Which if the following RCC subtype is known to be associated with mutation in MET gene ie a protoncogene
[A] Clear cell RCC
[B] Papillary RCC
[C] Chromophobe RCC
[D] Oncocytoma
Answer = [B] Papillary RCC (Sternberg’s Diagnostic Surgical Pathology, 5th Edition)
Papillary carcinoma represent around 10-15% of renal carcinomas (Note >> MC RCC subtype is Clear cell RCC)
Cytogenetic abnormalities seen in Papillary RCC are [1] Spoardic = Trisomies 7 and 17 and loss of Y [2] Familial Forms = Trisomy 7
Familial forms are due to mutated MET gene on chromosome. Note that MET is mutated in less than 10% of sporadic type papillary renal cancers. (See Below)
Hereditary papillary renal cell carcinoma (HPRCC) — Autosomal Dominant
Presents as Multifocal, bilateral type | papillary renal cell carcinomas. MET protoncogen mutation located on 7q31 is associated with HPRCC.
Hot shot >> Renal cell carcinoma
MC type of RCC = Clear cell RCC
MC type which develops in dialysis associated cystic disease = Papillary RCC
RCC subtype exclusively associated with sickle cell trait = Medullary cell carcinoma
Best prognosis RCC subtype = Chromophobe carcinoma (Note Carcinoma has been asked — Oncoytoma has better prognosis than Chromophobe however they are considered benign)
Familial Renal Cell Carcinoma (RCC) Syndromes
Syndrome Genetics Manifestations
Von Hippel Lindau VHL gene (ch 3p25-26) Clear cell RCC Hemangioblastoma CNS Retinal Angiomas Pheochromocytoma
Hereditary papillary renal c-MET protooncogene (7q31) Type 1 papillary RCC cell carcinoma
Familial leiomyomatosis and | Fumarate hydratase (ch1q42) Type 2 papillary RCC
RCC Cutaneous leiomyomas Uterine leiomyomas
Birt-Hogg-Dubé BHD1 gene (ch 17p12q11) Chromophobe RCC Oncocytoma
Transitional tumors Occasional clear cell RCC Cutaneous fibrofolliculomas Lung cysts
Spontaneous pneumothorax
Which if the following RCC subtype is known to be associated with mutation in MET gene ie a protoncogene
[A] Clear cell RCC
[B] Papillary RCC
[C] Chromophobe RCC
[D] Oncocytoma
Answer = [B] Papillary RCC (Sternberg’s Diagnostic Surgical Pathology, 5th Edition)
Papillary carcinoma represent around 10-15% of renal carcinomas (Note >> MC RCC subtype is Clear cell RCC)
Cytogenetic abnormalities seen in Papillary RCC are [1] Spoardic = Trisomies 7 and 17 and loss of Y [2] Familial Forms = Trisomy 7
Familial forms are due to mutated MET gene on chromosome. Note that MET is mutated in less than 10% of sporadic type papillary renal cancers. (See Below)
Hereditary papillary renal cell carcinoma (HPRCC) — Autosomal Dominant
Presents as Multifocal, bilateral type | papillary renal cell carcinomas. MET protoncogen mutation located on 7q31 is associated with HPRCC.
Hot shot >> Renal cell carcinoma
MC type of RCC = Clear cell RCC
MC type which develops in dialysis associated cystic disease = Papillary RCC
RCC subtype exclusively associated with sickle cell trait = Medullary cell carcinoma
Best prognosis RCC subtype = Chromophobe carcinoma (Note Carcinoma has been asked — Oncoytoma has better prognosis than Chromophobe however they are considered benign)
Familial Renal Cell Carcinoma (RCC) Syndromes
Syndrome Genetics Manifestations
Von Hippel Lindau VHL gene (ch 3p25-26) Clear cell RCC Hemangioblastoma CNS Retinal Angiomas Pheochromocytoma
Hereditary papillary renal c-MET protooncogene (7q31) Type 1 papillary RCC cell carcinoma
Familial leiomyomatosis and | Fumarate hydratase (ch1q42) Type 2 papillary RCC
RCC Cutaneous leiomyomas Uterine leiomyomas
Birt-Hogg-Dubé BHD1 gene (ch 17p12q11) Chromophobe RCC Oncocytoma
Transitional tumors Occasional clear cell RCC Cutaneous fibrofolliculomas Lung cysts
Spontaneous pneumothorax