Oncogenic GOPC-ROS1 Fusion Identified in a Congenital Glioblastoma Case.

Congenital glioblastoma (GBM) is a rare brain tumor of infancy. While histologically they resemble pediatric and adult GBM, growing evidence suggests a distinct molecular profile. We report the case of a 7-day-old infant female with congenital GBM found to harbor a GOPC-ROS1 fusion. She underwent surgical resection, moderate-intensity chemotherapy without radiation, and remains disease-free 4 years from completion of therapy. While the frequency of this mutation is not known, the identification of this oncogenic driver may provide insight into the pathogenesis of GBM in this age group and may serve as a molecular target for select patients.

Corrigendum to "Bilateral Proximal Tibia Stress Fractures through Persistent Physes".

[This corrects the article DOI: 10.1155/2018/8181547.].

Bilateral Proximal Tibia Stress Fractures through Persistent Physes.

INTRODUCTION: Fatigue fractures are stress fractures resulting from repetitive trauma in areas of stress concentration. Prior case reports and studies have described stress fractures through persistent physes about the olecranon and distal fibula, as evidenced by hyaline cartilage on histologic analysis. However, there have been no documented proximal tibia stress fractures through persistent physes. CASE PRESENTATION: A 29-year-old military male basic trainee with varus alignment about his knees suffered bilateral medial tibial plateau stress fractures several weeks into military basic training. He underwent radiographic and laboratory evaluation of his stress fractures and eventual operative fixation of his bilateral tibial plateau fractures. Intraoperative specimens obtained from the fracture sites distal to the articular surface demonstrated abnormal fibrous appearing tissue. Histology demonstrated the presence of hyaline cartilage. DISCUSSION: A 29-year-old military male basic trainee had bilateral proximal tibia stress fractures through persistent physes confirmed with biopsies demonstrating hyaline cartilage. Our belief is that the patient's persistent physes placed him at a greater risk for stress fractures and these may benefit from fixation in soldiers and athletes.

A Unique Case of Muscle-Invasive Metastatic Breast Cancer Mimicking Myositis.

Breast cancer rarely metastasizes to the muscles, and it is even more unusual for this phenomenon to result in airway compromise. We present a unique case of an 84-year-old female who presented with neck swelling and upper airway obstruction due to metastatic breast cancer invading the sternocleidomastoid muscles. After establishing the diagnosis and discussing possible treatment options, the patient elected for antiestrogen therapy, palliative tracheostomy, radiation therapy, and hospice services.

Intracranial neurenteric cyst mimicking an ependymoma: imaging features, pathologic correlation and review of literature.

We present a case of a 57-year-old female with four-months of diplopia and vertigo. MRI revealed a mixed cystic and solid partially enhancing lesion of the 4th ventricle, foramen of Luschka and cerebellopontine angle. Preoperative differential diagnosis favored ependymoma. Biopsy revealed a neurenteric cyst, a benign developmental lesion that rarely occurs intracranially. This case highlights several atypical manifestations of intracranial neurenteric cyst, with regions of histologically benign solid enhancement, multicompartmental extra-axial location mimicking an ependymoma, and rapid recurrence without evidence of underlying malignancy.

Delayed Diagnosis of TSH-Secreting Adenoma Attributed to Worsening Post-Traumatic Stress Disorder Symptoms in a Military Veteran Because of Provider Anchoring Bias.

INTRODUCTION: Anchoring bias occurs when clinicians hold on to previously known information about a patient, with failure to consider the full realm of possibilities to explain new findings. We present a case of delayed diagnosis of thyroid-stimulating-hormone-secreting pituitary adenoma (TSHoma), a rare disorder, in a military veteran whose symptoms were misconstrued as being caused from worsening of his prior diagnosis of post-traumatic stress disorder (PTSD). Anchoring bias in this case led to 2-year delay in the correct diagnosis. METHODS: The clinical, laboratory, radiologic, and pathologic results are presented. RESULTS: We report a case of a 44-year-old retired male Army soldier with a prior diagnosis of PTSD who was evaluated for new symptoms including headaches, blurry vision, palpitations, and anxiety. These symptoms were considered by multiple services as worsening of his PTSD, with acknowledgment of normal thyroid hormone levels from 2 years prior, but with no levels at the time of the new presentation. Attempts to treat with standard PTSD therapies were unsuccessful. When thyroid hormone levels were eventually rechecked 2 years later, he was found to have an inappropriately normal level of thyroid-stimulating hormone (1.9 mcIU/mL) in the setting of elevated free thyroxine (2.30 pg/mL) and free triiodothyronine (5.8 ng/dL). With magnetic resonance imaging revealing a 1.4-cm pituitary macroadenoma, he was diagnosed with a TSHoma. A trial of octreotide, a somatostatin analog, was attempted to shrink the tumor size. However, because of the patient's intolerance of this medication, he underwent endoscopic transsphenoidal surgery as definitive treatment. Pathologic analysis of his tumor was consistent with TSHoma. On various follow-up intervals, he had normalization of thyroid function tests, no evidence of residual tumor on 6-month postoperative imaging, and reported improvement in his symptoms. CONCLUSION: This case highlights the details of a rare diagnosis of TSHoma, which has an estimated 1 to 2 cases per million in the general population and an unknown prevalence in the military population, in a veteran who had symptoms that were presumed to be worsening PTSD. While understandable to attribute new symptoms to pre-existing diagnoses such as PTSD, clinicians should consider the possibility of alternative diagnoses and perform the routine workup when indicated.

A Case of Undiagnosed Craniopharyngioma in an Army Mechanic.

Primary care providers are often the initial evaluators of soldiers presenting with acute eye complaints. It is crucial for these providers to master performing the basic eye examination with a systematic approach. Obtaining a thorough history is an important first step to the eye examination, but providers need to be careful not to narrow the diagnosis solely based on the history. Regardless of the presentation of the ocular complaints, a complete ocular examination must be performed. This article presents a case of brain tumor in an active duty soldier who was initially undiagnosed because of its unusual presentation.

Clinical Outcome of Silent Subtype III Pituitary Adenomas Diagnosed by Immunohistochemistry.

Silent subtype III pituitary adenomas (SS-3) are nonfunctioning radiosensitive adenomas that may be associated with an increased risk of recurrence and invasion. The features that have been proposed to be diagnostically important are identifiable by electron microscopy (EM) and include an enlarged Golgi apparatus, along with several other ultrastructural features. The often limited availability of EM and the uncertainty about the relative importance of individual features pose practical challenges to the diagnosis. We hypothesized that it may be possible to diagnose SS-3 based solely on a markedly enlarged Golgi apparatus identified at the light microscopic level. In this prospective study, we used immunohistochemistry (IHC) for the Golgi apparatus with the MG-160/GLG-1 antibody to identify 10 cases with features suggestive of SS-3. Electron microscopy was performed for confirmation on 1 case. Compared with a control group of 20 conventional null cell adenomas, the SS-3 adenomas showed an increased MIB-1 proliferation index (p < 0.01), a higher risk of invasion (p < 0.01), and a higher incidence of recurrence (p < 0.01). Thus, in this first controlled study, we demonstrate that SS-3 is clinically aggressive and identifiable by IHC, without the need for EM. The routine diagnostic workup of nonsecreting adenomas should rule out SS-3, which can be done quickly and efficiently by IHC.

Intracranial phosphaturic mesenchymal tumors: report of 2 cases.

Hypophosphatemia with osteomalacia may be due to a neoplasm that produces fibroblast growth factor 23 (FGF-23), which inhibits phosphate reabsorption in the kidneys. Most of these tumors occur in bone or soft tissue and occasionally in the head, although intracranial occurrence is very rare. This report describes a tumor that caused hypophosphatemia and osteomalacia and was located entirely in the right anterior cranial fossa. Radiologically, the tumor resembled a meningioma; histologically, it was a low-grade phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT). After gross-total resection, the patient's symptoms abated and laboratory values normalized. The authors also studied another PMTMCT initially diagnosed as a hemangiopericytoma that involved the left anterior cranial fossa and ethmoid sinus, and reviewed reports of 6 other intracranial tumors that induced osteomalacia, 3 entirely in the anterior cranial fossa, 2 involving the anterior cranial fossa and ethmoid sinus, and 1 in the cavernous sinus. In older children or adults who have hypophosphatemia with osteomalacia and no personal or family history of metabolic, renal, or malabsorptive disease, a neoplasm should be suspected and an imaging workup that includes the brain is warranted, with particular attention to the anterior cranial fossa. Additionally, because there are some overlapping histological features between PMTMCTs and hemangiopericytomas, it may be helpful to assess tumoral FGF-23 expression by reverse transcriptase polymerase chain reaction or immunohistochemical analysis in patients with oncogenic osteomalacia from an intracranial tumor diagnosed as, or resembling, hemangiopericytoma.