HighlightsPrimitive neuroectodermal tumor of the uterus is extremely rare.Diagnosis requires timely evaluation with molecular analysis.Different combinations of adjuvant chemotherapy have been reported.
Background: The association of malignant tumors and sarcoidosis is uncommon in clinical practice. It has been supposed, but not clearly demonstrated, that the two entities may be etiologically related. Case Report: A patient with a rectal carcinoid tumor and a bilateral hilar enlargement due to sarcoidosis is described. The patient had no specific symptoms from the endocrine tumor, and sarcoidosis was a coincidental finding. He underwent a low anterior rectal resection. Histological examination of the specimen revealed a T3–4 N0 carcinoid tumor, and sarcoidosis was proven by mediastinal biopsy. The patient received no further therapy for sarcoidosis. One year postoperatively the patient has no evidence for recurrent disease or metastasis, but bilateral hilar enlargement due to sarcoidosis is present even now. Conclusion: Only 4 patients with sarcoidosis and intestinal carcinoid tumor are reported in the literature. This is the first report of a patient with rectal carcinoid tumor associated with sarcoidosis. We emphasize the importance of mediastinal biopsy in patients with cancer and associated hilar lymphadenopathy in order to avoid the diagnosis of disseminated malignant disease.
Storage pool deficiency (SPD) is a group of rare platelet disorders that result from deficiencies in α-granules, δ-granules, or both. One type of α-SPD is gray platelet syndrome (GPS), caused by mutations in the neurobeachin-like 2 (NBEAL2) gene that results in a bleeding diathesis, thrombocytopenia, splenomegaly, and progressive myelofibrosis. Due to the lack of α-granules, platelets have a gray and degranulated appearance by light microscopy. However, definitive diagnosis of GPS requires confirmation of α-granule deficiency by electron microscopy. Treatment is nonspecific, with the conservative utilization of platelet transfusions being the most important form of therapy. We present a case of a 17-year-old female with a past medical history of thrombocytopenia, first identified at the age of five. Her clinical symptomatology included chronic fatigue, gingival bleeding, bruising, menorrhagia, and leg pain. This report will discuss both the clinical and the pathophysiologic aspects of this rare platelet disorder.
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