Oncology Flashcards
t(1:19)
pre B ALL
t(8:14)
C-MYC - Burkitts
t(15:17)
Acute promyelocytic leukaemia
t(9:22)
Philadelphia - ALL, CML (POOR prognosis)
t(11:22)
Ewing’s
t(12:21)
ALL (GOOD prognosis)
t(11q:22)
Wilms
N MYC
Neuroblastoma (poor prognosis)
EGFR
Glioblastoma
1p
AML
10q (RET)
MEN2
INI1 deltion
Atypical teratoid rhabdoid tumour (ATRT)
15q mutation
Blood
p53 mutation
Soft tissue sarcoma/Li Fraumeni
11p deletion (WT1)
Wilms/WAGR
13q deletion (RB1)
Retinoblastoma
GATA1
AML in T21
RB2 Retinoblastoma
(2 hit Chr13) Osteosarcoma
p53 Li Fraumeni Syndrome
Bone, soft tissue, breast
NF1 Neurofibromatosis 1
Optic glioma, brain glioma, meningioma, neurofibroma, phaechromocytoma, sarcoma
NF2 Neurofibromatosis 2
Bilateral acoustic neuroma
WT1 Wilms, WAGR
Wilms, aniridia (no irs), genitourinary abnormalities, mental retardation)
Von Hippel Lindau
Renal cell carcinoma, phaeochromocytoma, pancreatic tumour
PTEN
Glioblastoma
INI1
Atypical Teratoid Rhabdoid Tumour (ATRT)
APC
Hepatoblastoma
MEN1
Pancreas, pituitary, parathyroid tumours
MEN 2A + 2B - RET
Phaechromocytoma, parathyroid adenoma, medullary thyroid carcinoma
Trisomy 21
Transient leukamoid reaction in newborn 10%
ALL increased risk 20%
AML increased risk 400%
Klinfelter syndrome (47XXY)
Breast cancer
Noonan Syndrome
Juvenile myelomonocytic leukaemia
Beckwith Weiderman/hemi-hypertrophy
Wilm’s tumour, hepatoblastoma
Fanconi anaemia
Leukaemia (especially AML)
Ataxia-telangectasia
Lymphoma, leukaemia
DiGeorge
Thymoma
Severe Combined Immunodeficiency
Leukaemia, lymphoma
Wiskott-Aldrich
Non-Hodgkin’s Lymphoma, leukaemia
X Linked agammaglobulinaemia
Lymphoma, leukaemia
X Linked lymphoproliferative
Non-Hodgkin’s Lymphoma
Ataxia telangiectasia
Non-Hodgkin’s Lymphoma
Tuberous sclerosis
Myocardial rhabdomyoma, giant cell astrocytoma
MEN1 (multiple endocrine neoplasia syndrome)
Parathyroid, pancreatic islet, Pituitary
MEN2A
Thyroid, phaeochromocytoma
Familial Adenomatous Polyposis
Colorectal, thyroid, duodenal, hepatoblastoma
Haemochromatosis
Hepatocellular
BRCA1 BRCA2
Breast, ovarian
Diamond-Blackfan anaemia
AML, meylodysplastic syndrome
Schwachman Diamond
AML, myelodysplasia
Hodkins Lymphoma
Adolescence
4x risk post EBV
Painless node, mediastinal mass, B symptoms, hepatosplenomegaly, Reed-Sternberg
Chemo + RTX
Highest risk secondaryy cancer (lung M+F, breast F)
Non-Hodgkins lymphoma
Age 10 More common, rapidly growing, better prognosis Horners* T cell - mediastinal mass B cell - abode distension High LDH poor prognosis Risk of tumour lysis Chemotherapy
Neuroblastoma
Infants <2yo
Adrenal, paraspinal (mets to bone, orbit, liver, skin)
Presentation: sick, abdominal mass - crosses midline, Horners, Mets - Racoon eyes
Paraneoplastic - opsoclonus myoclonus
High urine catecholamines (HVA, MVA), ferritin, LFH
Resection, chemo +/- RTX, autologous SCT
Stage 4s - <1y hepatomegaly, disseminated, regresses
Wilms (nephroblastoma)
2-3yo Well, abdominal mass doesn't cross midline Assoc BWS/HH, WAGR, Denys Drash Surgery Chemo +/- RTX
Retinoblastoma
Familial
<1yo - Bilateral, worse
Sporadic >1yo, unilateral
White reflex, strabismus
Mets to optic nerve, orbit
Late risk: osteosarcoma
Langerhan Cell Histiocytosis
5-10yo Birbeck cells Skin blueberry rash Skull- punched out holes Single system/multifocal/multisystem - wrose Chemo
HLH
Fever, lymph, hepatosplenomegaly, jaundice
Ferritin high (prognostic >10000), sCD25, high triglycerides, haemophagocytosis film/marrow
Dex, IVIG, chemo, BMT
Hepatoblastoma
<180mo RUQ mass, previous puberty
High HCG/AFP
Surgery/chemo/transplant
Associated with BWS/HH, FAP, FAS
Germ cell tumour
3yo/adol
Gonads
RF: 47XXY, T21, 45XO, high AFP/HCG
Rhabdomyosarcoma
<6yo head/neck/orbit
Assoc NF, LF, BWS
Surgery/chemo/RTX
Medulloblastoma
Good - WNT, SHH
Bad - MYC +
Wilms
Bad - loss of 16q or 1p
Neuroblastoma
Good - hyperploid
Bad - nMYC amplification, 1p loss, 17q gain, diploid or triploid, high markers (LDH, ferritin)
ALL
Good - hyperploid, WCC
<50, response to treatment, 1-10yo*
Bad - WCC >50, hypoploidy, t(4,11), 11q23
Very Bad - t(9,22)*, failure of induction, t(8,14), Burkitt
AML
Good - low MRD at 2nd end point, t(15,17), APML very responsive to treatment
Bad - MLL rearrangements, monosomy 7
Cysplatin
Severe nausea + vomiting
SNHL
Nephrotoxicity
Carboplatin
SNHL, nephrotoxicity
Bleomycin
Pulmonary fibrosis, mucositis
Bulsulphan
Pulmonary fibrosis, seizures
Doxyrubicin
Cardiotoxicity, myelosuppression, stomatitis, red pee
Cyclophosphamide
Haemorrhagic cystitis
Infertility
Secondary malignancy (AML)
Itopaside/Ifosfamide
Haemorrhagic cystitis
Infertility
Secondary malignancy
(Fanconi, encephalopathy - ifosfamide)
Methotrexate
Myelosuppression
Mucositis
Liver/renal damage
CI in pericarditis
6MP (mercaptopurine)
Myelosuppression
Hypoglycaemia
Vincristine
Jaw pain
Peripheral neuropathy
SIADH
Asparginase
Anaphylaxis
Pancreatitis
Coagulopathy
DM
Etoposide
Myelosuppression Secondary malignancy (AML)
Actinomycin
VOD (Wilm’s tumour)
Secondary malignancy
Cyclophosphamide
Itopaside/ifosfamide
Severe/delayed nausea
Cysplatin
Infertility
Cyclophosphamide
RTA/Fanconi anaemia
Ifosfamide
Jaw pain
Vincristine
Haematuria
Cyclophosphamide, ifosfamide
Encephalopathy
Ifosfamide
Cardiotoxity
Doxyrubicin
Red pee
Doxyrubicin
Shortness of breath
Bleomycin
Mucositis
Methotrexate (combination treatment -ubicin)
Myelosuppression
Dose dependent
Pancreatitis
Asparginase
Allergy/anaphylaxis
Aspariginase
Radiation recall/avoid in radiation
Doxyrubicin, actinomycin
Fungal infections
Prolonged neutropenia