False positive PET scan of hereditary leiomyomatosis and renal cell cancer: A case report

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited condition, predisposing patients to develop cutaneous or uterine leiomyomas along with aggressive type 2 papillary renal cell carcinoma (RCC). Patients are routinely monitored for cancer and metastases. A 62-year-old man with HL...

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Main Authors: Heather M. Zimmerman, BSN, Ralina Karagenova, MS, Bao Xin Liang, BS, David J. Elpern, MD, Douglas W. Johnson, MD
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Radiology Case Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S1930043325004947
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author Heather M. Zimmerman, BSN
Ralina Karagenova, MS
Bao Xin Liang, BS
David J. Elpern, MD
Douglas W. Johnson, MD
author_facet Heather M. Zimmerman, BSN
Ralina Karagenova, MS
Bao Xin Liang, BS
David J. Elpern, MD
Douglas W. Johnson, MD
author_sort Heather M. Zimmerman, BSN
collection DOAJ
description Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited condition, predisposing patients to develop cutaneous or uterine leiomyomas along with aggressive type 2 papillary renal cell carcinoma (RCC). Patients are routinely monitored for cancer and metastases. A 62-year-old man with HLRCC presented to the dermatology clinic, referred by oncology because he potentially had metastatic (RCC) based on a recent PET scan. The patient’s medical history revealed stage 1 papillary RCC of the right kidney and mid-left kidney (both surgically removed) and multiple cutaneous leiomyomas. Physical exam revealed multiple nodules on the abdomen, lower extremities, and left shoulder. PET scan showed a hypermetabolic cutaneous lesion in the superior aspect of the left shoulder, concerning for metastatic disease. A punch biopsy of the 9 mm left shoulder nodule was performed. Microscopic evaluation showed proliferation of spindled cells arranged in intersecting fascicles within the dermis. The spindle cells had cigar-shaped nuclei with abundant eosinophilic cytoplasm. There was no cytologic atypia or increased mitotic activity. The cells were positive for desmin immunostain. The patient was offered an excision or biopsy of the benign leiomyoma, and he requested a biopsy. He was advised to seek further treatment if the lesions became symptomatic. Patients with HLRCC may have benign cutaneous leiomyomas that are suspected of being metastatic disease, with false positive PET scans. Care should be taken to counsel patients on the potential for false-positive PET scans in this condition, and screening should be conducted in the case of multiple cutaneous or uterine leiomyomas.
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spelling doaj-art-651c1beb3dd04a4c823adba9de8d5c7b2025-08-20T03:34:17ZengElsevierRadiology Case Reports1930-04332025-09-012094342434610.1016/j.radcr.2025.05.061False positive PET scan of hereditary leiomyomatosis and renal cell cancer: A case reportHeather M. Zimmerman, BSN0Ralina Karagenova, MS1Bao Xin Liang, BS2David J. Elpern, MD3Douglas W. Johnson, MD4University of Hawaii John A. Burns School of Medicine, 651 Ilalo St., OME MEB 3rd Floor, Honolulu, HI, 96813, USAUniversity of Hawaii John A. Burns School of Medicine, 651 Ilalo St., OME MEB 3rd Floor, Honolulu, HI, 96813, USAUniversity of Hawaii John A. Burns School of Medicine, 651 Ilalo St., OME MEB 3rd Floor, Honolulu, HI, 96813, USAThe Skin Clinic, 12 Meadow St, Williamstown, MA 01267, USAUniversity of Hawaii John A. Burns School of Medicine, 651 Ilalo St., OME MEB 3rd Floor, Honolulu, HI, 96813, USA; The Queen’s Health System, 1380 Lusitana St., Honolulu, HI 96813, USA; Corresponding author.Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited condition, predisposing patients to develop cutaneous or uterine leiomyomas along with aggressive type 2 papillary renal cell carcinoma (RCC). Patients are routinely monitored for cancer and metastases. A 62-year-old man with HLRCC presented to the dermatology clinic, referred by oncology because he potentially had metastatic (RCC) based on a recent PET scan. The patient’s medical history revealed stage 1 papillary RCC of the right kidney and mid-left kidney (both surgically removed) and multiple cutaneous leiomyomas. Physical exam revealed multiple nodules on the abdomen, lower extremities, and left shoulder. PET scan showed a hypermetabolic cutaneous lesion in the superior aspect of the left shoulder, concerning for metastatic disease. A punch biopsy of the 9 mm left shoulder nodule was performed. Microscopic evaluation showed proliferation of spindled cells arranged in intersecting fascicles within the dermis. The spindle cells had cigar-shaped nuclei with abundant eosinophilic cytoplasm. There was no cytologic atypia or increased mitotic activity. The cells were positive for desmin immunostain. The patient was offered an excision or biopsy of the benign leiomyoma, and he requested a biopsy. He was advised to seek further treatment if the lesions became symptomatic. Patients with HLRCC may have benign cutaneous leiomyomas that are suspected of being metastatic disease, with false positive PET scans. Care should be taken to counsel patients on the potential for false-positive PET scans in this condition, and screening should be conducted in the case of multiple cutaneous or uterine leiomyomas.http://www.sciencedirect.com/science/article/pii/S1930043325004947Case reportHereditary leiomyomatosis renal cell carcinomaFalse positive PETCutaneous leiomyomaMetastasis
spellingShingle Heather M. Zimmerman, BSN
Ralina Karagenova, MS
Bao Xin Liang, BS
David J. Elpern, MD
Douglas W. Johnson, MD
False positive PET scan of hereditary leiomyomatosis and renal cell cancer: A case report
Radiology Case Reports
Case report
Hereditary leiomyomatosis renal cell carcinoma
False positive PET
Cutaneous leiomyoma
Metastasis
title False positive PET scan of hereditary leiomyomatosis and renal cell cancer: A case report
title_full False positive PET scan of hereditary leiomyomatosis and renal cell cancer: A case report
title_fullStr False positive PET scan of hereditary leiomyomatosis and renal cell cancer: A case report
title_full_unstemmed False positive PET scan of hereditary leiomyomatosis and renal cell cancer: A case report
title_short False positive PET scan of hereditary leiomyomatosis and renal cell cancer: A case report
title_sort false positive pet scan of hereditary leiomyomatosis and renal cell cancer a case report
topic Case report
Hereditary leiomyomatosis renal cell carcinoma
False positive PET
Cutaneous leiomyoma
Metastasis
url http://www.sciencedirect.com/science/article/pii/S1930043325004947
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