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A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland - PubMed

  • ️Sat Jan 01 2022

Case Reports

A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland

Catalina A Palma et al. Urol Case Rep. 2022.

Abstract

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disorder characterised by a germline mutation of the fumarate hydratase (FH) gene, in which affected individuals have a high likelihood of developing cutaneous leiomyomas, uterine leiomyomas and renal cell cancer (RCC). HLRCC-associated RCC is characterised by presentation at a younger age than the sporadic form, its aggressive nature and rapid metastatic potential. We present the case of a 50 year old woman with FH mutation, a history of early onset symptomatic uterine leiomyomas, and RCC with the first reported case of an isolated metastasis to the pituitary gland.

Keywords: HLRCC, Hereditary Leiomyomatosis and renal cell cancer; Hereditary leiomyomatosis and renal cell cancer; IVC, Inferior vena cava; Metastasis; Pituitary gland; RCC, Renal cell carcinoma.

Crown Copyright © 2022 Published by Elsevier Inc.

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Conflict of interest statement

The authors declare no potential conflicts of interest.

Figures

Fig. 1
Fig. 1

Imaging at initial diagnosis. (A) CT Abdomen and (B) MRI Renal demonstrating large infiltrating left renal mass with associated tumour thrombus extending into the left renal vein, into the IVC and up to the right atrium. There is also extension into the left gonadal vein (C) PET Scan demonstrates markedly enlarged Left kidney (12cm in coronal plane) with increased metabolism and SUV 14.3 consistent with an aggressive neoplasm. The abnormal metabolism extends into the left renal vein, across the midline and into the inferior vena cava, where it extends inferiorly for 29mm, and superiorly to the right atrium. There are no abnormalities in abdominal or pelvic lymph nodes or liver. There is slightly increased metabolism in the left side of the ethmoid sinus which at the time was thought to reflect inflammation.

Fig. 2
Fig. 2

Findings from resection of primary tumour (A) Left kidney in perirenal fat, renal vein and length of IVC (B) Bivalved specimen demonstrating tumour replacing majority of normal kidney parenchyma with only remnant being 5mm cortex in upper zone. (C) Histopathology demonstrates renal cell carcinoma, papillary type 2 with (D) loss of fumarate hydratase immunostaining. (E and F) Histologically the tumour has uniform appearance, and consists of closely packed bulky papillae, with fibrovascular cores showing variable hyalinization and myxoid change. Composed of large cells, with discrete nucleoli.

Fig. 3
Fig. 3

Representation 11 months post nephrectomy. (A) MRI Brain demonstrates a lobulated T2 hyperintense 23 × 15 × 23mm mass lesion expanding the pituitary, with superior extension displacing the optic chiasm and extension into the left cavernous sinus with encasement of the cavernous and supraclinoid segments of the internal carotid arteries. The mass extended to the left orbital apex and contacted the intracranial portions of the optic nerves bilaterally. Inferiorly it invaded through the pituitary fossa floor into the left sphenoid sinus. (B) PET Scan demonstrated moderate FDG avidity (C, D) Histopathology of resected pituitary mass demonstrates identical morphology to renal mass.

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