SHM Converge Scientific Abstract ePoster Gallery-Diffuse Lymphadenopathy in Sickle Cell Trait: A Rare Case of Renal Medullary Carcinoma

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This case describes a 30-year-old woman with sickle cell trait who presented with severe right upper quadrant abdominal pain, chronic cough, chest pain, diffuse lymphadenopathy, and pulmonary nodules. She also had a recent pulmonary embolism after running out of rivaroxaban. Initial labs were largely unremarkable aside from anemia and elevated D-dimer. Imaging showed mediastinal, hilar, cervical, and supraclavicular lymphadenopathy, multiple bilateral lung nodules, and later CT identified a right renal mass with retroperitoneal and metastatic disease, including hepatic lesions.<br /><br />Because the presentation could fit infection, inflammatory disease, or malignancy, a broad workup was pursued. Fungal testing, tuberculosis testing, and sarcoidosis evaluation were negative or normal. A cervical lymph node biopsy ultimately revealed renal medullary carcinoma (RMC), a rare but highly aggressive cancer that occurs almost exclusively in patients with sickle cell trait.<br /><br />The patient was treated with platinum-based chemotherapy using paclitaxel, carboplatin, and gemcitabine, which produced some response but was stopped due to severe neutropenia and anorexia. Nephrectomy was not feasible because of extensive metastatic spread. Second-line treatments with olaparib and nivolumab were tried without benefit. She was referred to hospice and died 9 months after diagnosis at age 31.<br /><br />The report emphasizes that RMC is rare, with fewer than 300 cases reported, but should be considered early in young patients with sickle cell trait who present with diffuse lymphadenopathy or metastatic disease. Because prognosis is poor and survival is typically limited even with treatment, early recognition is important to begin therapy as soon as possible.

Asset Subtitle

Susan L. Feldt

Meta Tag

Author List Daniel J. Aldrich, Ethan Molitch-HoU, Susan L. Feldt

Category Clinical Vignettes

Concept Renal Medullary Carcinoma

Concept Sickle Cell Trait

Concept Biopsy

Concept Diffuse Lymphadenopathy

Concept Metastatic Disease

Distinguished Non-Finalist

Presenter Organization University of Chicago

Presenting Author Susan L. Feldt

Track Adult

Keywords

renal medullary carcinoma

sickle cell trait

diffuse lymphadenopathy

pulmonary nodules

right renal mass

metastatic disease

platinum-based chemotherapy

carboplatin

nivolumab

hospice

Renal Medullary Carcinoma

Sickle Cell Trait

Biopsy

Diffuse Lymphadenopathy

Metastatic Disease