ABSTRACT
Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare epithelial tumor with a biallelic mutation involving any subunit of the SDH complex. Mostly, it has low-grade morphology and a favorable prognosis. We present a case of a 36-year-old woman with weight loss, night sweats, and symptomatic anemia. Her imaging showed a hypo-enhancing heterogeneous right renal mass with invasion of the renal vein and inferior vena cava. Microscopically, the tumor had focal low-grade areas (5%) and extensive areas with high-grade features, including rhabdoid (85%) and sarcomatoid (10%) dedifferentiation. Cytoplasmic inclusions, foci of extracellular mucin, coagulative necrosis, and inflammatory infiltrate were present. The tumor cells, including rhabdoid differentiated, were focally positive for AE1/AE3. Tumor cells showed loss of SDHB immunostaining, consistent with diagnosis. Genetics testing was recommended, but the patient expired due to metastatic carcinoma. Prior studies suggest that sarcomatoid transformation and coagulative necrosis increase the risk of metastasis by up to 70% in SDH-deficient RCC. Follow-up with surveillance for other SDH-deficient neoplasms is recommended in cases of germline mutation. Here, we report the first case of SDH-deficient RCC with concomitant rhabdoid and sarcomatoid features and a detailed review of diagnostic difficulties associated with high-grade tumors.
ABSTRACT
Hemophilia is an X-linked recessive hereditary disorder that classically affects males due to the presence of only one X chromosome in males. Females are usually carriers due to the presence of counterpart X chromosome, but many times manifestations of hemophilia are seen in heterozygous carrier females. This is a result of skewed lionization, in which more normal X chromosomes are converted to bar body, and more abnormal chromosomes remain active in body cells, causing the dominant manifestation of the disease. The severity of manifestations is directly proportional to the level of the clotting factor in the blood. The disease can be severe enough to cause life-threatening bleeding, especially during delivery. Physicians usually reluctant to assume hemophilia in the differential diagnosis of the bleeding disorders in women but manifesting carrier females with hemophilia are not uncommon. Our review of the literature will give an opportunity to understand this issue more precisely as well as will discuss the disease manifestations and its updated management.
