Uncommon tumours Flashcards
Pleuropulmonary blastoma
DICER1
Male breast cancer (n=4)
BRCA2 (>BRCA1)
XXY
PALB2
CHEK2
Osteochondromyxoma
PRKAR1A (Carney Complex)
Angiofibromas (n=3)
- FLCN (Birt Hogg Dube)
- TSC
- MEN1
Cardiac myxoma
PRKAR1A (Carney Complex)
Malignant peripheral nerve sheath tumour
NF1
Cribriform-morular variant of papillary thyroid cancer
APC (FAP)
Parotid oncocytoma
FLCN (Birt Hogg Dube)
Bronchoalveolar carcinoma
TP53 (Li-Fraumeni Syndrome)
Subependymal giant cell astrocytoma (SEGA)
TSC
Cystic nephroma
DICER1
Adrenocortical carcinoma
TP53 (Li-Fraumeni Syndrome)
Clear-cell meningioma
SMARCE1
Ameloblastoma (a.k.a. malignant transformation of keratocyst)
(Gorlin Syndrome)
Signet ring carcinoma (a.k.a. diffuse gastric cancer)
CDH1 (Hereditary Diffuse Gastric Cancer Syndrome)
Glomus tumour
SDHx genes (Hereditary Paraganglioma-Pheochromocytoma Syndromes)
NF1
Juvenile myelomonocytic leukemia (JMML)
(RASopathies including NF1)
Multiple papillary cystadenomas of the epididymis or broad ligament
VHL
Oncocytoma / chromophobe renal cell carcinoma
FLCN (BHD)
Mucosal neuromas of lips/tongue
RET (MEN2B)
Hepatoblastoma (n=5)
APC Beckwith-Wiedemann syndrome Hemihypertrophy Simpson-Golabi Behmel Trisomy 18
Choroid plexus carcinoma
TP53 (Li-Fraumeni Syndrome)
Early-onset astrocytoma
MSH3
Botryoid rhabdomyosarcoma of the cervix
DICER1
Optic glioma
NF1
Lobular breast cancer
CDH1 (Hereditary Diffuse Gastric Cancer Syndrome)
Lymphangioleiomyomatosis
TSC
Adenoma malignum of the cervix
STK11 (PJS)
Gestational choriocarcinoma (in mother)
Fetus + father with TP53 variant
Malignant phyllodes tumour
TP53 (Li-Fraumeni Syndrome)
Pineoblastoma (n=2)
DICER1
RB1
Small cell carcinoma of the ovary, hypercalcemic type
SMARCA4
Bilateral vestibular schwannomas (a.k.a. acoustic neuromas)
NF2
Linitis plastica
CDH1 (Hereditary Diffuse Gastric Cancer Syndrome)
Ciliary body medulloepithelioma
DICER1
Primary pigmented nodular adrenocortical disease
PRKAR1A (Carney Complex)
Large calcifying Sertoli cell tumours (n=2)
STK11 (PJS)
PRKAR1A (Carney Complex)
Medulloblastoma (a.k.a. primitive neuroectodermal tumour) (n=4)
SUFU (Gorlin Syndrome; SUFU > PTCH1) if SHH subgroup
TP53 (Li-Fraumeni Syndrome) if SHH subgroup and/or chromothripsis
APC (FAP) if WNT subgroup
BRCA2 and PALB2 (Fanconi anemia) if non-WNT subgroup / group 3
Multifocal micronodular pneumocyte hyperplasia
TSC
Atypical teratoid rhabdoid tumour (ATRT)
SMARCB1
Hypodiploid ALL (in childhood)
TP53 (Li-Fraumeni Syndrome)
Angiomyolipoma
TSC
Hyperparathyroidism + ossifying fibromas of the jaw
CDC73
Retinoblastoma
RB1
Transitional carcinomas of the ureter and renal pelvis
(Lynch Syndrome)
Pheochromocytoma
SDHx genes ( Hereditary Paraganglioma-Pheochromocytoma Syndromes) RET (MEN2) VHL (type 2) NF1 MAX TMEM127
Pituitary blastoma
DICER1
Schwannomatosis
SMARCB1
Cerebellar dysplastic gangliocytoma (a.k.a. Lhermitte-Duclos disease)
PTEN
Psammomatous melanotic schwannoma
PRKAR1A (Carney Complex)
Anaplastic rhabdomyosarcoma
TP53 (Li-Fraumeni Syndrome)
Wilms tumour (n=8)
WT1 (WAGR, Denys-Drash, Frasier, isolated) Hemihypertrophy Beckwith-Wiedemann syndrome Bohring-Opitz Mulibrey nanism Perlman Simpson-Golabi Behmel Trisomy 18
Gastrointestinal stromal tumour (GIST) (n=4)
PRKAR1A (Carney Complex)
SDHx genes ( Hereditary Paraganglioma-Pheochromocytoma Syndromes)
SHDx genes (Carney-Stratakis Syndrome)
NF1
Neuroblastoma / Ganglioneuroblastoma / Ganglioneuroma (n=2)
ALK
PHOX2B
Nasal chondromesenchymal hamartoma
DICER1
Acute megakaryocytic leukemia
Trisomy 21
Pancreatic neuroendocrine tumour
VHL
Gastric adenocarcinoma and proximal polyposis of stomach (GAPPS)
APC (but not FAP)
Juvenile xanthogranuloma
NF1
Endolymphatic sac tumour
VHL
Hemangioblastoma
VHL
Bilateral ovarian cystadenomas
Proteus
Parotid monomorphic adenoma
Proteus
Hereditary papillary renal cell cancer
MET