Difference between revisions of "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.<ref name=omim136850>{{OMIM|136850}}</ref><ref>{{OMIM|150800}}</ref>
'''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.<ref name=omim136850>{{OMIM|136850}}</ref><ref name=omim150800>{{OMIM|150800}}</ref>


HLRCC is classically described as:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref>
HLRCC is classically described as:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref>

Revision as of 04:07, 27 October 2014

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][2]

HLRCC is classically described as:[3]

General

  • Autosomal dominant inheritance[4] with variable penetration.[5]

Clinical:

  • Leiomyomas seen in almost all patients.
    • Manifestation: skin rash.[6]
  • The associated renal cell carcinoma is often aggressive and significant cause of mortality.[7]

Microscopic

Features - renal cell carcinoma:[7]

  • Large eosinophilic nucleolus with perinucleolar clearing - proposed hallmark - important.
    • May be focal.
  • Variable architecture:
    • Papillary - classic description.
      • Hyaline material within the fibrovascular cores.
    • Tubulopapillary.
    • Tubular.
    • Solid.
    • Sieve-like pattern/cribriform.

Notes:

DDx:

Images

www:

IHC

  • FH -ve.
  • 2SC +ve -- cytoplasmic,[5] cytoplasmic and nuclear.[7]
    • 2SC = S-(2-succino)-cysteine.

Others:

See also

References

  1. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 136850
  2. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 150800
  3. ↑ 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.
  4. ↑ 4.0 4.1 4.2 4.3 4.4 4.5 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.
  5. ↑ 5.0 5.1 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.
  6. ↑ Toon, CW.; Hasovits, C.; Paik, J.; Field, M.; Chou, A.; Hugh, TJ.; Pavlakis, N.; Gill, AJ. (Jul 2014). "Skin rash, a kidney mass and a family mystery dating back to World War II.". Med J Aust 201 (1): 58-60. PMID 24999901.
  7. ↑ 7.0 7.1 7.2 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.
  8. ↑ 8.0 8.1 Launonen, V.; Vierimaa, O.; Kiuru, M.; Isola, J.; Roth, S.; Pukkala, E.; Sistonen, P.; Herva, R. et al. (Mar 2001). "Inherited susceptibility to uterine leiomyomas and renal cell cancer.". Proc Natl Acad Sci U S A 98 (6): 3387-92. doi:10.1073/pnas.051633798. PMID 11248088.
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