Saturday Morning Sem inar: The Case of a Kidney w ith a Strange - - PowerPoint PPT Presentation

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Saturday Morning Sem inar: The Case of a Kidney w ith a Strange - - PowerPoint PPT Presentation

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Saturday Morning Sem inar: The Case of a Kidney w ith a Strange Constellation of Histologic Findings 66 th Annual Meeting California Society of Pathologists San Francisco, CA 12/ 4/ 2013 Jesse K McKenney, MD Director, Surgical Pathology

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Saturday Morning Sem inar: The Case of a Kidney w ith a Strange Constellation of Histologic Findings

Jesse K McKenney, MD Director, Surgical Pathology

66th Annual Meeting California Society of Pathologists San Francisco, CA 12/ 4/ 2013

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  • 44 year old woman with left renal

mass on CT (3 cm)

  • Prior history of right sided RCC
  • Underwent partial nephrectomy

Clinical Scenario

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3 cm Renal Mass

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3 cm Renal Mass

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3 cm Renal Mass

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3 cm Renal Mass

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3 cm Renal Mass

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3 cm Renal Mass

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  • Will it help?

Immunohistochemistry

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PAX-8 Renal Cell Carcinoma? Unclassified?

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Background Kidney- Incidental Lesions

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Background Kidney- Incidental Lesions

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PAX-8 HMB45

Positive in Spindle Cells Positive in Epithelial Cells

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Angiomyolipoma with Epithelial Cysts

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Renal Cell Carcinoma, Unclassified + Prior RCC?? + AMLEC

Is there a connection?

Cystic, Eosinophilic, Hobnail Subtype? Specificity?

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Prior Contralateral RCC…….Suptype?

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Prior Contralateral RCC…….Subtype?

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Prior Contralateral RCC…....Subtype?

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xxxxx Prior Contralateral RCC…….Subtype?

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Prior Contralateral RCC…….Subtype? CK7

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Renal Cell Carcinoma with Associated Smooth Muscle Stroma

  • r

Renal Angioadenomyomatous Tumor (RAT)

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Martignoni G et al. Renal cell carcinoma with smooth muscle stroma lacks chromosome 3p and VHL alterations. Modern Pathol 2013 Nov 8 [Epub ahead of print]

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Prior Contralateral Nephrectomy Adjacent Spindle Cells?

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Background kidney in prior resection?

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Background kidney in prior resection?

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RCC, Unclassified + AMLEC + RCC with features of RAT + AMLEC + Young onset in female + Background kidney cysts with atypia

Emerging Picture?

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History of Tuberous Sclerosis?

Emerging Picture?

YES

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Tuberous Sclerosis: Neoplasia

  • Skin Angiofibromas
  • Renal Angiomyolipoma (AML)
  • Multiple, bilateral, may involve other organs
  • Other PEComa spectrum tumors
  • Lymphangioleiomyomatosis
  • Cardiac rhabdomyoma
  • Retinal hamartoma
  • Subependymal giant cell astrocytoma (SEGA)
  • Other renal tumors
  • RCC- case reports
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3 cm Renal Mass

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Int J Surg Pathol 2010; 18: 409-418

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Diagnosis: RCC, Unclassified (Not a pattern in WHO) Associated with Tuberous Sclerosis

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No Increased Risk over General Population

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HMB-45

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RCC: Eosinophilic and Cystic

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RCC: Chromophobe?

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  • Younger age at presentation
  • Multiple RCCs common
  • Associated AML common (often AMLEC)
  • Renal tubular atypia common
  • Renal cysts common

RCC Associated with Tuberous Sclerosis: A Clinicopathologic Study of 16 Patients with 28 Total Tumors

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RCC Associated with Tuberous Sclerosis: A Clinicopathologic Study of 16 Patients with 28 Total Tumors

  • RCC Morphology

– 40-50%: RAT-like pattern (smooth muscle stroma) – 30-40%: Chromophobe-like – 15-20%: Eosinophilic….cystic and hobnail

  • AML in 93% (AMLEC in 20%)

– Microscopic tumorlets common

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Eosinophilic with cysts: 40-50%

RCC AML

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Clear cells with smooth muscle stroma: 40-50%

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Clear cells with smooth muscle stroma: 40-50%

CK7

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Chromophobe-Like: 30-40%

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Chromophobe-Like: 30-40%

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Chromophobe-Like: 30-40%

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Eosinophilic with cysts: 40-50%

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Eosinophilic with cysts: 40-50% Solid Foci

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AMLEC-like foci: 20%

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AMLEC-like foci: 20%

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Microscopic AML Tumorlets

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Microscopic AML Tumorlets

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Cysts with Cytoplasmic Eosinophilia

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Cysts with Cytoplasmic Eosinophilia

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Tubular Atypia

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Tubular Atypia

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The Syndromes

  • von Hippel-Lindau
  • Hereditary Papillary RCC
  • Hereditary Leiomyomatosis-RCC
  • Birt-Hogg-Dubé
  • Tuberous Sclerosis
  • RCC Associated with Germline SDHB mutation
  • Other very rare examples…..
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Hereditary Leiomyomatosis RCC (HLRCC)

  • Spectrum of neoplasia

–Leiomyomas of skin and uterus

  • Most patients develop cutaneous

leiomyomas

  • Early hysterectomy for myomas

–Renal carcinomas

  • Often solitary and unilateral
  • Low penetrance (20-35%)
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Renal Cell Carcinoma in HLRCC

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Renal Cell Carcinoma in HLRCC

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Renal Cell Carcinoma in HLRCC: Perinucleolar Halo

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Birt-Hogg-Dubé Syndrome

  • Renal tumors (15-27%)
  • Cutaneous lesions

– Fibrofolliculoma – Trichodiscoma – Acrochordon

  • Spontaneous pneumothorax
  • Colorectal neoplasia
  • Medullary thyroid carcinoma
  • Lipomas
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HOT

Birt-Hogg-Dubé Associated Renal Neoplasm

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Birt-Hogg-Dubé Associated Renal Neoplasm

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Birt-Hogg-Dubé Associated Oncocytosis

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Birt-Hogg-Dubé Associated Oncocytosis

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Birt-Hogg-Dubé Associated Renal Neoplasm

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Birt-Hogg-Dubé Associated Renal Neoplasm

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SDH Mutant RCC

  • Families with hereditary paraganglioma

syndrome occasionally have members with RCC

– Type 4: Germline SDHB mutations (PGL4)

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SDH Mutant RCC: Solid

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SDH Mutant RCC: Cystic

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SDH Mutant RCC: Inclusions

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SDH Mutant RCC: Inclusions

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SDH Mutant RCC SDHB Courtesy of: Dr. Anthony Gill , Royal North Shore, Sydney

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Summary

  • Surgical pathologists play a role in the

identification of hereditary neoplasia syndromes

  • Increased recognition of less clinically

apparent forms of many syndromes

  • Utilize a comment discussing the possibility
  • f hereditary syndrome
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Summary

  • Tuberous Sclerosis
  • RCCs have some characteristic

clinicopathologic features

  • Background tubular atypia with cystic change
  • Angiomyolipomas (may have epithelial cysts)
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Jesse K McKenney, MD Director, Surgical Pathology Cleveland Clinic