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Osteosarcoma of the skull has poor outcomes. This case report describes the presentation and clinical course of a patient who was diagnosed with osteosarcoma of the skull involving the cribriform plate. After her initial diagnosis, she developed esotropia with severe unremitting headaches. She received palliative radiation, followed by chemotherapy, and responded well. Her initial symptoms involving the cranial nerves subsided, and her response was sustained. This report illustrates the need to effectively treat osteosarcoma of the skull despite its reported poor outcomes.

Patients with novel corona virus infection (COVID-19) can develop acute respiratory failure secondary to acute respiratory distress syndrome. Cytokine storm is suggested as one of underlying mechanisms for the rapid clinical decline. Immunocompromised patients and cancer patients are at particular risk for poor outcomes due to COVID-19 infection. This case report describes the presentation and clinical course of a cancer survivor who became critically ill and required mechanical ventilation. The patient was treated with hydroxychloroquine, azithromycin, and ceftriaxone; however, he remained febrile, hypoxemic, continued to require full mechanical ventilator support and his chest X-ray showed increased bilateral infiltrates. The patient was treated with tocilizumab, after which he improved and was successfully extubated. This report illustrates a possible role of tocilizumab in management of cytokine storm in critically ill patients with COVID-19 infection.

Enasidenib is an FDA-approved isocitrate dehydrogenase 2 (IDH2) inhibitor, which is used in the treatment of acute myeloid leukemia (AML). We present a case of AML with an IDH2 mutation treated with a regimen of enasidenib and 5-azacitidine, where thyroiditis was noted to be a part of differentiation syndrome. The patient is a 77-year-old woman with IDH2-mutated AML who had initially been started on 100 mg of enasidenib and then presented with dyspnea and was diagnosed with pleural effusion – a common presentation with enasidenib – but was also noted to have thyroiditis. She was started on steroids, but due to continued hyperbilirubinemia and thyroiditis, her dose of enasidenib was reduced to half, which resulted in clinical improvement. This case demonstrates thyroiditis as one of the rare manifestations in the treatment of AML with enasidenib-induced differentiation syndrome.

Chronic myelogenous leukemia (CML) is a hematopoietic disorder caused by the BCR/ABL gene or Philadelphia chromosome. The first Food and Drug Administration (FDA)-approved tyrosine kinase inhibitor for treatment of CML was imatinib in 2001. Since then, multiple therapies, such as nilotinib, dasatinib, bosutinib, and, more recently, ponatinib, have made their way as viable treatment options for first-line and secondary therapies. Most patients tend to respond to first-line treatment. Although there is a subset of patients who do not achieve complete molecular response with first line, newer options have proven beneficial. As we progress through therapies, there still remain some patients who do not adequately respond to current available therapies. The treatment options and guidelines become more difficult in such situations, not only with respect to cost but also patient quality of life and satisfaction. We discuss a 75-year-old white female with CML, who has had multiple therapies with hematological remission but has never achieved complete molecular remission, currently on bosutinib and tolerating it well.

Ruxolitinib has become a new therapeutic option for steroid refractory graft-versus-host disease (srGVHD), with a substantial remission rate. Its anti-inflammatory properties by blocking interleukin pathways have made it a novel therapeutic approach to inflammatory disease processes, such as GVHD. The long-term use of ruxolitinib has not been explicitly studied outside the context in the treatment of multiple myeloma. With current clinical trials underway for the use of ruxolitinib in srGVHD, there are still no current guidelines or protocols for long-term clinical use. Of the available literature showing ruxolitinib utilization for srGVHD, most cases lead to resolution and eventual discontinuation. We present a case of a 32-year-old male on ruxolitinib with GVHD status postmatched unrelated donor stem cell transplant (MUD SCT) for acute myeloid leukemia (AML) with FLT3 mutation currently on ruxolitinib for 5 years who is not able to tolerate reduction in dosage due to flare-ups. We discuss the clinical implications and nuance of therapy with ruxolitinib with unknown long-term effects and weigh the risks and benefits.

Adrenal myelolipomas are rare benign tumors of the adrenal cortex composed of adipose and hematopoietic cells. They have been postulated to arise from repeated stimulation by stress, inflammation and ACTH oversecretion. Myelolipomas are usually detected incidentally on imaging and do not require any active intervention besides regular follow-up by imaging. However, myelolipomas may insidiously grow to large sizes and cause mass effects and hemorrhage. Timely diagnosis and surgical resection are curative and lifesaving.

Gastrointestinal stromal tumors (GISTs) are rare abdominal tumors which arise from the interstitial cells of Cajal in the gastrointestinal tract. Gastric GISTs are the most commonly seen GIST tumors and may grow to a very large size. They are often associated with abdominal pain, anorexia and weight loss. Most of them can be detected by CT. These tumors have been found to harbor mutations in CD117 which causes constitutional activation of the tyrosine kinase signaling pathway and is considered to be pathognomic. Tyrosine kinase inhibitors such as imatinib have revolutionized the treatment of these tumors, which are otherwise resistant to conventional chemotherapy and radiotherapy. Although surgical resection is the mainstay of treatment, tyrosine kinase inhibitors have been useful in prolonging the recurrence-free survival of these patients. Resistance to imatinib has been reported in GISTs with specific mutations. We present a case of gastric GIST which grew to a very large size and was associated with abdominal pain and weight loss. It was successfully resected and the patient was commenced on imatinib therapy.

Primary effusion lymphoma (PEL) is a subset of large B cell lymphomas and has been mostly associated with human immunodeficiency virus infection. Rare cases have been reported in organ transplant recipients and chronic hepatitis C patients. It typically presents as an effusion in the pleural and pericardial spaces but rarely disseminates. However, involvement of the gastrointestinal tract, lymph nodes and bone marrow has been reported. Diagnosis is based on characteristic clinical, histopathological and immunohistochemical features. We present a case with a right atrial mass which tested positive for human herpes virus 8 (HHV-8), CD20, CD30 and lambda light chains and negative for CD138, kappa light chain, PAX5, Epstein-Barr virus, latent membrane protein 1, CD2, CD3, CD8 and CD56. Bilateral pleural effusions and pericardial effusions were noted which tested positive for HHV-8, CD30 and CD45. The patient responded well to the R-EPOCH regimen with complete resolution of the effusions and a significant decrease in the size of the right atrial mass. This case report illustrates the atypical manifestation of PEL as a right atrial mass.

Uterine leiomyosarcoma is a rare malignancy and carries a poorer prognosis when compared to endometrial carcinoma. It has been observed to metastasize to all the major organs. It presents with symptoms of abdominal distension, vaginal bleeding and may pass unnoticed until an advanced stage in patients with leiomyomas. Surgery is a viable option in patients with disease limited to the uterus, but metastasis to the heart may require surgery to prevent acute and catastrophic complications. The case described here involves metastasis to the tricuspid valve, which caused severe tricuspid regurgitation in the setting of acute pulmonary embolism. Surgical resection restored cardiac function and stabilized the patient. This case illustrates a rare site of metastasis of leiomyosarcoma which required immediate intervention and resulted in a favorable outcome.

Renal cell carcinoma is an aggressive disease with a high rate of mortality. It is known to metastasize to the lung, liver, bone and brain. However, manifestation through lymphatic spread to the lungs is rare. Lymphangitic carcinomatosis is commonly observed in malignancies of the breast, lung, pancreas, colon and cervix. It is unusual to observe lymphangitic carcinomatosis of the lungs due to renal cell carcinoma. Lymphangitic carcinomatosis of the lungs may result in severe respiratory distress and may be the direct cause of death. Currently, there are no known modalities of preventing or slowing lymphangitic carcinomatosis besides treating the primary tumor. However, early detection may change the course of the disease and may prolong survival. This is compounded by the difficulty involved in diagnosing lymphangitic carcinomatosis of the lung which frequently involves lung biopsy. Immunohistochemical studies are often used in conjunction with regular histochemistry in ascertaining the primary tumor and in differentiating it from pulmonary metastasis. In this case report, we describe the presentation and clinical course of renal cell carcinoma in a patient which manifested as lymphangitis carcinomatosa of the lungs. The patient underwent surgical resection of the primary tumor with lymph node resection but presented with a fulminant lymphangitic carcinomatosis of the lungs within two weeks. Immunohistochemistry of the tissue obtained by the biopsy confirmed the diagnosis which was subsequently corroborated during his autopsy. This case illustrates the necessity of an urgent follow-up of chemotherapy and immunotherapy in such patients.

Pulmonary embolism (PE) is a deceptive condition which is often incorrectly diagnosed leading to high morbidity and mortality. We present a case where symptoms were localised to different areas of the body starting with post-traumatic pain over lower extremity varicosities that migrated sequentially over a month to the knee, hip, back, abdomen and chest finally presenting as syncope. Despite a low pre-test clinical probability, a very high index of suspicion led to a timely diagnosis of a massive bilateral PE that eventually caused a troponin leak. The aetiology is highly suspicious of a thrombus which originated in the veins of the leg due to trauma over varicose veins.The case described here exemplifies the importance of considering trauma to varicosities as a risk factor for embolism when the clinical picture is concerning but other signs and symptoms of PE are not apparent.

Diffuse alveolar hemorrhage (DAH) can be caused by several etiologies including vasculitis, drug exposure, anticoagulants, infections, mitral valve stenosis, and regurgitation. Chronic mitral valve regurgitation (MR) has been well documented as an etiological factor for DAH, but there have been only a few cases which have reported acute mitral valve regurgitation as an etiology of DAH. Acute mitral valve regurgitation can be a life-threatening condition and often requires urgent intervention. In rare cases, acute mitral regurgitation may result in a regurgitant jet which is directed towards the right upper pulmonary vein and may specifically cause right-sided pulmonary edema and right-sided DAH. Surgical repair of the mitral valve results in rapid resolution of DAH. Acute MR should be considered as a possible etiology in patients presenting with unilateral pulmonary edema, hemoptysis, and DAH.

Uterine leiomyomas have been reported to metastasize to various organs including the lungs, skeletal muscles, bone marrow, peritoneum, and heart. They may present with symptoms related to the metastases several years after hysterectomy. These tumors regress after menopause, and it is rare to detect active tumors in postmenopausal women. Despite their ability to metastasize, they are considered to be benign due to the lack of anaplasia. Pulmonary benign metastasizing leiomyoma is usually detected in the form of pulmonary nodules incidentally on imaging. Tissue biopsy of these nodules is required to identify them as benign metastasizing leiomyomas. Immunohistochemical analysis and molecular profiling may further help detect any malignant transformation in it. Untreated pulmonary benign metastasizing leiomyoma may result in the formation of cystic structures, destruction of lung parenchyma, and hemothorax and may cause respiratory failure. Surgical resection and hormonal therapy help prevent progression of this disease and provide an avenue for a cure.

Sarcoidosis is a multisystem disease which is most commonly manifested in the pulmonary system. However, extrapulmonary manifestations have also been frequently reported. Isolated occurrence of sarcoidosis in the genital system is rare and poses a diagnostic and therapeutic dilemma. Uterine sarcoidosis can present with cervical erosions, endometrial polypoid lesions, and recurrent serometra. In majority of cases, it is diagnosed by endometrial curettage, but it has also been detected by examination of hysterectomy, polypectomy, and autopsy specimens. Nonnecrotizing granulomas are the characteristic pathologic finding of sarcoidosis. However, many infectious and noninfectious etiologies including certain neoplasms can produce similar granulomatous reactions in the female genital tract. These conditions affect the female genital tract more commonly than sarcoidosis, and therefore it is important to rule out these conditions first before making a diagnosis of sarcoidosis. Treatment of sarcoidosis is different from treating these other conditions and the most commonly used systemic or local corticosteroids can be hazardous if the underlying cause is infection. In this case report, the clinical presentation, histopathology, clinical course, and treatment of a patient with isolated uterine sarcoidosis are described, and a brief literature review of sarcoidosis of the female genital tract is provided.

Renal medullary cancer is a rare malignancy almost exclusively seen in young patients of African ethnicity. These patients often present with the cardinal symptoms of hematuria, flank pain, and an abdominal mass, and this malignancy has been associated with patients carrying sickle cell trait. It is estimated that 300 million people worldwide carry sickle cell trait, and the presence of hematuria in these patients should be treated as a harbinger of a possible malignancy. Notably, this tumor mostly develops on the right side of the body. Patients often present with it at an advanced stage and the prognosis is poor. Therefore, a high index of suspicion in a patient of African descent presenting with a right sided abdominal mass and hematuria may assist in an early diagnosis. Current chemotherapy options are very limited, and early detection may provide a chance for surgical resection. It may also provide a bigger time frame for the initiation of novel chemotherapy regimens in patients who fail current chemotherapy regimens.

Ovarian hyperstimulation syndrome (OHSS) is an iatrogenic complication of controlled ovarian hyperstimulation (COH) protocols performed in women undergoing assisted reproductive technologies. Overstimulation of the ovaries results in the overproduction of vasoactive cytokines and mediators by the ovaries, thereby causing a generalized capillary leak and acute shift of protein-rich fluid from the intravascular compartment into the third space. This may lead to the development of ascites, pleural effusions, pericardial effusion, anasarca, intravascular volume depletion, hemoconcentration, oliguria, hypoalbuminemia and hypoproteinemia, electrolyte imbalances, acute renal failure, abdominal compartment syndrome, thromboembolic events, and adult respiratory distress syndrome. The only effective treatment available is prevention of the syndrome from developing by individualizing the stimulation protocol, especially in high-risk patients. Once the syndrome develops, the management is mainly supportive. Oliguria and some degree of acute renal failure commonly develop in patients with moderate to severe OHSS and are usually due to prerenal causes. Acute renal failure (ARF) secondary to obstructive uropathy is rare. Here we report a case of severe, life-threatening OHSS resulting in ARF secondary to obstructive uropathy.

INSM1 is a zinc-finger protein expressed in the developing nervous system and pancreas as well as in medulloblastomas and neuroendocrine tumors. With in situ hybridization combined with immunohistochemistry, we detected INSM1 mRNA in all embryonic to adult neuroproliferative areas examined: embryonic neocortex, ganglionic eminence, midbrain, retina, hindbrain, and spinal cord; autonomic, dorsal root, trigeminal and spiral ganglia; olfactory and vomeronasal organ epithelia; postnatal cerebellum; and juvenile to adult subgranular zone of dentate gyrus, subventricular zone, and rostral migratory stream leading to olfactory bulb. In most of these neurogenic areas, subsets of neuronal progenitors and nascent, but not mature, neurons express INSM1. For example, in developing cerebellum, INSM1 is present in proliferating progenitors of the outer external granule layer (EGL) and in postmitotic cells of the inner EGL, but not in mature granule cell neurons. Also, lining the neural tube from spinal cord to neocortex in mouse as well as human embryos, cells undergoing mitosis apically do not express INSM1. By contrast, nonsurface progenitors located in the basal ventricular and/or subventricular zones express INSM1. Whereas apical progenitors are proliferative and generate one or two additional progenitors, basal progenitors are thought to divide terminally and symmetrically to produce two neurons. The nematode ortholog of INSM1, EGL-46, is expressed during terminal symmetric neurogenic divisions and regulates the termination of proliferation. We propose that, in mice and humans, INSM1 is likewise expressed transiently during terminal neurogenic divisions, from late progenitors to nascent neurons, and particularly during symmetric neuronogenic divisions., (Copyright 2008 Wiley-Liss, Inc.)