Cp Text Only Cytogenetics And Tumor Syndromes

Front 1

Hereditary nonpolyposis colorectal carcinoma (HNPCC, Lynch syndrome)

Back 1

Defective mismatch repair is a cause of microsatellite instability (MSI)

Lynch syndrome I (colon cancer)
Lynch syndrome II (colon, endometrial, and ovarian cancer).

Additional tumors
small intestinal adenocarcinoma
pancreaticobiliary adenocarcinoma
gastric adenocarcinoma
urothelial carcinoma



Gene Symbol Chromosomal Locus
MLH1 3p21.3
MSH2 2p22
MSH6 2p16
PMS2 7p22

Front 2

Muir-Torre

Back 2

HNPCC-Related syndrome

sebaceous neoplasms and colon cancer

Front 3

Turcot

Back 3

HNPCC-Related syndrome

brain tumors (GBM and Medulloblastoma) and colon cancer

Front 4

Familial Adenomatous Polyposis (FAP)

Back 4

carpeting of the colon with hundreds of adenomatous
polyps by age 20

colon adenocarcinoma by age 50

gastric polyps (fundic gland polyps)

APC 5q

small intestinal polyps (adenomas)

slightly increased risk of small bowel adenocarcinoma, ampullary adenocarcinoma, thyroid cancer, and desmoids.

Front 5

von Hippel-Lindau disease

Back 5

vHL 3p

hemangioblastomas (cerebellar, cerebral, or retinal)

pheochromocytoma

renal cell carcinoma (clear cell type)

pancreatic cysts

islet cell tumors

cystadenomas (epididymal, ovarian)

tumors of the endolymphatic sac of the inner ear.

Front 6

Tuberous Sclerosis

Back 6

TSC1 gene (9q34—hamartin protein)
TSC2 gene (16p13.3—tuberin protein)

angiofibromas (adenoma sebaceum)

periungual fibromas

shagreen patches (collagenomas)

hypopigmented macules (ash leaf macule)

cardiac rhabdomyomas

pulmonary lymphangioleiomyomatosis (LAM)

subependymal giant cell astrocytomas (SEGA)

renal angiomyolipomas (AML)

Front 7

BRCA1 and BRCA2

Back 7

BRCA1 17q

BRCA2 13q

premenopausal breast cancer

epithelial ovarian malignancy

increased risk of cancer in the pancreas, uterus, and prostate.

Front 8

Multiple Endocrine Neoplasia Type 1 (MEN1)

Back 8

MEN1 11q13 protein menin

parathyroid adenomas

pituitary adenomas

pancreatic islet cell tumors


facial angiofibromas, collagenomas, lipomas, and meningiomas.

Front 9

Multiple Endocrine Neoplasia Type 2 (MEN2, Sipple syndrome)

Back 9

RET gene 10q

MEN 2A

medullary thyroid carcinoma
pheochromocytoma
parathyroid adenoma

MEN 2B

medullary thyroid carcinoma
pheochromocytoma
ganglioneuromatous intestinal polyps
mucosal neuromas
Marfanoid body habitus

familial medullary thyroid carcinoma - FMTC
medullary thyroid carcinoma

Front 10

Carney Complex

Back 10

PRKAR1A gene 17q24
(LAMB syndrome, NAME syndrome)

Cutaneous lentigines (simple lentigos)
Blue nevi (cellular and epithelioid)
Cardiac myxomas
Myxomas in breast, female genital tract, and skin (especially on the eyelid and external ear)
follicular adenomas of the thyroid, pituitary adenomas (GH-secreting) primary pigmented nodular adrenocortical disease (PPNAD) of the adrenal gland
Psammomatous melanotic schwannoma

Front 11

Carney Triad

Back 11

gastric GIST

pulmonary chondroma

extra-adrenal paraganglioma

Front 12

Cowden Syndrome

Back 12

PTEN gene 10q23

Hamartomatous intestinal polyps
multiple lipomas
fibromas
GU malformations
facial trichilemmomas
skin papillomas
palmoplantar keratoses
palmoplantar hyperkeratotic pits
cerebellar dysplastic gangliocytoma (Lhermitte-Duclos)

increased risk of malignancy, especially of the breast, thyroid (follicular carcinoma), colon, and endometrium.

Front 13

Bannayan-Riley-Ruvalcaba syndrome

Back 13

PTEN gene 10q23

high birth weight with macrocephaly, mental retardation, myopathy, joint hypermobility, pectus excavatum, scoliosis,

hamartomatous intestinal polyps
lipomas
pigmented macules of the glans penis

Front 14

Proteus syndrome

Back 14

PTEN gene 10q23

connective tissue nevi (considered pathognomonic), asymmetric limb growth, skull hyperostosis, megaspondylodysplasia of the vertebrae, or visceral overgrowth (especially spleen and thymus).

Front 15

Juvenile Polyposis

Back 15

SMAD4 18q21.1
BMPR1A 10q22.3

juvenile polyps in the stomach, small and large intestine
increased risk of gastrointestinal malignancy

Front 16

Peutz-Jeghers Syndrome (PJS)

Back 16

STK11 19p

mucocutaneous pigmentation mouth, eyes, nostrils, perianal area, and sometimes the fingers
specific type of hamartomatous polyp
sex cord tumor with annular tubules (SCTAT) of the ovaries and adenoma malignum of the cervix.
calcifying Sertoli cell tumors of the testes

Front 17

Birt-Hogg-Dubé Syndrome

Back 17

BHD gene 17p11.2—encoding folliculin

fibrofolliculomas
pneumothorax
renal tumors (cromophobe)

Front 18

Neurofibromatosis Type 1 (von Recklinghausen disease, NF1)

Back 18

NF1 gene 17q11.2—encoding neurofibromin

multiple café au lait spots and intertriginous (groin, axilla) freckling
Neurofibromas - less common plexiform neurofibroma is considered pathognomonic
Ocular Lisch nodules

Front 19

Neurofibromatosis Type 2 (bilateral acoustic neuromas, NF2)

Back 19

NF2 gene 22q—encodes merlin

bilateral vestibular nerve (not acoustic nerve) schwannomas
meningiomas, ependymomas, and astrocytomas
posterior subcapsular lens opacitie

Front 20

Li–Fraumeni syndrome

Back 20

TP53 gene 17q

sarcoma, cancers of the breast, brain and adrenal glands

Front 21

Conventional clear cell renal cell carcinoma

Back 21

3p14, 3p25.3 (the location of the vHL gene), and 3p21.3.

del (3p)

anomalies at
14q (higher stage and a worse prognosis)
9p (higher stage and a worse prognosis)
8p
6q

Front 22

Papillary renal cell carcinomas

Back 22

loss of the Y chromosome (in males)

trisomy of
7p
17p
12
16.

Front 23

Chromophobe carcinomas

Back 23

multiple anomalies (mainly losses) of

Y 1, 2, 6, 10, 13, 17, and 21.

Front 24

Renal carcinomas associated with Xp11.2 translocations

Back 24

t(X;1)
t(X;17) ASPL–TFE3

PRCC-TFE3

Front 25

alveolar soft part sarcoma (ASPS)

Back 25

t(X;17) ASPL–TFE3

Front 26

Her-2/neu (c-erbB-2)

Back 26

chromosome 17

Front 27

oligodendrogliomas

Back 27

loss of 9p21 (p16/CDKN2A) and losses involving chromosome 10 (PTEN/DMBT1)

Front 28

Retinoblastoma

Back 28

RB1 chromosome 13q14

Individuals with germline RB1 mutations are at increased risk of developing tumors outside the eye, including: pineal gland tumors, PNET, and osteosarcomas.

Front 29

Meningioma

Back 29

Monosomy of chromosome 22 - 22q12.2 where the NF2 gene deletion - merlin

anaplastic meningiomas show frequent losses of (eg, 1p, 9p, and others) as well as gains (eg, 1q, 9q, and others).

Front 30

Ewing/PNET

Back 30

t(11;22)(q24;q12) EWS-FLI
type 1 fusion associated with a relatively favorable prognosis

t(21;22) EWS-ERG

rarely a t(7;22) or t(17;22).

Front 31

Intra-abdominal desmoplastic small round cell tumor (IADSRCT)

Back 31

t(11;22)(p13;q12) EWS-WT1

Front 32

Clear cell sarcoma (malignant melanoma of soft parts)

Back 32

t(12;22)(q13;q12) EWS-ATF1

Front 33

Neuroblastoma

Back 33

Amplification of the MYCN proto-oncogene is found in 20%–30% of neuroblastomas and is a marker of aggressive clinical behavior. Abnormalities of 17q23-qter are present in >50% of cases, deletion of 1p36 is present in 30%–40%, and deletion of 11q23 in 40%–50%

Front 34

WAGR syndrome

Back 34

Large germline 11p13 deletion that encompasses the PAX6 gene (causing aniridia)
WT1 is a tumor suppressor gene located at 11p13

Wilms tumor, aniridia, genitourinary anomalies, retardation

Front 35

Denys-Drash syndrome.

Back 35

Germline mutations in WT1

Front 36

Wilms tumor

Back 36

Sporadic Wilms tumors have WT1 mutations, but in almost all such cases, these are present only in tumor tissue (somatic mutations).

Front 37

Beckwith-Wiedemann syndrome

Back 37

Germline mutations in WT2 11p15.5
High birth weight, macroglossia, organomegaly, hemihypertrophy (asymmetric growth), neonatal hypoglycemia
Anterior ear creases or pits, abdominal wall defects, adrenocortical cytomegaly, and renal anomalies (renal medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly). In utero there is polyhydramnios, a long umbilical cord, an enlarged placenta, and often a premature delivery

Embryonal tumors, especially Wilms tumor and hepatoblastoma

Front 38

Rhabdomyosarcoma

Back 38

Alveolar rhabdomyosarcoma

t(2;13)(q35;q14) PAX3-FKHR

RARELY t(1;13)(p36;q14) PAX7-FKHR

Front 39

Synovial sarcoma

Back 39

t(X;18)(p11;q11) SYT-SSX1 (biphasic histology) SYT-SSX2 (monophasic histology)

Front 40

M2 AML good prognosis

Back 40

t(8;21)(q22;q22) ETO-AML1

Front 41

M4 AML good prognosis

Back 41

inv(16)/t(16;16) CBFB-MYH1

Front 42

APML intermediate/good prognosis

Back 42

t(15;17)(q22;q21) PML-RARalpha

Variant AMPL: t(11;17)(q23;q21) PLZF-RARalpha poor response to ATRA

Front 43

AML post-topoisomerase therapy

Back 43

11q23 MLL rearrangments
Bad prognosis

Front 44

Infantile AML-M7

Back 44

t(1;22)(p13;q13) OTT-MAL

Front 45

Good prognosis MDS Elderly women with macrocytic anemia with thrombocytosis

Back 45

5q -

Front 46

Clonal prognosis in CML

Back 46

Extra t(9;22)

+ 8
+19
i(17q)
del(9q)

Front 47

Good prognosis for B-ALL

Back 47

Hyperploidy > 54 chromosomes

t(12;21)

Front 48

Bad prognosis for B-ALL

Back 48

t(4;11)(q21;q23) MLL rearrangements

t(1;19)

t(9;22)

Front 49

Burkitt lymphoma

Back 49

t(8;14) MYC-IGH

t(8;22) MYC-Ig lambda

t(2;8) MYC-Ig kappa

Front 50

Follicular lymphoma

Back 50

t(14;18)(q23;q21) BCL2-IGH

Front 51

Mantle Cell Lymphoma

Back 51

t(11;14)(q13;q32) BCL1-IGH

Front 52

MALT Stomach

Back 52

t(11;18)(q21;q21) MALT-API2

Front 53

Myeloma Good prognosis

Back 53

Hyperdiploidy

t(11;14)(q13;q32) CCNDI-IGH

Front 54

Myeloma Bad Prognosis

Back 54

t(8;14)
t(4;14)
t(14;16)
17p13.1 deletion

del13q14 (intermediate)

Front 55

ALCL - Good prognosis

Back 55

t(2;5)(p23;q35) ALK-NPM

Front 56

Neuroblastoma

Back 56

del(1p)
+17

Front 57

DFSP/Giant cell fibroblastoma

Back 57

t(17;22) COL1A-PDGF

Front 58

Infantile fibrosarcoma/congenital mesoblastic nephroma

Back 58

t(12;15) ETV6-NTRK3
+11
+17
+20

Front 59

Myxoid chondrosarcoma

Back 59

t(9;22) CHN-EWS

Front 60

Liposarcoma (myxoid/round cell)

Back 60

t(12;16) FUS-CHOP