the breast are a rare occurrence. The correct identification is essential as there are divergent management implications. Fine needle aspiration cytology (FNAC) is an effective method of diagnosis when coupled with the judicious use of immunocytochemistry. CASE: A 50-year-old Indian woman presented with a palpable right breast lump that was clinically suspicious for malignancy. There were no contralateral breast masses or palpable axillary lymphadenopathy. There was a history of nephrectomy carried out several years earlier for renal cell carcinoma (RCC). FNAC of the right breast lump yielded malignant epithelioid and occasionally spindled cells within an inflamed background, while immunocytochemistry showed positive reactivity of tumor cellsfor CD10, with negative staining for CK7. The cytologic diagnosis favored a tumor of renal origin. The patient underwent wide central excision of the right breast lump, whereby the diagnosis of metastatic RCC with sarcomatoid features was confirmed. On follow-up, she developed metastases to multiple organ sites and died. CONCLUSION: A high index of suspicion is required in the diagnosis of disease metastatic to the breast. FNAC is a reliable diagnostic tool in the distinction of metastasis from primary malignancy of the breast.     

Merkel cell carcinoma in a malignant pleural effusion: case report

BACKGROUND: Merkel cell (neuroendocrine) carcinoma is a small round blue cell malignant neoplasm that primarily presents in the skin. The diagnosis of Merkel cell carcinoma in a pleural fluid is challenging because of the morphological similarity to many other malignant neoplasms. Immunohistochemical stains can be essential to establish the diagnosis of Merkel cell carcinoma. CASE PRESENTATION: A 77 year-old woman presented with a mass in her right buttock thought clinically to be a boil or sebaceous cyst. Upon histopathologic review including immunohistochemical analysis, a diagnosis of Merkel cell carcinoma was rendered. Wide-excision and sentinel lymph node biopsy revealed negative margins and no evidence of metastasis. Ten months later she complained of bone pain and a bone scan revealed multiple lesions. An abdominal CT scan revealed a T4 vertebral mass and local radiotherapy was administered. Two months later the patient presented with shortness of breath. A chest radiograph showed an effusion and thoracentesis was performed. The fluid was confirmed to contain metastatic Merkel cell carcinoma by cytology and immunohistochemical analysis. CONCLUSIONS: Merkel cell carcinoma is an aggressive neoplasm that can, despite careful surgical management, occasionally present as a malignant pleural effusion in a relatively short time period. Immunohistochemical analysis can aid in confirming this rare outcome.     

Giant basal cell carcinoma of the forehead: a case report

Giant basal cell carcinoma (GBCC) is defined as a tumor 5cm or greater in diameter. They present less than 1% of all basal cell carcinomas. We present a case of an 85-year-old male patient with a giant ulcerating tumor of the left forehead (measuring 7x6 cm). Under local anesthesia tumor was surgically excised. No involvement of the underlying periostal or bone structure was noted. Pathohystological exam revealed the giant basal cell carcinoma, with free surgical margins. Giant basal cell carcinomas are rare tumors and are usually result of a long duration and patient neglect. In comparison to the ordinary basal cell carcinoma these tumors have a higher metastatic potential. Surgical resection with negative surgical margin is the best possible treatment option.     

Primary paranasal sinus hyalinizing clear cell carcinoma: a case report

Background

Hyalinizing clear cell carcinoma (HCCC) is a rare low-grade tumour of salivary glands that was first described as a distinct entity in 1994 by Milchgrub et al. EWSR1-ATF1 fusion was found to be specific for this tumour. The majority of the reported cases of HCCC arise from minor salivary glands within the oral cavity. Primary HCCC of the paranasal sinus is extremely uncommon. To our knowledge, only three cases have been reported in the English literature. Herein, we present a case of HCCC of the posterior ethmoid/maxillary sinus.

Case presentation

A 63-year-old lady who presented with a long history of epistaxis. CT scan revealed a destructive mass in the left ethmoid/posterior maxillary sinus extending to the nasal cavity. Surgical excision was done and microscopic evaluation showed a tumour composed mainly of nests of clear epithelial cells separated by fibrocellular and hyalinized septa with extensive bone destruction. The tumour cells expressed CK5/6, EMA and p63 immunohistochemically but were negative for S100 protein, PAX-8, RCC and CK7. Sinonasal renal cell–like adenocarcinomas, myoepithelial carcinoma and metastatic renal cell carcinoma were excluded by radiological and immunohistochemical studies. Fluorescence in situ hybridization analysis revealed an EWSR1 gene rearrangement. Postoperative radiation was administrated and the patient did not show recurrence or distant metastasis 4 months after the surgery.

Conclusion

Head and neck region have many tumours that demonstrate clear cell changes on histology. Thus, the differential diagnosis for HCCC is wide. Awareness of this rare entity and the possibility of it is arising in unusual location is necessary. EWSR1-AFT1 fusion, a consistent finding in HCCC, can be used to confirm the diagnosis.

     

Fine needle aspiration cytology diagnosis of renal medullary carcinoma: a case report

BACKGROUND: Renal medullary carcinoma is a recently described, highly aggressive neoplasm that affects predominantly young African American males with a history of sickle cell trait. To the best of our knowledge, this is the first report of fine needle aspirate cytology (FNAC) findings of renal medullary carcinoma. CASE: A 14-year-old, African American male with a history of sickle cell trait presented with the sudden onset of third cranial nerve palsy. Radiographic examination demonstrated possible tumor masses in the brain, thorax and left kidney. Ultrasound-guided fine needle aspiration was performed on the left kidney, and a cytologic diagnosis of "suspect renal medullary carcinoma" was rendered. The cytologic diagnosis was confirmed by tissue examination. CONCLUSION: The cytologic features of renal medullary carcinoma include loosely cohesive clusters and single epithelioid cells with cytologic atypia, including high nuclear/cytoplasmic ratios, hyperchromasia, prominent nucleoli and cytoplasmic vacuolation. These cytologic findings, coupled with clinical findings (young black male with sickle cell trait), allow recognition of this rare renal neoplasm.     

Cytologic diagnosis of vaginal metastasis from renal cell carcinoma. A case report

BACKGROUND: Metastasis of renal cell carcinoma to the vagina is rare, although it may be the first evidence of the existence of the primary tumor. CASE: A metastatic deposit of renal cell carcinoma in the vagina was diagnosed by cytology as clear cell adenocarcinoma, which was confirmed by biopsy. Radiographic and ultrasound examinations confirmed the renal site of origin, which was corroborated by immunohistochemistry of the biopsy specimen. CONCLUSION: When a cytologic diagnosis of vaginal clear cell adenocarcinoma is made, metastasis of renal cell carcinoma should be considered in the differential diagnosis.     

VACTERL-H associated with central hypothyroidism: a case report

The VACTERL-H syndrome is a rare combination of vertebral anomalies, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus. This condition is recognized as a hereditary entity with poor prognosis. We present a newborn weighing 3400 g, born by cesarean section to a 27 years old mother who had had an irregular antenatal follow-up. The patient had severe hydrocephalus, proximal esophageal atresia and distal tracheoesophageal fistula, gastric outlet obstruction, imperforated anus and recto-urethral fistula, patent ductus arterious, a bifid scrotum, a vertebral defect, sacral dimple and central hypothyroidism. The patient had no limb defects. The association of central hypothyroidism and VACTERL-H has previously not been reported.     

Squamous cell carcinoma associated with amoebic cervicitis. Report of a case

A case of squamous cell carcinoma associated with amebiasis is presented. Protozoa identified as Entamoeba histolytica were found in a routine Papanicolaou smear and in the cervical biopsy of a young woman following the initial diagnosis of cervical cancer and the institution of a radiation therapy regimen. No amoebae were found in repeated stool specimens. The late detection and diagnosis of amebiasis precluded any possible changes in the management of the case. Initial follow-up for the carcinoma demonstrated that the patient was not responding well to therapy; her failure to return to the clinic precluded long-term follow-up and treatment for the amebiasis.