SHM Converge Scientific Abstract ePoster Gallery-Renal Medullary Carcinoma With Unusual Presentation of Heart Failure: A Case Report

Pdf Summary

A 31-year-old African-American woman with sickle cell trait presented with cough, dyspnea, orthopnea, and left forearm swelling/discomfort. Initial chest imaging revealed a large right renal mass and lung nodules suspicious for metastases. Cardiac workup showed severe systolic dysfunction with an LVEF of 15–20%, markedly elevated BNP, and elevated metanephrines, raising concern for alternative diagnoses such as pheochromocytoma/paraganglioma.<br /><br />Biopsy of the renal mass showed SMARCB1/INI1-deficient renal cell carcinoma with positive OCT3/4 and negative ALK, consistent with renal medullary carcinoma (RMC). A biopsy of the painful forearm lesion confirmed metastatic disease. Repeat metanephrines and chromogranin A were normal, helping rule out pheochromocytoma. The patient also had elevated CA-125, a marker associated with metastatic RMC.<br /><br />She was treated with the first cycle of paclitaxel and cisplatin, after which the tumor decreased in size and her LVEF improved to 45%. However, surgery was later cancelled because of metastases involving the inferior vena cava.<br /><br />The case highlights that RMC is a rare, highly aggressive renal malignancy with poor prognosis, most often seen in young adults with sickle cell trait. It also emphasizes that renal cancers can present atypically with heart failure, possibly due to hypertension, arteriovenous shunting, renal vein or IVC involvement, or tumor-related angiogenic factors. Early recognition, thorough diagnostic evaluation, and multidisciplinary management are crucial in these patients.

Asset Subtitle

Nursultan Abdreyev

Meta Tag

Author List Indira Kanybekova, Nursultan Abdreyev

Category Clinical Vignettes

Concept Renal Medullary Carcinoma

Concept Heart Failure

Concept Biopsy

Concept SMARCB1

Concept Poor Prognosis

Distinguished Non-Finalist

Presenter Organization UPMC McKeesport

Presenting Author Nursultan Abdreyev

Track Adult

Keywords

renal medullary carcinoma

sickle cell trait

SMARCB1/INI1-deficient

metastatic renal cell carcinoma

heart failure

elevated BNP

pheochromocytoma differential

paclitaxel

cisplatin

inferior vena cava metastasis

Renal Medullary Carcinoma

Heart Failure

Biopsy

SMARCB1

Poor Prognosis