Hem n Onc 8-8 (11) Flashcards
This patient presents with progressive hearing loss and tinnitus, and an MRI of the head reveals a radiopaque mass. This patient’s symptoms of progressive hearing loss and tinnitus as well as the location of her tumor indicate that she has?
bilateral vestibular schwannomas (radiopaque masses in cerebellopontine angles in the MRI). These rare benign tumors commonly arise in the vestibular portion of the eighth cranial nerve.
Since her tumor is bilateral, it is most likely a manifestation of an inherited condition called neurofibromatosis type 2 ((NF2). NF2 is an autosomal dominant disorder due to a mutation of the merlin gene, also called NF2, found on chromosome 22. It can predispose patients to development of multiple tumors in the nervous system.
Manifestations of NF2 can include meningiomas, ependymomas, neurofibromas, and posterior subcapsular lenticular opacities. Patients with NF2 are at heightened risk for?
developing cataracts, meningiomas, and benign eye tumors. As a result they may present with blurry or cloudy vision.
Bilateral vestibular schwannomas present with only sensorineural hearing loss, so this patient would not have an abnormal Rinne test, which tests solely for conductive hearing. Pigmented nodules of the iris are present in neurofibromatosis type 1, not type 2.
Nevus flammeus, also known as port wine stain, is commonly found in?
Sturge-Weber syndrome. Galactorrhea is due to increased prolactin levels, and is not a symptom of neurofibromatosis type 2.
The patient is presenting with a severe normocytic anemia, ptosis, and double vision. The ocular symptoms and muscular fatigue are commonly seen in patients with myasthenia gravis (MG). MG is a disorder of the neuromuscular junction, caused by ?
the autoimmune destruction of the acetylcholine receptors in the postsynaptic membrane of skeletal muscle. Symptoms of MG include diplopia, ptosis, dysphagia, weakness, and fatigue. MG is also known to be associated with thymomas. (tumors of the thymus).
Colon adenocarcinoma is associated with iron deficiency anemia, weight loss, bowel obstruction, colicky pain, or hematochezia.
Glioblastoma multiforme is a malignant brain tumor that is rapidly progressive and leads to death within 1 year of diagnosis in most cases. It would manifest with more neurologic symptoms, including seizures, altered mental status, and ataxia.
Lymphomas may lead to?
anemia by occupying the bone marrow and resulting in paucity of other marrow elements.
Small cell carcinomas of the lung are known for causing a variety of paraneoplastic syndromes, such as the syndrome of inappropriate ADH secretion and ectopic ACTH production.
This patient presents with cough, hoarseness, severe left-sided shoulder pain, droop of her left eyelid (ptosis), and constricted left pupil (miosis). The patient’s symptoms and physical exam findings are consistent with a superior sulcus tumor, otherwise known as a ?
Pancoast tumor.
Located in the apex of the lung, the mass compresses the cervical sympathetic plexus as it grows. This results in shoulder pain, Horner syndrome (ipsilateral ptosis, anhidrosis, and miosis–shown in the image), and occasionally ipsilateral neurologic deficits, such as hand weakness and hoarseness. The patient has signs and symptoms affecting the left side, so the tumor must be located in the apex of the left lung.
More recent data has shown that adenocarcinoma is now the most common cause of Pancoast tumors. Lung adenocarcinoma is not usually associated with paraneoplastic syndromes, and is generally found in the periphery of the lung.
Since mass invasion of cervical sympathetic plexus leads to ?
ipsilateral Horner syndrome and shoulder pain, right-sided signs and symptoms would indicate tumors at the apex of right lung. Squamous cell carcinoma of the lung would be suspected in patients with a smoking history or significant second-hand smoke exposure.
This patient presents with fatigue, shortness of breath, and a history of a viral upper respiratory tract infection. His physical examination reveals conjunctival pallor with slight scleral icterus and delayed capillary refill time. His laboratory test results indicate increased lactate deydrogenase (LDH), elevated bilirubin, and decreased haptoglobin. The positive direct Coombs test result and his other signs and symptoms point to a diagnosis of?
autoimmune hemolytic anemia
Anemia, manifesting with fatigue, jaundice, and shortness of breath, is the common thread running through the other causes listed?
Glucose-6-phosphate-dehydrogenase (G6PD) deficiency
Iron deficiency anemia
Microangiopathic hemolytic anemia (MAHA)
Paroxysmal nocturnal hemoglobinuria (PNH)
However, the result of a direct Coombs test would be negative in a patient with each of these disorders, thus ruling them out for this patient.
This is a 7-year-old girl presenting with cold intolerance, easy fatigability, and polyuria. She has symptoms of growth hormone deficiency (short stature), biochemically documented hypothyroidism, diabetes insipidus (polyuria), and increased intracranial pressure as suggested by bilateral papilledema (a nonspecific symptom for the patient’s condition). Imaging shows a suprasellar mass.
She likely has?
craniopharyngioma, the most common supratentorial tumor of childhood. Craniopharyngiomas account for 80% to 90% of neoplasms arising in the pituitary region. Imaging may reveal calcification within the tumor, like that shown in the images.
Ependymomas are most commonly found in the fourth ventricle and are tumors that can cause hydrocephalus. They rarely affect hormone levels or thyroid function.
Hemangioblastomas are associated with von Hippel-Lindau disease, retinal capillary hemangioblastomas, clear cell renal carcinoma, and pheochromocytoma.
Hemangioblastoma is not associated with?
alterations of hormone release. CT is the gold standard for diagnosis. Contrast enhanced MRI of the conus medullaris and cauda equina in a patient with vHL may demonstrate hemangioblastoma of the conus with extension into the nerve roots.
Like craniopharyngioma, prolactinoma also arises in the pituitary. It may manifest with symptoms similar to craniopharyngioma (such as growth hormone deficiency), but it only accounts for 2.7% of childhood tumors making it a far less likely diagnosis. In an adult patient prolactinoma would also present with signs of increased intracranial pressure, bitemporal hemianopsia, and hyperprolactinemia, which may present with amenorrhea and loss of libido.
Thyrotropinomas are very rare in childhood and do not typically suppress?
growth hormone release. This type of tumor leads to elevated T3, T4, and TSH levels and can cause similar symptoms to hyperthryoidism, including goiter, visual changes, and headache. They can be distinguished from primary hyperthyroidism by the lack of thyrotropin suppression.
This toddler presents with recurrent infections, abnormal facies, and a heart murmur secondary to a congenital heart defect. These findings are highly suggestive of DiGeorge syndrome, in which a deletion of 22q11 results in maldevelopment of the third and fourth pharyngeal pouches. Think CATCH-22 (Cardiac defects, Abnormal facies, Thymic hypoplasia/aplasia, Cleft lip/palate, Hypocalcemia, Chromosome 22 deletion), although most DiGeorge patients do not have all of these features.
Individuals with DiGeorge syndrome often have a ?
T-cell immunodeficiency (secondary to thymic aplasia) that renders them highly susceptible to infection. Flow cytometry of the peripheral blood for lymphocyte subsets will most likely reveal decreased numbers of T cells that are all CD3+. Not surprisingly, CD4+ helper and CD8+ effector T-cell numbers are also decreased.
The numbers of B cells (CD19/20) and natural killer (NK) cells (CD16/56) should be normal. Decreased B-cell counts can occur in humoral immunodeficiencies such as X-linked agammaglobulinemia and in certain variations of severe combined immunodeficiency (SCID) such as adenosine deaminase deficiency. Decreased NK cell counts can occur in ?
certain variations of SCID such as X-linked SCID and adenosine deaminase deficiency.
This patient is found at his well-child exam to have leukocoria in his left eye, which is an abnormal white reflection from the retina. In a patient this age, this finding is highly concerning for a retinoblastoma. Retinoblastoma occurs as a ?
result of the loss or mutation of both copies of the tumor suppressor gene Rb, which regulates the cell cycle and apoptosis.
Human papillomavirus virus (HPV) inactivates Rb through the action of the E7 viral protein. Additionally, HPV can inactivate the p53 tumor suppressor gene through the action of the E6 viral protein. HPV can thus cause cervical, anal, penile, and laryngeal cancer.
