Hereditary leiomyomatosis and renal cell carcinoma syndrome

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Hereditary leiomyomatosis and renal cell carcinoma (abbreviated HLRCC), also hereditary leiomyomatosis and renal cell cancer, is an uncommon syndrome caused by fumarate hydratase (FH) gene mutations.[1]

General

  • Autosomal dominant inheritance[2] with variable penetration.[3]

HLRCC is classically described as:[4]

Clinical:

  • Leiomyomas seen in almost all patients.
  • The associated renal cell carcinoma is often aggressive and significant cause of mortality.[5]

Microscopic

Features:[5]

  • Large eosinophilic nucleolus with perinucleolar clearing - proposed hallmark - important.
    • May be focal.
  • Variable architecture:
    • Papillary - classic description.
    • Tubulopapillary.
    • Tubular.
    • Solid.

DDx:

IHC

  • 2SC +ve -- cytoplasmic,[3] cytoplasmic and nuclear.[5]
    • 2SC = S-(2-succino)-cysteine.

See also

References

  1. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 136850
  2. ↑ Merino, MJ.; Torres-Cabala, C.; Pinto, P.; Linehan, WM. (Oct 2007). "The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.". Am J Surg Pathol 31 (10): 1578-85. doi:10.1097/PAS.0b013e31804375b8. PMID 17895761.
  3. ↑ 3.0 3.1 Reyes, C.; Karamurzin, Y.; Frizzell, N.; Garg, K.; Nonaka, D.; Chen, YB.; Soslow, RA. (Jul 2014). "Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.". Mod Pathol 27 (7): 1020-7. doi:10.1038/modpathol.2013.215. PMID 24309325.
  4. ↑ Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 290. ISBN 978-0781765275.
  5. ↑ 5.0 5.1 5.2 Chen, YB.; Brannon, AR.; Toubaji, A.; Dudas, ME.; Won, HH.; Al-Ahmadie, HA.; Fine, SW.; Gopalan, A. et al. (May 2014). "Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.". Am J Surg Pathol 38 (5): 627-37. doi:10.1097/PAS.0000000000000163. PMID 24441663.
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