Tristan Rutland
@tristanrutland.bsky.social
Medical educator, medical doctor/anatomical pathologist at Liverpool hospital and lecturer at Western Sydney University.
Summary
Why this matters: Recognizing these features can aid in early diagnosis, especially in patients with a family history or symptoms suggestive of HLRCC.
Why this matters: Recognizing these features can aid in early diagnosis, especially in patients with a family history or symptoms suggestive of HLRCC.
December 17, 2024 at 11:27 PM
Summary
Why this matters: Recognizing these features can aid in early diagnosis, especially in patients with a family history or symptoms suggestive of HLRCC.
Why this matters: Recognizing these features can aid in early diagnosis, especially in patients with a family history or symptoms suggestive of HLRCC.
5/ Histological Features of FHD RCC:
🌴 Papillary, tubular, or solid patterns (occasionally nests).
🔴 Eosinophilic nucleoli resembling inclusions.
⭕ Perinuclear halos.
Image of primary renal tumour in case below
🌴 Papillary, tubular, or solid patterns (occasionally nests).
🔴 Eosinophilic nucleoli resembling inclusions.
⭕ Perinuclear halos.
Image of primary renal tumour in case below
December 17, 2024 at 11:27 PM
5/ Histological Features of FHD RCC:
🌴 Papillary, tubular, or solid patterns (occasionally nests).
🔴 Eosinophilic nucleoli resembling inclusions.
⭕ Perinuclear halos.
Image of primary renal tumour in case below
🌴 Papillary, tubular, or solid patterns (occasionally nests).
🔴 Eosinophilic nucleoli resembling inclusions.
⭕ Perinuclear halos.
Image of primary renal tumour in case below
4/ The Role of Fumarate Hydratase (FH):
FH is part of the The Citric Acid cycle (TCA), crucial for ATP production.
When mutated or lost (as seen on IHC), fumarate accumulates, creating a pseudo-hypoxic state.
This triggers transcription factors that suppress apoptosis and drive proliferation.
FH is part of the The Citric Acid cycle (TCA), crucial for ATP production.
When mutated or lost (as seen on IHC), fumarate accumulates, creating a pseudo-hypoxic state.
This triggers transcription factors that suppress apoptosis and drive proliferation.
December 17, 2024 at 11:27 PM
4/ The Role of Fumarate Hydratase (FH):
FH is part of the The Citric Acid cycle (TCA), crucial for ATP production.
When mutated or lost (as seen on IHC), fumarate accumulates, creating a pseudo-hypoxic state.
This triggers transcription factors that suppress apoptosis and drive proliferation.
FH is part of the The Citric Acid cycle (TCA), crucial for ATP production.
When mutated or lost (as seen on IHC), fumarate accumulates, creating a pseudo-hypoxic state.
This triggers transcription factors that suppress apoptosis and drive proliferation.
3b/
⚠️ NB: In patients with HLRCC, the uterine leiomyomas have a distinct appearance, cutaneous leiomyomas do not ⚠️ .
Sadly, 15-30% of patients with HLRCC will develop this aggressive RCC.
Cutaneous FHD leiomyoma below
⚠️ NB: In patients with HLRCC, the uterine leiomyomas have a distinct appearance, cutaneous leiomyomas do not ⚠️ .
Sadly, 15-30% of patients with HLRCC will develop this aggressive RCC.
Cutaneous FHD leiomyoma below
December 17, 2024 at 11:27 PM
3b/
⚠️ NB: In patients with HLRCC, the uterine leiomyomas have a distinct appearance, cutaneous leiomyomas do not ⚠️ .
Sadly, 15-30% of patients with HLRCC will develop this aggressive RCC.
Cutaneous FHD leiomyoma below
⚠️ NB: In patients with HLRCC, the uterine leiomyomas have a distinct appearance, cutaneous leiomyomas do not ⚠️ .
Sadly, 15-30% of patients with HLRCC will develop this aggressive RCC.
Cutaneous FHD leiomyoma below
3a/ Genetic Link:
Associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Leiomyomas are a hallmark:
Uterine leiomyomas: seen in nearly 100% of women with this syndrome.
Cutaneous leiomyomas: occur in ~75% of patients.
pubmed.ncbi.nlm.nih.gov/26574848/
Associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Leiomyomas are a hallmark:
Uterine leiomyomas: seen in nearly 100% of women with this syndrome.
Cutaneous leiomyomas: occur in ~75% of patients.
pubmed.ncbi.nlm.nih.gov/26574848/
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings - PubMed
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome secondary to germline fumarate hydratase (FH) mutation presents with cutaneous and uterine leiomyomas, and a distinctive aggressive ...
pubmed.ncbi.nlm.nih.gov
December 17, 2024 at 11:27 PM
3a/ Genetic Link:
Associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Leiomyomas are a hallmark:
Uterine leiomyomas: seen in nearly 100% of women with this syndrome.
Cutaneous leiomyomas: occur in ~75% of patients.
pubmed.ncbi.nlm.nih.gov/26574848/
Associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Leiomyomas are a hallmark:
Uterine leiomyomas: seen in nearly 100% of women with this syndrome.
Cutaneous leiomyomas: occur in ~75% of patients.
pubmed.ncbi.nlm.nih.gov/26574848/
1/ Demographics:
Commonly affects individuals aged ~30-40 years.
Current data suggests equal risk across genders (M = F).
2/ Other Associated Tumours/Lesions:
🔴 Steroid cell tumours, including Leydig cell tumours
🩸 Phaeochromocytomas
⭕ Adrenal nodular hyperplasia
pubmed.ncbi.nlm.nih.gov/12772087/
Commonly affects individuals aged ~30-40 years.
Current data suggests equal risk across genders (M = F).
2/ Other Associated Tumours/Lesions:
🔴 Steroid cell tumours, including Leydig cell tumours
🩸 Phaeochromocytomas
⭕ Adrenal nodular hyperplasia
pubmed.ncbi.nlm.nih.gov/12772087/
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America - PubMed
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cancer. Although the identification ...
pubmed.ncbi.nlm.nih.gov
December 17, 2024 at 11:27 PM
1/ Demographics:
Commonly affects individuals aged ~30-40 years.
Current data suggests equal risk across genders (M = F).
2/ Other Associated Tumours/Lesions:
🔴 Steroid cell tumours, including Leydig cell tumours
🩸 Phaeochromocytomas
⭕ Adrenal nodular hyperplasia
pubmed.ncbi.nlm.nih.gov/12772087/
Commonly affects individuals aged ~30-40 years.
Current data suggests equal risk across genders (M = F).
2/ Other Associated Tumours/Lesions:
🔴 Steroid cell tumours, including Leydig cell tumours
🩸 Phaeochromocytomas
⭕ Adrenal nodular hyperplasia
pubmed.ncbi.nlm.nih.gov/12772087/