Rare Metastasis Research Articles

Rare metastasis to the iris from renal cell carcinoma responds to an anti-angiogenic therapy – a case report

A 73-year-old Afro-Caribbean man with pulmonary metastatic renal cell carcinoma presented to the ophthalmological department for decreased visual acuity, blurry vision and photophobia. Initial ocular examination revealed a 5 mm mass located to the iris. Cerebral magnetic resonance imaging (MRI) revealed a contrast enhancing lesion in the cerebellum measuring 5 mm, without surrounding edema. The iris mass was excised during cataract surgery. Histological examination of the mass revealed a clear cell proliferation and immunohistochemical analyses revealed a typical phenotype of clear cell renal cell carcinoma with expression of vimentin, CD10 and p504s. The final diagnosis was a metastatic clear cell renal cell carcinoma. A systemic treatment with sunitinib, a tyrosine kinase inhibitor of vascular endothelial growth factor receptor (VEGF) receptor pathway, was introduced with a good safety profile and six months follow up revealed no ophthalmic recurrence and stabilization of the pulmonary and cerebellum metastasis.

Imaging appearance of a singular metastatic adenoid cystic carcinoma of the right kidney: A case report and literature review.

Renal metastasis of a submandibular gland adenoid cystic carcinoma is clinically rare when it presents with an atypical imaging appearance of singular renal metastases. Whole-body positron emission tomography (PET)/computed tomography (CT) can determine whether the singular renal mass is benign or malignant and identify metastases in other parts of the body, particularly in uncommon sites. In the present case, the patient developed a rare partial metastasis to the right kidney three years after undergoing a surgery for submandibular gland adenoid cystic carcinoma. Based on the present case, whole-body PET/CT examination could provide an important basis for making treatment plans for singular renal metastases.

A Rare Case of Fibrolamellar Hepatocellular Carcinoma with Unusual Presentation in a Young Indian Female- a case report

Fibrolamellar carcinoma (FLC) is a rare subtype of Hepatocellular carcinoma (HCC) comprising Approx 1% of HCC. This variant of HCC commonly metastasizes to regional lymph nodes (celiac, gastric, para aortic). But metastasis to cervical lymph nodes is very rare. It is also very rare in Asian population. We are reporting a case of a rare cervical lymph node metastasis from FLC in an Indian female. Patient was a 20 yrs female presented with a cervical lymph node enlargement. USG and CT revealed lesion in liver and massive lymphadenopathy involving regional and para aortic group of lymph nodes. Diagnosis was made on histopathological examination of cervical lymph node biopsy.

Evaluation of Rare Choroid Plexus Metastasis From Papillary Thyroid Carcinoma With Multimodality Imaging

Papillary thyroid carcinoma (PTC) is the most common malignancy of thyroid gland. Though it metastasizes primarily through lymphatics, hematogenous spread is not infrequent. We report the case of a 62-year-old male patient with intraventricular choroid plexus metastasis from PTC, incidentally detected on post-high-dose radioiodine therapy whole-body I scan, which is an extremely rare presentation. Only 3 cases of choroid plexus metastasis from thyroid carcinoma have been reported. Further multimodality radiological investigations confirmed diagnosis and helped in assessing treatment response. The patient received gamma-knife stereotactic radiosurgery, and follow-up radiological imaging suggested improvement of intracranial metastasis.

Fine-needle aspiration of metastatic renal cell carcinoma to a male breast: A rare initial presentation.

Fine-needle aspiration of metastatic renal cell carcinoma to a male breast: A rare initial presentation.

Solitary Metastasis to the Facial/Vestibulocochlear Nerve Complex Case Report and Review of the Literature

Background and Importance: Distant metastasis of mucinous adenocarcinoma from the gastrointestinal tract, ovaries, pancreas, lungs, breast or urogenital system is a well described entity. Mucinous adenocarcinomas from different primary sites are histologically identical with gland cells producing a copious amount of mucin. This report describes a very rare solitary metastasis of a mucinous adenocarcinoma of unknown origin to the facial/ vestibulocochlear nerve complex in the cerebellopontine angle. Clinical Presentation: A 71-year-old woman presented with several month history of progressive neurologic decline and a negative extensive workup performed elsewhere. She presented to our institution with complete left facial weakness, left-sided deafness, gait unsteadiness, headache and anorexia. A repeat MRI scan of the head revealed a cystic, enhancing abnormality involving the left cerebellopontine angle and internal auditory canal. A left retrosigmoid craniotomy was performed and the lesion was completely resected. The final pathology was a mucinous adenocarcinoma of indeterminate origin. Postoperatively, the patient continued with her preoperative deficits and subsequently died of her systemic disease six weeks after discharge. Conclusion: The facial/vestibulocochlear nerve complex is an unusual location for metastatic disease in the central nervous system. Clinicians should consider metastatic tumor as the possible etiology of an unusual appearing mass in this location causing profound neurologic deficits. The prognosis following metastatic mucinous adenocarcinoma to the cranial nerves in the cerebellopontine angle may be poo

リンパ節転移を有していた潰瘍性変化のない径１cm未分化型粘膜内早期胃癌の一例

リンパ節転移を有していた潰瘍性変化のない径１cm未分化型粘膜内早期胃癌の一例

Chemotherapy Improved Prognosis of Mesenchymal Chondrosarcoma with Rare Metastasis to the Pancreas

Extraskeletal mesenchymal chondrosarcoma is rare and metastasis to the pancreas is extremely rare, with only four cases reported in the literature. The therapeutic effectiveness of chemotherapy remains uncertain. We report a 39-year-old man with extraskeletal mesenchymal chondrosarcoma of the buttock, who had metastases to the pancreas, bones, and lung. He underwent distal pancreatectomy, resection of the buttock tumor, and chemotherapy. He had a good response to chemotherapy and survived for about 3 years after surgery.

Solid Pseudopapillary Neoplasm of the Pancreas: A Case Report with Review of the Diagnostic Dilemmas and Tumor Behavior

Solid pseudopapillary neoplasm of the pancreas is a rare tumor of the pancreas often detected initially on imaging. Of uncertain histogenesis, it has a low-grade malignant potential with excellent post-surgical curative rates and rare metastasis. Despite advances in imaging, pseudocysts and other cystic neoplasms feature in the differential diagnosis. Pathological and/or cytological evaluation remains the gold standard in reaching a definitive diagnosis. On morphology alone, other primary pancreatic tumors and metastatic tumors pose a diagnostic challenge. Recent advances in immunohistochemical characterization have made the histopathologic diagnosis more specific and, in turn, shed light on the likely histogenesis of this rare tumor. We report a case of solid pseudopapillary neoplasm of the pancreas that was suspected on radiology and diagnosed intraoperatively on imprint cytology guiding definitive surgery. The diagnostic dilemmas are reviewed.

Abstract A18: Defining ovarian mucinous tumors: Cancer genes and heterogeneity

Abstract Background: Mucinous ovarian carcinomas (MC) and mucinous borderline ovarian tumours (MBOT) are associated with ERBB2 amplification and KRAS activating mutations. These events occur in a near-mutually exclusive pattern, and KRAS mutations are more prevalent in MBOTs than MC's whereas ERBB2 amplification is more frequently seen in MCs. Frequencies of mutations in other oncogenes and tumour suppressor genes in MC are not well established though TP53, BRAF, NRAS, and CDKN2A mutations have all been reported. As these carcinomas are commonly chemo-resistant a definitive molecular categorization of this subtype is needed as treatment options are explored. Methods: We undertook review of pathology reports and after exclusion of potential gastric, appendiceal or pancreatic involvement over 100 mucinous ovarian tumours were identified. HPV testing was undertaken to exclude rare metastasis from endocervical primary site. All specimens were assayed for p53 expression via TMA and subject to sequencing of common cancer gene hotspots using Ion-Torrent or Illumina MiSeq. Previously derived data on ERBB2 status was combined in our analysis and, where available, samples showing heterogeneity of ERBB2 amplification and any other Ras-pathway activating mutation were microdissected with components evaluated independently for concurrent hotspot mutations. Results: All samples were consistent with mucinous tumours of ovarian origin and none were HPV positive. We detected mutations in KRAS, BRAF, CDKN2A, TP53, PTEN, PIK3CA as well as presumed somatic/detrimental, variants in APC that have not previously been reported in mucinous tumours. Despite some samples having enriched tumour content, lower than expected allelic frequencies of KRAS activating mutations suggested intra-tumoural heterogeneity. This was consistent with results observed previously with rare ERBB2 amplification coinciding KRAS mutations. Conclusions: The prevalence of Ras-pathway mutations, especially amongst borderline lesions, suggests these mutations are critical for tumour onset. However varying allelic frequencies of KRAS mutations suggest progression to carcinoma is strongly influenced by other molecular features. Citation Format: Michael S. Anglesio, Robertson Mackenzie, Stefan Kommoss, Boris J. Winterhoff, Benjamin Kipp, Jaoquin Garcia, Jesse S. Voss, Kevin Halling, Sarah Kerr, Janine Senz, Winnie Yang, Magnus von Knebel Doeberitz, Elena-Sophie Prigge, Miriam Reuschenbach, Anna V. Tinker, Blake Gilks, Jamie N. Bakkum-Gamez, David G. Huntsman, Jessica N. McAlpine. Defining ovarian mucinous tumors: Cancer genes and heterogeneity. [abstract]. In: Proceedings of the AACR Special Conference on Advances in Ovarian Cancer Research: From Concept to Clinic; Sep 18-21, 2013; Miami, FL. Philadelphia (PA): AACR; Clin Cancer Res 2013;19(19 Suppl):Abstract nr A18.

A large thigh mass: a blood clot or a rare skeletal muscle metastasis from renal cell carcinoma

BackgroundRenal cell carcinoma (RCC) is a tumor known for its unusual presentations and high rate of metastasis. Metastasis to lung, liver, bone and brain are common, but to skeletal muscle(SM) is very rare. Because only 11% of the RCC metastases to SM present after 10 years of initial presentation, there is no general consensus for its annual surveillance.MethodsWe report a case of a 58 year old male with a history of RCC, initially diagnosed 11 years ago, who presented with a large SM mass. A large mass measuring more than 25 cm was located in left posterior thigh and was present for more than a year. It initially was diagnosed as a large blood clot and was treated with warfarin for more than 6 months. Clinical work up including FDG-PET/CT and MRI raised the possibility of a tumor, but a negative biopsy made the diagnosis uncertain. Because of high suspicion for a tumor, patient underwent a complete resection of the mass.ResultsThe resected mass measuring 28 × 18 × 7 cm was detailed as the largest skeletal muscle metastasis from RCC ever reported.ConclusionThis case emphasizes the importance of maintaining a high suspicion for metastasis even in less common metastatic sites mainly in patients with a history of RCC. It also highlights the importance of annual surveillance for metastasis in patients with RCC even after 10 years of initial presentation using FDG-PET/CT.

Detection of a metastatic lesion and tiny yolk sac tumors in two teenage patients by FDG-PET: report of two cases

We herein report the efficacy of FDG-PET for detecting yolk sac tumors in two teenage patients. One patient had a rare bone metastasis and the other had tiny recurrent lesions at the mediastinum. Both lesions were difficult to detect by conventional diagnostic modalities. In contrast, FDG-PET was very effective for detecting these lesions. Furthermore, the SUVmax of the lesion reflected the tumor activity, which was also suggested by the fluctuating values of serum alpha-fetoprotein (AFP), an established marker of yolk sac tumors. FDG-PET may be a useful procedure to detect tiny and metastatic, pediatric yolk sac tumors.

Polymorphous low-grade adenocarcinoma: A 17 patient case series

Polymorphous low-grade adenocarcinoma (PLGA) is a rare malignancy most commonly seen in the minor salivary glands. First described in 1983, this entity has been recognized to have an indolent course with rare metastases or deaths. We describe our experience with 17 patients treated at our institution for PLGA from 1984 to 2012. All tumors were located in the oral cavity or soft palate. All patients were treated surgically, with the exception of one patient who declined therapy. No deaths or metastases have been identified in subsequent follow-up. Three patients in this series had undergone prior surgery up to 20 years previously and were treated for recurrences at our institution; no other recurrences have been noted. In summary, PLGA is best treated with wide excision to negative margins with excellent prognosis, but long-term follow-up is recommended given the propensity for late recurrences.

A rare intramedullary spinal cord metastasis from uterine leiomyosarcoma

Leiomyosarcoma is a rare smooth-muscle-derived malignancy with a significant malignant potential. Systemic metastases are a common late complication of leiomyosarcoma typically to lungs, liver, brain and bones. We report a 44-year-old woman with a prior history of uterine leiomyosarcoma who presented to us with a cervicothoracic intramedullary lesion and recent onset of neurological deficits. She underwent surgery with histological confirmation of a diagnosis of metastatic leiomyosarcoma, which was followed by adjuvant radiation and chemotherapy. To our knowledge there is no prior report of intramedullary spinal cord metastases (ISCM) from a leiomyosarcoma in the English literature. We report the present patient in view of the rarity of ISCM and its clinical significance. Even though ISCM are unusual, they should be suspected in any patient with primary malignancy irrespective of the histology. The overall prognosis remains grim irrespective of the treatment modality chosen and recognition of the same is important in preoperative counseling and overall treatment approach.

Adenoid Cystic Carcinoma: Clinical and Molecular Features

The clinical features and common molecular alterations of adenoid cystic carcinoma (ACC) are reviewed in this paper. ACC is an uncommon neoplasm that most frequently arises in salivary glands and related tissue in the head and neck region. ACC has distinct histologic features, with cribriform and tubular growth patterns of basaloid cells displaying a predominantly myoepithelial cellular phenotype. This neoplasm also has uncommon clinical features of rare regional lymph node metastasis and a prolonged but relentlessly progressive clinical course. Clinical outcome in ACC is correlated to histologic grade, which is correlated to the degree of aneuploidy and genetic alterations present in the tumor genomes. Recent studies have identified that the majority of ACC contain alterations of the MYB gene, usually resulting in a fusion gene product with the NFIB gene by a t(6;9) translocation event. The molecular consequences of this alteration are incompletely understood, as are secondary molecular alterations that contribute to the neoplastic phenotype of ACC.

Skull destruction from intracranial metastasis arising from pulmonary squamous cell carcinoma: a case report

IntroductionSquamous cell carcinoma of the lung represents 30% of all non-small cell lung carcinomas. It arises from dysplasia of squamous epithelium of the bronchi and is strongly associated with cigarette smoking. Squamous cell carcinoma of the lung is known to produce metastases in the brain parenchyma.Case presentationWe present the case of an 80-year-old indigenous Australian man with an unusual presentation of metastatic carcinoma of the lung. The case demonstrated a squamous cell carcinoma of the lung with an intracranial metastatic lesion destroying the parietal bone and extending into the extracranial soft tissue. A visible deformity as a result of the metastasis was evident on physical examination and computed tomography demonstrated extensive bone destruction.ConclusionThe authors were unable to find a case of this occurring from a squamous cell carcinoma of the lung anywhere in the world literature. The case report demonstrates an unusual disease presentation with a rare intracranial metastasis invading through the skull.

Small-cell lung carcinoma metastasis to the iris – case presentation

IntroductionMetastatic tumors are the most common intraocular malignancies in adults. Anterior segment metastases account for about 7.2–14.1% of all intraocular metastatic tumors with those to the iris representing 3.6–7.8% of the cases. Breast and lung are the most frequent primary sites of metastasizing cancer. The aim of this study is to present the case of a 43-year-old patient with a rare small-cell lung carcinoma metastasis to the iris.Case reportA patient with small-cell lung carcinoma and metastases in the brain who had been treated with chemo- and radiotherapy attended an outpatient clinic because of redness of her left eye. Based on the ophthalmological examination, a diagnosis of numerous metastatic tumors to the iris was made and the patient was referred for re-chemotherapy. Complete regression of the iris lesions was observed after 5 months but unfortunately two months later the patient died, due to progression of her systemic disease.DiscussionAmong lung cancers, adenocarcinomas are much more likely to produce distant metastases to the iris than small-cell carcinomas [4]. More than 50% of patients with small-cell lung carcinoma have metastases in the brain. The survival rate in cases of lung cancer with eye involvement is poor and approximates to 7 months. However, since there is a strong probability of angle involvement and subsequent secondary glaucoma, the early onset of treatment can improve the patient's quality of life during the terminal phase of the disease.

Obstructive jaundice due to a rare periampullary tumor

Gangliocytic paraganglioma is a rare neuroendocrine tumor predominantly arising in the second part of the duodenum with rare local recurrence or metastasis to regional lymph nodes. A 92-year-old female presented with obstructive jaundice. On exam she had pale conjunctiva and icteric sclera. Abdominal examination revealed tenderness in the upper abdomen. Laboratory data was consistent with obstructive jaundice. Computed tomography of the abdomen revealed a dilated gall bladder and a common bile duct (CBD) with no evidence of liver lesions or pancreatic head mass. Endoscopic ultrasonography revealed a 1 cm isoechoic submucosal nodule at the periampullary area, dilated CBD (9 mm), a prominent pancreatic duct (4.1 mm) and a hydropic gall bladder with no stones. Endoscopic retrograde cholangiopancreaticography was performed to relieve obstruction and showed a 1 cm periampullary mass which underwent an en-bloc snare resection. Histopathology analyses with immunohistochemical stains were positive for cytokeratin, synaptophysin, S-100 protein, neuron specific enolase and negative for actin and desmin consistent with periampullary gangliocytic paraganglioma. Periampullary gangliocytic paraganglioma is a rare benign tumor of the small bowel. Common presentation includes abdominal pain and obstructive jaundice which should be included in differential diagnosis of obstructive jaundice. Endoscopic resection is a curative therapy in the absence of local invasion or distant metastasis.

Mitotically Active Plexiform Fibrohistiocytic Tumor

Plexiform fibrohistiocytic tumor is an intermediate malignant tumor situated in superficial soft tissues. It affects children and young adults. The tumor is most commonly located on upper extremities, whereas involvement of back region is rare. Mitotic activity is generally low (~3/10 HPF). It is rare, but it can exhibit aggressive behavior, so total excision with clear surgical margins and long-term followup is necessary to detect local recurrence and metastases. We report a child with a solid mass on back region which was found to be a mitotically active plexiform fibrohistiocytic tumor (6/10 HPF) after excision. Plexiform fibrohistiocytic tumor (PFT) is a mesenchymal neoplasm of children, adolescents, and young adults. It is characterized by fibrohistiocytic cytomorphology and multinodular growth pattern. Clinically it is usually a slow-growing mass of upper extremities with frequent local recurrence and rare regional lymphatic and systemic metastasis (Fletcher et al. (2002), Enzinger and Zhang (1988), Remstein et al. (1999)).

A rare intramedullary spinal cord metastasis from prostate carcinoma

A rare intramedullary spinal cord metastasis from prostate carcinoma