Difference between revisions of "Hereditary leiomyomatosis and renal cell carcinoma syndrome"

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**Solid.
**Solid.
**Sieve-like pattern/cribriform.
**Sieve-like pattern/cribriform.
Notes:
*Not common: [[psammoma bodies]], foamy macrophages.<ref name=pmid11248088>{{Cite journal  | last1 = Launonen | first1 = V. | last2 = Vierimaa | first2 = O. | last3 = Kiuru | first3 = M. | last4 = Isola | first4 = J. | last5 = Roth | first5 = S. | last6 = Pukkala | first6 = E. | last7 = Sistonen | first7 = P. | last8 = Herva | first8 = R. | last9 = Aaltonen | first9 = LA. | title = Inherited susceptibility to uterine leiomyomas and renal cell cancer. | journal = Proc Natl Acad Sci U S A | volume = 98 | issue = 6 | pages = 3387-92 | month = Mar | year = 2001 | doi = 10.1073/pnas.051633798 | PMID = 11248088 }}</ref>


DDx:
DDx:
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*[[Collecting duct carcinoma]].
*[[Collecting duct carcinoma]].
*[[Renal medullary carcinoma]] - cells also have a prominent nucleolus.
*[[Renal medullary carcinoma]] - cells also have a prominent nucleolus.
===Images===
www:
*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC30663/figure/F3/ RCC in HLRCC (nih.gov)].<ref name=pmid11248088/>


==IHC==
==IHC==

Revision as of 03:53, 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]

HLRCC is classically described as:[2]

General

  • Autosomal dominant inheritance[3] with variable penetration.[4]

Clinical:

  • Leiomyomas seen in almost all patients.
    • Manifestation: skin rash.[5]
  • The associated renal cell carcinoma is often aggressive and significant cause of mortality.[6]

Microscopic

Features - renal cell carcinoma:[6]

  • 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,[4] cytoplasmic and nuclear.[6]
    • 2SC = S-(2-succino)-cysteine.

Others:

See also

References

  1. Online 'Mendelian Inheritance in Man' (OMIM) 136850
  2. 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.
  3. 3.0 3.1 3.2 3.3 3.4 3.5 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.
  4. 4.0 4.1 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.
  5. 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.
  6. 6.0 6.1 6.2 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.
  7. 7.0 7.1 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.