Dural-based Mass Research Articles

ETMR-12. INFANTILE CENTRAL NERVOUS SYSTEM JUVENILE XANTHOGRANULOMA WITH SOMATICCSF1R MUTATION - RESPONSIVE TO IMATINIB MONOTHERAPY

Abstract BACKGROUND Juvenile xanthogranuloma (JXG) of the central nervous system(CNS) is a rare non-Langerhans cell histiocytosis typically affecting children and young adults. CSF1R mutations have been reported for peripheral JXG but have not previously been reported in CNS JXG. Treatment of CNS JXG relies on maximal safe surgical resection followed by cytotoxic chemotherapy, radiotherapy and/or molecular targeted therapy involving MAPK signaling pathway. Imatinib has been effective in treating tenosynovial giant cell tumor with CSF1R mutations. METHODS Case Report RESULTS A 3 month old male presented with fever, lymphadenopathy, and macrocephaly (45.5cm, 99.97%) with bulging fontanelles. Head ultrasound revealed dilated ventricles and brain MRI demonstrated multiple dural-based masses, the largest measuring 6.6 x 5.3 x 5.7 cm was located along the right tentorium and caused obstructive hydrocephalus. Patient underwent right frontal endoscopic third ventriculostomy and choroid plexus cauterization to treat hydrocephalus and right parietal craniotomy to resect the superficial dural-based mass for tissue diagnosis. Pathology was most consistent with a JXG that harbored a somatic CSF1R (NM_001288705.3) mutation. DNA Methylation profiling was unmatched. PET scan was negative for non-CNS lesions. Due to the multiple masses on presentation, the surgical risks of resection of the largest lesion, as well as having a targetable mutation, we opted for medical therapy. As Pexidartinib, a selective CSF1R inhibitor, was not available for infants, patient was started on liquid imatinib 340 mg/m2/day monotherapy. Three months after initiation of imatinib, the smaller parietal lesions resolved and after six months, the largest mass continued to shrink (6.3 x 2.9 x 2.9 cm). Treatment has been well tolerated without adverse events or drug interruptions. CONCLUSION This is the first report of CNS JXG with a CSF1R mutation. Importantly, it demonstrates that imatinib is a potentially safe and effective form of monotherapy for this rare disease.

Diagnostic challenges of neurosarcoidosis in non-endemic areas.

Neurosarcoidosis (NS) is a challenging diagnosis, particularly when cases occur in low-prevalence, non-endemic geographic regions. In the United States, the highest incidence is in the Midwest and Northeast, compared to our Southwest location. While it is well known that NS may clinically and neuroradiographically mimic meningeal carcinomatosis, autoimmune or infectious pachymeningitis, neurosyphilis, or tuberculosis, diagnosis may be particularly challenging if systemic signs of sarcoidosis are lacking or unconfirmed or if dural-based masses are present. We reviewed our Colorado experience with NS cases, focusing our study on cases where NS represented the first histological confirmation of disease. A search of departmental databases was conducted with the search term "neurosarcoidosis" to identify cases 1-2008 to 12-2019, inclusive of the given case numbers. Patients were only included if their clinical and neuroimaging features were unusual and only when a biopsy of the central nervous system (CNS) represented the first confirmed diagnosis of sarcoidosis. A total of 17 cases were identified, of which the biopsy of the CNS was used for the initial confirmation of the disease in 9 of them. The most unusual findings were two patients with dural-based masses, one of which had pure NS as the cause of meningioma-like lesions and the second of which had coexistent meningioma and intimately admixed non-necrotizing granulomas of NS. NS with unusual features, especially in non-endemic areas, continues to yield diagnostic challenges for neurologists, neuroradiologists, and pathologists.

Primary central nervous system marginal zone lymphoma.

Marginal zone lymphoma (MZL) is the most common indolent lymphoma primarily arising in the central nervous system (CNS). To date, 207 cases of primary CNS MZL (PCNSMZL) were published, mostly as single case reports or small case series. It most commonly presents as extra-axial dural-based masses, more frequently in middle-aged women, displaying an insidious onset, with a long history of symptoms preceding the diagnosis. PCNSMZL can be radiographically mistaken for meningioma. PCNSMZL consists of CD20+ , CD3- small B lymphocytes with varying degrees of plasmacytic differentiation and low proliferation index. Trisomy 3, but not MALT1 or IgH translocation, is a common genetic abnormality. Other recurrent genetic abnormalities involve TNFAIP3 and NOTCH2. Ethiopathogenesis was poorly investigated. Due to its rarity, standard of care remains to be defined; it exhibits an excellent prognosis after varied treatments, such as surgery, radiotherapy, chemotherapy or their combinations. Nevertheless, each treatment should be considered after an accurate analysis of overtreatment risk. Short follow-up is a major limitation in reported PCNSMZL cases, which restrains our knowledge on long-term results and iatrogenic sequels. This review was focussed on presentation, differential diagnoses, pathological findings, treatment options and clinical outcomes of PCNSMZL; recommendations for best clinical practice are provided.

Imaging findings of head and neck and intracranial sinus histiocytosis with massive lymphadenopathy (Rosai–dorfman disease): A rare case report

This case report describes a multifocal involvement of Rosai–Dorfman disease (RDD), which is a benign lymphohistiocytosis, with emphasis on imaging findings in a 19 yrs old Ethiopian female patient who was sent to radiology department at Tikur Anbessa Specialized Hospital (TASH) for head and neck and brain imaging evaluations for an indication of bilateral painless neck swelling of 2 years duration. The head and neck computed tomography (CT) and brain magnetic resonance imaging (MRI) revealed numerous enlarged cervical lymph nodes and soft tissue infiltration of paranasal sinuses with associated lytic osseous changes as well as multiple intracranial extraaxial dural-based masses. Smears of fine needle aspiration biopsy from cervical lymph nodes confirmed the diagnosis of Rosai–Dorfman disease (RDD).

Unusual features of neurosarcoidosis: A 18-year retrospective

BackgroundNeurosarcoidosis (NS) is a challenging diagnosis for clinicians and pathologists. NS most often presents with leptomeningeal involvement where it mimics infectious or neoplastic meningitis, and in up to half of cases, systemic signs of sarcoidosis are lacking. Rare presentations include dural-based mass(es) (mimicking meningioma), hypothalamic/sellar-based lesions (mimicking pituitary adenoma), or as myelopathy (mimicking tumor or neurodegenerative condition). For pathologists, the morphological effects of prior therapy are not well documented. NS as an unsuspected cause of demise today is even less well known. MethodsSearch of departmental databases and personal files, 2004–2022, for NS cases, with focus on the subset with features of interest to pathologists. Results22 cases were identified (8 M: 14F, 13–66 years), in 11 of which the CNS specimen represented first diagnosis of sarcoidosis. 20 were surgical and 2 were autopsy cases. Focus of the study revolved around 2 surgical cases with NS granulomas intimately admixed with tumor (1 meningoma, 1 gonadotroph pituitary adenoma/pituitary neuroendocrine tumor (PitNET). One surgical and one autopsy case each had decrease in lymphocytes and well-formed granulomas, with increased fibrosis and hemosiderin in post-treatment tissues. We speculate, but cannot prove, that this may be due to prior steroid therapy. Both autopsy cases were women (38, 43-years), both with cauda equina syndrome/ progressive weakness as first presentation, and extensive spinal cord/nerve root sarcoidosis at demise. First diagnosis of NS/sarcoidosis was at autopsy in the 38-year-old. ConclusionsUnusual features for pathologists are that NS can co-exist within benign tumors, prior therapy alters histological features, and even in the modern era, may be first diagnosed at autopsy.

Pneumosinus dilatans associated with meningioma

A 54-year-old man presented to the emergency department after having fallen from height. The physical examination was unremarkable. The computed tomographic (CT) brain scan (A, B) showed no signs of trauma, instead, revealed a right frontal solid space-occupying lesion with cystic and calcified areas. Magnetic resonance imaging (MRI) was performed (C) and showed a voluminous dural-based mass, with well-defined borders and a strong and homogeneous contrast-enhancing on T1-WI. The calcified and cystic areas were osteosclerotic reactions and extensive hyperpneumatization of the adjacent ethmoid sinus. Meningioma with associated complex pneumosinus dilatans (PSD), with new sinus cell formation, was the suggested diagnosis. Although it is rare, PSD can occur associated to meningiomas and the theory behind it is obstruction of the sinus ostium causing expansion through a “ball-valve” effect. Effective treatment can avoid pneumocephalus formation. The patient underwent surgical resection, and the histologic and intraoperative observation confirmed the diagnosis.

De Novo Glioblastoma Masqueraded within a Hemispheric Dural Meningiomatosis: Rare Imaging Findings and Rationale for Two-Staged Resection

Introduction Collision tumors present as histologically different juxtaposed neoplasms within the same anatomical region, independent of the adjacent cell population. De novo intracranial collision tumors involving metachronous primary brain neoplasms alongside dural meningiomatosis are not well documented in the literature. Clinical Presentation We present staged surgical management of a 72-year-old female with known left hemispheric stable dural-based convexity mass lesions over 10 years and new-onset expressive aphasia and headaches. MRI had revealed left supratentorial dural-based enhanced masses consistent with en plaque meningiomatosis. Embolization angiography showed an unusual tumor blush from an aberrant branch of anterior cerebral artery suggesting a deeper focal intra-axial nature; a stage 1 craniotomy for dural-based tumor resection was completed with diagnosis of a meningioma (WHO grade 1). Intraoperatively, a distinct intra-axial deep discrete lesion was verified stereotactically, concordant with the location of tumor blush. The patient made a complete neurological recovery from a transient postoperative supplemental motor area syndrome in a week. Subsequent postoperative follow-up showed worsening of right hemiparesis and MRI showed an increase in residual lesion size and perilesional edema, which prompted a stage 2 radical resection of a glioblastoma, WHO grade 4. She improved neurologically after surgery with steroids and physical therapy. At 15 months following adjuvant therapy, she remains neurologically intact throughout the postoperative course, with no recurrent tumor on MRI. Conclusion A de novo glioblastoma presented as a masquerading lesion within hemispheric convexity meningiomatosis in an elderly patient with no prior radiation/phakomatosis, inciting a non-causal juxtapositional coexistence. The authors highlight rare pathognomonic angiographic findings and the rationale for two-staged resections of these collision lesions that led to excellent clinicoradiological outcome.

Primary Melanocytic Tumors of the Central Nervous System in Children: Imaging Features with Pathologic Correlation

Primary melanocytic tumors of the central nervous system are rare neoplasms arising from proliferation of multipotent melanin-containing neural crest cells found in the leptomeninges. This review describes the imaging appearance of the entire spectrum of primary melanocytic tumors of the brain and spine in the pediatric population, in correlation with histopathology, clinical features, and prognosis, using sample cases from our institution. These tumors are subclassified by the World Health Organization on the basis of disease distribution and pathologic aggressiveness into the following 4 subtypes: meningeal melanocytoma, meningeal melanoma, meningeal melanocytosis, and meningeal melanomatosis. They can occur in any age group, though the diffuse form of the disease is more prevalent in children and has an association with giant cutaneous melanocytic nevi. Imaging is characterized by hyperattenuation on CT and intrinsic T1 hyperintensity on MR imaging from the presence of melanin and/or hemorrhage. The focal forms usually manifest as dural-based hemorrhagic masses, and the diffuse forms demonstrate dural thickening and enhancement, with or without hydrocephalus. There is a predilection for the medial temporal lobes, posterior fossa, and upper cervical spine. The prognosis is often poor, with a high incidence of malignant transformation of benign disease.Learning Objective: To describe the imaging appearance of the spectrum of primary melanocytic tumors of the brain and spine in the pediatric population and to review the histopathology, clinical, and prognostic data available

Intracranial aspergillosis in immunocompetent adult patients without risk factors: a systematic review.

The clinical features and prognostic factors of intracranial aspergillosis in immunocompetent patients without risk factors are not well known. PubMed, Scopus, Google Scholar, and Web of Science were searched for all relevant case reports/series on adult patient (≥ 18years) with aspergillosis published from 1976 to 2018. One hundred eighty-two patients (median age, 40years; range, 18-83years; male:female, 115:67) were identified. Types of intracranial aspergillosis included intracranial mass from the skull base (54.9%), pure intraparenchymal disease (23.6%), meningoencephalitis (13.2%), and dural-based mass (8.2%). Vascular complications occurred in 44 patients (26.3%). Eighty-one patients (44.5%) had favourable final clinical outcomes without any deficits, whereas 58 (31.9%) died. Disease-related mortality improved significantly over time (43.1% [28/65] before 2000, 25.9% [30/116] after 2001; p = 0.021). Patients with meningoencephalitis demonstrated the highest mortality rate (79.2%, 19/24). Medical non-responders (patients whose disease course worsened after receiving the initial medication regimen) and vascular complications (the presentation of subarachnoid haemorrhage, intracerebral haemorrhage, or infarction related to the rupture or occlusion of intracranial vessels) were significantly associated with mortality (p < 0.001). Findings from the current review may help predict patient prognosis at the initial assessment and determine potential prognostic factors.

Rosai-Dorfman disease: a differential diagnosis to consider in dural-based masses.

Rosai-Dorfman disease: a differential diagnosis to consider in dural-based masses.

Primary Extra-axial Glioblastoma: Case Report and Literature Review

AbstractGlioblastoma multiforme (GBM) is the most frequent and most aggressive primary brain tumor in adults, mainly located in the cerebral hemispheres. In the literature, few cases of primary GBM have been reported to have radiographic and intraoperative features of extra-axial lesions, leading to a diagnostic dilemma. Despite the advances in imaging modalities, the diagnosis of GBM can be challenging, and it is mainly based on the histopathologic confirmation of the excised tumor. We describe the case of a 76-year-old previously healthy female patient who presented to our hospital due to speech disturbances and cognitive impairment. The diagnosis of the tumor type on magnetic resonance imaging (MRI) was difficult, as the findings were suggestive of a malignant meningioma due to the heterogeneous enhancement of a dural-based mass with a dural tail sign. Moreover, the intraoperative findings revealed an extra-axial mass attached to the dura. A histological examination confirmed the diagnosis of glioblastoma with arachnoid infiltration. The patient underwent adjuvant radiotherapy and concomitant temozolomide treatment, she had clinical improvement postoperatively, and was stable during the six months of follow-up. Glioblastoma should be considered in the differential diagnosis of primary extra-axial mass with atypical and malignant features, especially in elderly patients.

Anaplastic Lymphoma Kinase‐Positive Inflammatory Myofibroblastic Tumor Mimicking Meningioma: A Case Report

A 15-year-old girl presented with intermittent nausea and vomiting, headache, and vision changes. MR imaging of the brain revealed an avidly enhancing infratemporal dural-based mass arising from the tentorium, with hyperintensity on T2WI and transdural extension into the posterior cranial fossa. The well-encapsulated fibrous tumor was resected en bloc after cauterization of its rich tentorial arterial supply. Histologic examination demonstrated pleomorphic myofibroblastic cells admixed with an inflammatory infiltrate. Spindle cells showed strong, diffusely positive immunostaining for anaplastic lymphoma kinase, and genomic sequencing uncovered a tropomyosin 3 gene and anaplastic lymphoma kinase fusion and an activating mutation in the Kirsten rat sarcoma oncogene. A diagnosis of inflammatory myofibroblastic tumor was made. Primary intracranial involvement of inflammatory myofibroblastic tumor is exceptionally rare, and few cases that feature an anaplastic lymphoma kinase translocation have been described. Inflammatory myofibroblastic tumor‐CNS is an important differential diagnosis for dural-based lesions in children and young adults due to its propensity for recurrence and malignant degeneration.

Non-functional recurrent pituitary adenoma with intracranial metastasis–Pituitary carcinoma: A case report and review of the literature

IntroductionPituitary carcinomas are rare, with only a few case reports to date. We present a null cell type non-functioning pituitary carcinoma (NFPC) with intracranial metastases and a review of the literature. Case reportA 56-year-old male with a history of an aggressive pituitary adenoma was admitted. Initial MRI highlighted a large intracranial mass with leptomeningeal involvement, simulating meningioma. Based on his previous pathology report of the sellar mass, a diagnosis of null cell type non-functioning pituitary carcinoma has been made. ConclusionsAn aggressive recurrent pituitary tumor with suprasellar and/or cavernous sinus invasion is the main characteristics of the NFPC. Single or multiple enhancing dural-based mass(es) mimicking meningioma is the most common MRI finding. The proof of malignancy is the same histopathological features of the recurrent aggressive pituitary tumor in the metastases. The histology alone is not distinctive in terms of malignancy. Most patients require a combined surgery, radiotherapy and chemotherapy.

Differentiation of Typical and Atypical Meningiomas Using Magnetic Resonance Imaging

Background: Meningiomas are the most common intracranial neoplasms. They are usually homogeneously enhancing extraaxial masses. However, 10% of meningiomas are atypical with different imaging appearance. Distinguishing typical from atypical meningiomas on imaging is highly important in surgical and treatment planning. Materials and Methods: Our study was a retrospective one comprising twenty cases each of pathologically proven typical and atypical meningiomas excluding enplaque lesions. Magnetic resonance images were reviewed with each of the lesions showed as dural-based enhancing mass. Individual features analyzed were age, gender, maximum size, location, signal characteristics on T1, T2 weighted, susceptibility weighted imaging, diffusion-weighted, apparent diffusion coefficient, contrast-enhanced T1, interface with adjacent brain tissue, signal changes in adjacent brain tissue, and changes in overlying bone. Aim: The aim of the study is to retrospectively assess the magnetic resonance imaging (MRI) features of pathologically proven typical and atypical meningiomas. Results: Magnetic resonance features such as diffusion restriction, bony changes in form of destruction, indistinct interface with brain parenchyma, heterogeneous postcontrast enhancement, and edematous changes &gt;6 mm thick in adjacent brain parenchyma were in favor of atypical meningioma. Conclusion: MRI has the ability to differentiate typical and atypical meningiomas based on imaging appearance which is important in surgical and treatment planning.

Dural Tail Sign in Meningiomas

A 36-year-old woman with a history of migraine was referred to our clinic for evaluation of the hypothalamic-pituitary axis. She complained of dizziness and decreased visual acuity 4 months prior to the presentation. Brain magnetic resonance imaging (Fig.) showed an incidental dural-based enhancing mass (A) projecting dorsally from the right posterior aspect of the planum sphenoidale and impinging on the medial aspect of the right frontal lobe. The lesion extended into the right anterior/superior aspect of the sella turcica without directly impinging on the pituitary gland (B).

Gastrointestinal stromal tumor with intracranial metastasis: case presentation and systematic review of literature

BackgroundIntracranial metastasis of Gastrointestinal Stromal Tumors (GISTs) is rare but presents unique treatment challenges. We present a case of intracranial metastasis of GIST with a systematic review of the literature. A literature search using key terms “‘gastrointestinal stromal tumor’ AND brain AND metastasis”” was conducted through May 2019 via Embase and Pubmed according to PRISMA guidelines. Only cases describing intradural metastases rather than calvarial or intraorbital metastases were included.Case presentationA 57-year-old woman with history of GIST metastatic to the liver presented with a six-week history of left facial weakness, left hearing loss, and left facial numbness, and a one-week history of headaches, gait disturbance, and dizziness. MRI revealed a contrast-enhancing dural-based left middle cranial fossa mass measuring 2.9 cm × 3.1 cm × 3.4 cm with extension into the internal auditory canal and cerebral edema. A left temporal craniotomy was performed to excise the lesion, and the patient was discharged to a rehabilitation facility at her preoperative baseline. Intraoperative pathology revealed a spindle cell neoplasm, postoperative MRI demonstrated gross total resection of the lesion, and microscopic analysis demonstrated sheets of spindled tumor cells with short ovoid, irregular, hyperchromatic nuclei and scattered large atypical nuclei without extensive necrosis. Immunohistochemical staining was positive for KIT proto-oncogene (CD117, c-KIT), and the patient was put on imatinib (400 mg/day).ConclusionsOf the 18 cases analyzed and our present case, metastasis typically involved the cerebrum with only one in infratentorial elements. The tumors in seven of the cases involved the dura, and one case metastasized to the pituitary. Eight patients died following treatment. Surgery remains the mainstay of intracranial metastatic GIST, however there are many reports of good responses to radiation or chemotherapy alone. More investigation is required to determine the best treatment course for these patients.

Pachymeningeal en Plaque Tuberculoma in Children: A Case Report

Pachymeningeal en plaque tuberculoma is a rare manifestation of tuberculosis and has a poor prognosis if not diagnosed early and treated adequately. The aim of the present paper is to collect the reported clinical and radiological signs in the literature and compare it with a personal observation to evaluate the possibility of a presumptive diagnosis. A 4-year-old boy presented at the pediatric emergency department with 7 days history of severe headache, vomiting blurred vision and had one partial seizure. His neurologic examination was notable for decreased visual acuity with bilateral papilledema and intact extra-ocular muscles. His neck was rigid. Neuroimaging revealed a multifocal dural-based mass on the fronto-parietal convexity with dense heterogeneous contrast enhancement and hydrocephalus. He has undergone a Ventriculoperitoneal shunt and surgical excision of the mass the next day. Outcome was favorable with antituberculosis therapy and corticosteroids. The clinical presentation and outcome were similar to the reported cases in the literature.

A CARCINOMATOUS CALVARIAL COMPLAINT

SESSION TITLE: Wednesday Medical Student/Resident Case Report Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: 10/23/2019 09:45 AM - 10:45 AM INTRODUCTION: Scalp lesions have a wide spectrum of causes and in one study 7.8% were malignant, most commonly dermatologic neoplasms[1]. Of patients with any skull lesions who underwent surgery for diagnosis, cure, or palliation of symptoms, 13% of those masses were first presenting symptom of metastatic cancer[2]. We present a patient with a scalp lesion from a less recognized primary to reinforce that patients may not have presenting symptoms from their primarily affected organ. CASE PRESENTATION: 61 year old male who initially presented to his primary care physician with a scalp nodule that had been present for 7 months. He had initially attributed the lesion to a mild head trauma. Past medical history was significant for gastroesophageal reflux, coronary artery disease, ischemic cardiomyopathy, and tobacco use. The patient also complained of left elbow pain and fatigue. The initial work-up included a CT head, which demonstrated a 4.2cmx4cmx2.7cm dural-based mass eroding through the calvarium left of midline with dystrophic calcifications and associated edema and numerous dural and cerebral lesions consistent with metastatic cancer. X-ray of his left elbow showed a proximal ulnar osteolytic lesion. CT chest/abdomen/pelvis was significant for small hiatal hernia with diffuse thickening of the lower esophagus and prominent mediastinal and gastric lymph nodes. Neurosurgery performed a biopsy on the prominent brain mass, which showed metastatic poorly differentiated carcinoma with adenosquamous features of enteric origin. PET-CT showed likely origin of cancer in distal esophagus with suspicious gastroesophageal lymphadenopathy. No lesions in liver, lungs, or adrenal glands. There were multiple metastases in the brain and vertex calvarial areas in addition to another hypermetabolic lesion in the left ulna. The patient was started on palliative chemotherapy with FOLFOX and whole brain radiation. DISCUSSION: Esophageal cancer is a disease associated with high mortality and an increasing incidence in the United States. Risk factors include Barrett esophagus, GERD, smoking, and obesity. Common presenting symptoms include dysphagia, weight loss, heartburn, regurgitation, retrosternal pain, fatigue, and anemia. Esophageal cancer is metastatic in 18% of cases at diagnosis. The most common sites of metastasis are abdominal lymph nodes, liver, and lung. Brain metastases were present in only 2%[3]. Screening for esophageal cancer is not recommended for the general population in the United States because it is rare and there is a lack of evidence that screening improves survival. CONCLUSIONS: Clinicians should have a high suspicion for slowly growing head masses and bone pain in patients with significant risk factors for cancer. Esophageal cancer is a highly aggressive malignancy that does not always present with dysphagia or heartburn. Reference #1: Turk CC, Bacanli AB, Kara NN. Incidence and clinical significance of lesions presenting as a scalp mass in adult patients. Acta Neurochirurgica. 2015 Feb, 157(2): 217-223. Reference #2: Stark AM, Eichmann T, Mehdorn HM. Skull metastases: clinical features, differential diagnosis, and review of the literature. Surgical Neurology. 2003 Sep; 60(3): 219-25. Reference #3: Quint LE, Hepburn LM, Francis IR, Whyte RI, Orringer MB. Incidence and distribution of distant metastases from newly diagnosed esophageal carcinoma. Cancer. 1995 Oct 1; 76(7): 1120-5. DISCLOSURES: No relevant relationships by jayanth keshavamurthy, source=Web Response No relevant relationships by Eugene Quarshie, source=Web Response No relevant relationships by Varsha Taskar, source=Web Response No relevant relationships by Thomas Whitton, source=Web Response

SUN-616 A Rapidly Enlarging Neck Mass in a 59-Year-Old Woman

Background: Anaplastic thyroid cancers (ATC) are extremely aggressive and rapidly fatal. We report a case of ATC presenting as a rapidly enlarging, painful neck mass. Case Presentation: A 59 year old female presented with 2 month history of a right-sided, painful neck mass and inability to project her voice. Review of systems was positive for dyspnea when supine, intermittent headaches, and difficulty swallowing. Exam revealed a palpable 3.0 cm hard, tender thyroid mass. Cranial nerves were grossly intact. Initial laboratory results showed TSH 1.1 mcIU/mL, calcitonin <2.0 pg/mL. Fine needle aspiration of thyroid mass revealed large cells with abundant eosinophilic cytoplasm, nuclear pleomorphism, and abundant necrosis. Thyroid u/s revealed a 3.5 cm irregular right thyroid mass with cystic areas, abutting the trachea and multiple nodules with irregular margins in the left thyroid lobe. Neck CT described a 3.8 cm mass with variegated enhancement abutting the trachea without luminal invasion. Brain MRI noted a 2.1 cm dural mass over the left occipital lobe with histology confirming metastatic ATC. Discussion Patient’s thyroid biopsy revealed de-differentiated (anaplastic) thyroid cancer given the abundant necrosis and negative TTF-1 mRNA. Distant metastatic disease was found on PET scan to include brain and lungs. This is a rare (1-2 cases per million), aggressive and often lethal malignancy (1). The mean age at diagnosis is 65 years with 60-70% of tumors occurring in women. Mean survival time is usually less than 6 months with 90% presenting with metastatic disease (2). An enlarging hard and often tender neck mass and cervical lymphadenopathy are typical at presentation. On cytopathology, morphologic patterns include spindle cell, pleomorphic giant cell +/- squamoid with extensive necrosis is typical as seen in our patient. There is no effective therapy for metastatic anaplastic thyroid cancer with few randomized control trials evaluating different strategies. Our patient underwent total thyroidectomy with tracheostomy tube placement to protect her airway. Resection of the dural-based mass revealed metastatic ATC. In addition to surgery, chemotherapy and radiation have been used as well as mutation directed (BRAF and p53 are common in anaplastic) therapy but studies have been small and only showing a 29% response rate (3). Radiation and chemotherapy were planned but ultimately, the patient chose to forgo further therapy and return to her native country of Kenya.

RARE-23. PRIMARY INTRA-AXIAL CENTRAL NERVOUS SYSTEM INFLAMMATORY MYOFIBROBLASTIC TUMOR, ALK NEGATIVE: A RARE ENTITY

Inflammatory myofibroblastic tumor (IMT) is a rare spindle cell neoplasm with admixed inflammatory cells which occurs mainly in the abdomen or thoracic cavity of children or young adults. Primary CNS IMT is exceedingly rare with roughly 100 reported cases in the world literature, most of which are extra-axial and occur as a dural-based mass. Herein, we describe a rare case of intra-axial primary CNS IMT. A 24 year-old healthy female presented to the ER after falling and striking her head. A CT scan revealed an acute intraparenchymal hemorrhage, as well as a mass within the right frontoparietal lobe. Subsequent MRI was performed further characterizing the lesion as a 3.0 cm intra-axial tumor. Craniotomy was performed displaying a circumscribed neoplasm with relatively bland spindle cells arranged in fascicles with an admixed lymphoplasmacytic infiltrate. Mitotic activity was present but limited. Immunohistochemistry (IHC) was positive for TLE1 and vimentin but negative for GFAP, ALK, SMA, MUC4, KIT and β-catenin. Additional molecular testing by FISH for ALK (2p23) rearrangement was negative. We report a rare case of intra-axial primary CNS ALK Negative IMT. Approximately half of all IMTs harbor a clonal translocation that activates the anaplastic lymphoma kinase (ALK)-receptor tyrosine kinase at the 2p23 locus. As a result, ALK is overexpressed and can be detected by IHC or via molecular diagnostics (FISH, RNA sequencing or RT-PCR). Since this case was processed, additional novel anomalies involving rearrangements in ROS1, RET, ETV6 and/or NTRK3 genes have been described and could lead to promising therapeutic targets in the future.