Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma

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Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma
Diagnosis in short

Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma showing the characteristic hyalinized papillary cores. H&E stain. (WC/Nephron)
LM large eosinophilic nucleolus with perinucleolar clearing (may be focal), variable architecture: papillary (classic description) +/-hyaline material within the fibrovascular cores (characteristic), tubulopapillary, tubular, solid, sieve-like pattern/cribriform
LM DDx papillary renal cell carcinoma (type 2), tubulocystic carcinoma of the kidney, collecting duct carcinoma, renal medullary carcinoma
IHC FH -ve, 2SC +ve, CK7 -ve, TFE3 -ve, CK20 -ve, CD10 -ve, UEA-1 -ve
Molecular FH mutation
Grossing notes total nephrectomy for tumour grossing, partial nephrectomy grossing
Staging kidney cancer staging
Site kidney - see kidney tumours
Associated Dx uterine leiomyomas (women), skin leiomyomas
Syndromes hereditary leiomyomatosis and renal cell carcinoma syndrome
Clinical history +/-family history of kidney cancer
Signs +/-skin rash
Prevalence rare
Prognosis poor
Clin. DDx other kidney tumours
Treatment resection

Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma is a malignant epithelial tumour of the kidney associated with the hereditary leiomyomatosis and renal cell carcinoma syndrome.

General

  • Often aggressive - significant cause of mortality.[1]

Microscopic

Features - renal cell carcinoma:[1]

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

Notes:

DDx:

Images

RCC

  • HLRCC - low mag. (WC)

  • HLRCC - intermed mag. (WC)

  • HLRCC - high mag. (WC)

  • HLRCC - high mag. (WC)

  • HLRCC - very high mag. (WC)

  • HLRCC - very high mag. (WC)

  • HLRCC - TC-like - low mag.

  • HLRCC - TC-like - intermed mag.

  • HLRCC - TC-like - high mag.

  • HLRCC - TC-like - very high mag.

www

IHC

  • Fumarate hydratase (FH) -ve.
  • 2SC +ve -- cytoplasmic,[4] cytoplasmic and nuclear.[1]
    • 2SC = S-(2-succino)-cysteine.

Others:

See also

References

  1. ↑ 1.0 1.1 1.2 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.
  2. ↑ 2.0 2.1 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.
  3. ↑ Pithukpakorn, M.; Wei, MH.; Toure, O.; Steinbach, PJ.; Glenn, GM.; Zbar, B.; Linehan, WM.; Toro, JR. (Sep 2006). "Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.". J Med Genet 43 (9): 755-62. doi:10.1136/jmg.2006.041087. PMID 16597677.
  4. ↑ 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. ↑ 5.0 5.1 5.2 5.3 5.4 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.
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