Chediak-Higashi - albanism - immunodeficiency +-bleeding, neuro degeneration giant lysosomes in granulocytes

Cytogenetics/Mutations Flashcards by Kyle Mendonça

t(12;21)

ETV6-RUNX1

Favourable cyto B-ALL

How well did you know this?

Not at all

Perfectly

t(9;22)

BCR-ABL
Philadelphia Chromosome

Ph+ ALL, CML

How well did you know this?

Not at all

Perfectly

t(17;19)

TCF3-HLF
very rare (<1%) B-ALL, very unfavourable
DIC and HyperCa

How well did you know this?

Not at all

Perfectly

t(4;11)
t(11;19)

KMT2A-MLLT2 (50%)
KMT2A-MLLT2 (20%)

How well did you know this?

Not at all

Perfectly

t(15;17)

PML-RARA
APML

How well did you know this?

Not at all

Perfectly

t(8;21)

AML1-ETO (RUNX1-RUNX1T1)
AML favourable

How well did you know this?

Not at all

Perfectly

CBFA2T3-GLIS2

RAM phenotype AML

How well did you know this?

Not at all

Perfectly

FVL mutation

G1691A (APC resistance)

How well did you know this?

Not at all

Perfectly

Prothrombin gene mutation

G20210A

How well did you know this?

Not at all

Perfectly

Dx?
ankyrin, Band 3, b spectrin

HS (aut dom)

How well did you know this?

Not at all

Perfectly

Dx?
a spectrin, protein 4.2

HS (aut rec)

How well did you know this?

Not at all

Perfectly

Dx?
Spectrin or band 4.1

HE
aut dom
horizontal interactions

How well did you know this?

Not at all

Perfectly

Dx?
stomatin or band 7.2 mutations

overhydrated hereditary stomatocytosis
aut dom

How well did you know this?

Not at all

Perfectly

Dx?
PIEZO1 or KCNN4

Xerocytosis (hereditary stomatocytosis)
aut dom

How well did you know this?

Not at all

Perfectly

Dx?
PIG-A gene (GP1 protein)

PNH

How well did you know this?

Not at all

Perfectly

Dx?
TMPRSS6 mutation

IRIDA (iron refractory IDA)
hepcidin upregulation

How well did you know this?

Not at all

Perfectly

t(12;15)

ETV-NTRK3
congenital mesoblastic nephroma
larotrectinib

How well did you know this?

Not at all

Perfectly

ETV-NTRK3

t(12;15)
congenital mesoblastic nephroma
larotrectinib

How well did you know this?

Not at all

Perfectly

LOH 1p and 16q

WT poor px features

How well did you know this?

Not at all

Perfectly

HAX1

Kostmann disease (congenital neutropenia)

How well did you know this?

Not at all

Perfectly

LYST (CHS1 gene)

Chediak-Higashi

albanism
immunodeficiency
+-bleeding, neuro degeneration

giant lysosomes in granulocytes

How well did you know this?

Not at all

Perfectly

WAS gain of function

X linked neutropenia

How well did you know this?

Not at all

Perfectly

CXCR4 mutation

WHIM: warts, hypogammaglobulinemia, infections, myelokathexis (retention of myeloid cells in bone marrow)

How well did you know this?

Not at all

Perfectly

ELANE

severe congenital neutropenia
cyclic neutropenia

How well did you know this?

Not at all

Perfectly

t(8;14) t(2;8) t(8;22)

Burkitt Lymphoma MYC amplification

Burkitt lymphoma translocations

t(8;14) -80% t(2;8) - 15% t(8;22) - 5%

t(2;5) t(1;2)

ALK-NPM ALK-TPM3 ALCL

ALCL

t(2;5) ALK-NPM t(1;2) ALK-TPM3

GpIb-IX-V = CD42

Bernard Soulier Syndrome

GpIIb-IIIa = CD41

Glanzmann's thrombasthenia

CSF3R

GCSF receptor Primary neutrophilia

MHY9 mutation

May Hegglin anomaly inherited macrothrombocytopenias Dohle bodies renal failure, SNHL, cataracts

GATA1 mutation

TMD X linked macrothrombocytopenia

NBEAL2 mutation

Gray Platelet syndrome

RBM8A mutation

TAR

c-MPL mutation

thrombopoietin receptor CAMT

HOXA-11

RUSAT congenital thrombocytopenia

GLUT-1

infantile hemangioma 20% of angiosarcoma

PIK3CA

lymphatic anomalies PIK3CA-related overgrowth spectrum (PROS)

RECQL4

Rothmund-Thompson Osteosarcoma predisposition

t(11;22) t(21;22)

Ewing Sarcoma t(11;22) EWSR1-FLI1 (90%) t(21;22) EWSR1-FUS

EWS translocations

Ewing Sarcoma t(11;22) EWSR1-FLI1 (90%) t(21;22) EWSR1-FUS Desmoplastic small round cell tumor t(11;22) EWSR1-WT1 Clear Cell Sarcoma of soft tissue t(12;22) EWS-ATF1 EWSR1-CREB1 Angiomatoid fibrous histiocytoma EWSR1-CREB1 EWSR1-ATF1

t(2;13) t(1;13)

ARMS t(2;13) PAX3-FOXO1 60% t(1;13) PAX7-FOXO1 20%

t(X;17)

ASPSCR1-TFE3 alveolar soft part sarcoma

SMARCB1

malignant rhabdoid tumor epithelioid sarcoma ATRT

t(X;18)

SS18-SSX1 / 2 / 4 Synovial sarcoma

t(12;15)

ETV6-NTRK3 Congenital fibrosarcoma

t(2;19)

TPM4-ALK inflammatory myofibroblastic tumor

t(1;3)

WWTR1-CAMTA1 epithelioid hemangioendothelioma

ETV6-NTRK3 fusion

infantile fibrosarcoma congenital mesoblastic nephroma NTRK-rearranged spindle cell neoplasm breast cancer RT induced papillary thyroid carcinoma

isochrome 12p

GCT type 2 (gonadal, AYA)

DCLRE1C

Artemis T-B-NK+ SCID

BTK mutation

(bruton tyrosine kinase) XLA

SH2D1A mutation

XLP1 SAP protein

BIRC4 mutation

XLP2

CHS1 mutation

Chediak Higashi

STAT3 or DOCK8 deficiency

hyper IgE syndrome

CD40L deficiency

hyper IgM syndrome X linked

BRAF-KIAA1549 fusion

pilocytic astrocytoma also V600E

BRAF mutations seen in:

pilocytic astrocytoma (BRAF-KIAA1549 and V600E) craniopharyngioma LCH (V600E) LGG HGG (GBM) plexiform neurofibroma Melanoma (V600E)

H3K27 mutation H3K27me3

DIPG HGG

IDH1 mutation

HGG

small round blue cell DDx

LEARN NMR: lymphoma Ewing ALL RMS NBl Neuroepithelioma Medullo retinoblastoma ATRT pineoblastoma ETMRE (embryonal tumor with multilayered rosettes)

loss of INI-1

SMARCB1 mutation malignant rhabdoid tumor epithelioid sarcoma ATRT

t(8;22) vs t(9;22)

t(8;22) Burkitt (8-B) t(9;22) Ph (9:P)

t(Y;14)

IGH-CRLF2 Ph-like

MYC locus

8q24

B immunophenotype

CD10: common ALL Ag CD19 CD20 (mature) CD 22 CD79a CD45 (hematopoetic) Immature: HLA-DR, CD34

T immunophenotype

CD 2-8 CD10 (common ALL Ag) CD45 (hematopoetic) Immature: CD1a, CD99

Myeloid immunophenotype

CD13, 15, MPO Lysozyme CD45 (hematopoetic) Immature: CD117

t(5;14)

IL3-IGH eosinophilic B-ALL

Eosinophilic B-ALL mutation

t(5;14) IL3-IGH

Ph-like classes

ABL-like CRLF2-r (JAK) Ras activating

T-ALL immunophenotype and common mutations

+ CD34, 10, TdT - HLA-DR TCR-r del9p (CDKN2A) NOTCH activating

ETP T-ALL immunophenotype

+ HLA-DR (compare to T-ALL), CD 34, 117, TdT - CD 1, 5, 8, 10 (compare to T-ALL)

APML immunophenotype

+ bright CD33, intense MPO - CD 10, 34 (not hypogranular subtype), HLA-DR (not hypogranular subtype)

HLA-DR negative leukemias

T-ALL (not ETP) AMKL APML (not hypogranular variant) RAM phenotype