Pathology revision notes

If you like !ese notes do show" some love, tag me while using !ese
@medlif"esuscitation
Happy #udying !
 Markers
>
malignant melanoma HMB-U5, Melau A, S-100 also the in sustentacular cells

B ALL CD19, PAX-3, CD10 CD-10 (ALLA Polycythemia Paragangliona

syndrome
1 ALL-CD1, CD2, CDS. CD7 common ALL antigen

myeloid lineage markers: (D13, 33, 117, Mpo

+ NS2+- monocyte

Lymphoid lineage marker: (D19, 20. 10+, PAXS+: CD2, 3, 5, 7 the

Reed Sternberg cells: Classical HL: (D15+, CD30+. PAX5 "more specific

Non Classical HL: CD20+, B11-6+, 2mpt, (BUS +

CD -
41 + CD61+ -

AML MF

CL -

CD19+, CD20+ CD-200 +

CD 5 + (D23+ helps to differentiate (II from mantle cell Lymphoma

Follicular lymphoma: (D19+. CD20+

B((2 + used to differentiate follicular lymphoma from

hyperplasia

Mantle cell lymphoma: (DSt, CD23-, CYlinD

In Cyclin D, negative mcc-Sox-11 best marker

Burkitt's Lymphoma: (D 19+, CD20+, BCL-6+

(BCL:
* CD19 +, CD20 +, BCL6+ Surface 19

marginal zone Amphoma: (D43+

Hairy cell leukemia: (Das, CD1IC, CD103, BBAGY

T RAP the special stain.

Langerman cell histocytosis:langerin, (DIA, S1OO, HLADR, CD207: most important

HLA Al
-

,
138 :
sarcoidosis .

C. Yto keratin ,
1363
,
1340 ( most sensitive a specific marker ] :
SQUAMOUS carcinoma of lung .

TTF -1 ,
NAPSIN A - :
Adenocarcinoma in lung .

Neuron specific enolase

Synaptophysin SCC Of lung

Chromogranin

CD 117 ( C- kit ) most sensitive

DOG -
I most specific 61ST

( D- 34

CEA 4 CA -
19 -9 Hereditary non -
polyposis colon cancer .

'

Alpha Feto Protein

Hep par -1 Hepatocellular carcinoma .

Neurotoxin > Fibroiemellar variant

Glypican -3

(1) 31 ,
VEGF
,
Factor VIII ,
VWF :
Angiosarwma

Urinary catecholamines POLYCYTHEMIA Paragon glioma

Excretion Of vanillin Mandaic acid 2 homovanillyl acid .

Syndrome
 ( D 95 →
Plasma membrane death receptor

CD 62 →
selecting

CD 34 → GIYCAMI On Endothelium Hematopoietic stem cell

CD 29 →
131 Integrin ( VLA
-

4)

( D 18 →
132 Integrin

(D 106 →
YCAMI

(1) 54 → ICAM I

CD 102 →
ICAM II
→
CD 31 PECAN 1

>
CD 16 Receptor for tc fragment of 194 .
NK cells
↓
( D 56 →
NO role produces cytokines IFN Y -

(1) 94 & CD 96 -
inhibiting receptor cytokines required for NK cells proliferation →
11-2 ,
11-5

Markers of B cells : (D 10 [ CALLA ) 19 , 20,21 , 22,23 CD 45 Leukocyte common antigen

Receptor Of EBY
(1) 79A .
194 CD 30 ,
11C
, 13,14 ,
15
,
33,64 MONOCYTE
Pan B cell marker
(1) 79 b. 1913 ( D 13 , 33,117 ,
MPO → MYEIO blast

(1) 40 Of B cells interacts with CD 40L Of T cells

Tcell LYMPHOCYTE : CDI ,

2
,
3,4 , 5,7 ,
8

Pant cell marker

(D -

55 Decay accelerating factor PNH

Plan gene

CD -59 membrane inhibitor of reactive lysis .

( D- 46 proper idin Atypical

-

Hus .

( D- 41T (1) 61 t -

AML MF
 Special looking cells
hand mirror cells
:
ALL

Downey cells Infectious mononucleosis

Ballerina skirt appearance

Arbiskol Cells presence of monocytes in chloro ma

Faggots cells Criss cross pattern of Auer rods cells .

Reed Sternberg in an inflammatory background Hodgkin 's Lymphoma

smudge cells Basket cells parachute cells -

CLL convent girl repetition appearance .

Centrocytes Follicular lymphoma

Centro blast

starry SKY appearance : Burkitt lymphoma

Honeycomb Fried egg appearance :

Hairy cell leukemia Honeycombing of lungs

Oligoaendrogiioma .
↳ Hypersentivity Pneumonitis .

Flower cells clover leaf cells : Adult T cell leukemia / LYMPHOMA

secant cells cere biform nuclei : mycosis fungoides seeeray syndrome

horse -
Shoe shaped nuclei : Anaplastic target cell lymphoma

Flame cell ,
Mott / Morula / Mulberry cells multiple myeloma

Russel body ,
Dutcher body

.me?:.::::::::1
""

pseudo -
Gaucher cells

Staghorn megakryocytes :
Essential thrombOCYTOS.is

Coffee bean appearance in 131713 Langerhans cell histiocytosis

Birbeck granules tennis racquet appearance in EM

also seen in sarcoma

Heart failure cell :
lungs in Lt side heart failure

Gamma gandy bodies :

congestive spleen

A- scoff bodies :

Antis Chow cells caterpillar cells : RHD } Rheumatic fever

Asbestos bodies Ferruginous bodies :

Asbestosis .

Masson bodies :
cryptogenic organising pneumonia Boop
↑ cat ? levels
Asteroid bodies :
↑ level of angiotensin converting enemies
↑ (1) 4 ( D8 ratio
Schawman bodies :
sarcoidosis .
kveim 's test Positive

spherules with organism :

Coccidio mycosis

Ping ball Cup a saucer appearance : Pneumocystis carinii Pneumonia .

Azzopardi effect : salt & Pepper chromatin SCC Of lung .

2 Carcinoid tumor of lung

Electron microscopy :
long slender microvilli or tono filament :
malignant mesothelioma .

Christmas tree appearance Petite Jeghers syndrome

Arborizing pattern Peri oral melanosis ,

muwcutaneous Pigmentation .

Shibata cells :
chronic hepatitis .

Orphan Annie eye nuclei :

papillary carcinoma of thyroid .

LEWY bodies -

Parkinson 's disease

Bunina bodies -
Amyotrophic Lateral sclerosis .

Michaelis -

Gutmann bodies :
Malak oplakia .
Floating septa
barrel shaped chest EPPHYSEMA

flatented diaphragm

submucosal glands
↑
Pink puffers

Globlet cell hyperplasia

mucus gland hypertrophy Chronic bronchitis. chronic inflammatory infiltrate in

Increased Reid Index the respiration epithelium

Basement membrane thickening

papillae with fibrovascular core

Orphan annie eye nuclei Papillary Carcinoma thyroid.

coffee bean nuclei

Nuclear pseudo inclusions

psammoa bodies.

Neuritic plaques

Neurofibrillary tangles Alzheimer's disease

Hirano bodies

Cerebral Amyloid angiopathy

Granular vacouler degeneration

Infectious mononucleosis / kissing disease
CIF

]
EBV affects B lymphocyte Fever Paul Bunnel
+"
Young adult via close contact sore throat mono spot test
splenomegaly
HPE : Downey cells Enlarged L N -
.

Ballerina skirt appearance

Hemophagoctic lymphohistiocytosis /
Anemia t Hepatosplenomegaly

Thrombocytopenia
Macrophages activation syndrome
Abnormal LFTS

↑ triglycerides

↑ ferreting
↑ soluble 11-2 receptor

coagulation abnormalities → DIC

CML t 19:22) Philadephia Chromosome _

Blast count 10 -19% accelerated Phase

> 20 -1 .
basophil ia

Persist ant thrombocytes is > 1000 / in chronic Phase : < 10% blast count

Persist ant Thrombocytopenia Blast crisis : 720-1 .

blast count

massive splenomegaly Extra medullary blast

Proliferation
High TLC

Nonresponsive to therapy

college girl Garden Party

appearance
 Endocarditis '

2-3 Wks after sore throat I Group AB hemolytic streptococci strains :

1. 3. 5.6.18 _

Pt . Of acute fever presents with : mitral regurgitation .

Chronic fever : mitral stenosis

"
"

Revised Jones criteria :

major criteria minor criteria lab Parameters supportive evidence

migratory Polyarthritis Fever ↑ CRP Raised Aso titre

Syndenham 's chorea arthralgia ↑ ESR 1- ve throat swab

Erythema marginal um
-

Prolonged

Pancarditis PR interval

subcutaneous painless nodules

Ascott bodies MCAIIUM Plagues Subendocardial jets .

Anti Schow Caterpillar Cells Fish Mouth Button -

hole stenosis

Bread and butter Pericarditis small ,

warty ,
sterile ,
verrucas vegetation near

the closure line of leaflets .

Infective endocarditis
Oral / dental Procedures ,
Surgery done ,
IV drug users 10C :
Blood Culture

Fever .
Chills
,
Splenomegaly .
large ,
irregular ,
friable .

Roth 's spots .

Osiers nodes [ Painful ] Janeway lesions destructive ,
infected along
,

the line of closure

NBTE Libyan sachs endocarditis

Disseminated cancer SLE Patients

pancreatic cancer sterile small -

medium ,
seen on both
,

AML -
M3 the sides of valve leaflets 4 elsewhere

metastatic cancer more on the undersurface .

Small 11 -4mm ) bland ,

non destructive ,
along

the line of closure

 Cardiomyopathy
Dilated Hypertrophic Restricted
flabby HYPO contracting sudden otherwise unexplained 1 . Loeffler 's endocarditis
HPE :
Ninja star nuclei death in Young athlete eosinophilia

BOX car nuclei HYPER CONTRACTING HEART Can be associated with

mutation in Bannan a split configuration PDGFRB or ✗ abnormality .

Sarwlemma Proteins Helter Skelter arrangement 2 . Endo myocardial fibroelastosis

Titin gene >

microfibre disarray children 2 adults / africans)
mutation of Proteins 3 .
Endocardial fibroelastosis
-

13 myosin heavily chain 1ˢᵗ 2 Yrs of life

myosin binding protein associated with

-

-
MUMPS infection

akotsubo Arrhythmogenic Naxos

cardiomyopathy cardiomyopathy syndrome

Extremely emotional Rt . ventricular Arrhymogenic

Person dysfunction cardiomyopathy

Broken heart synd . AD disorder Hyperkeratosis of

selective left ventricular Plakoglin Desmith Palms 2 Soles

ballooning mutation
l­
I o
so
I → S - ~
f- F-n o +
o A → M I
- s
V § s ¥ - →
$ - s o ≤ →
s ' I < % § t
A → _ • • ~ + e J
, . I.
0 ~ 1- S G T g
a + S S S S •
o s →
+ ?
° +
s 0
-1
§ 5 0 S
s S J
0 -
I e e o _ s n I
~ ↳ & -
3 5
W - - ↳ o →
S O ¥ s •
3 § - = 3 = S
a + + s -
w o s
n a ~ s s I
- o =
5 = °
S n
g- -
• F f
o n p I
CLL
u _ 3
-
e 0 -1 -

i 0 i
o ± .
¥ s
↳
o →
o § 1-
+
s
.
= i
.

~ •

°
.

I 3
¥ -5 8 n -
- o - o
- r
§ s
i e s s
1- a S
I b
S ↳
T 1- a
0 0
1- + - o
I s § o §
_
- O
•
- 5 1- ~
§
. .
M T -
→
e s s o s o
-
w s E - r I
- 1- §
s _
a
Follicular

+ - s ~
o u ng €
↳ → I
_.
• 1-
a .
1- _
I
lymphoma

0 1- O
n o
J

n
3 I
u I
o E
e 1- V '
E 3=8 ¥ -8 . +
V, →
•
§ S
S S S
'
o t S - + - -
+ °
- = § s a
e
s - =
= o
3 I -
e • -
s s
w € + -
-
f •
- - ÷
← I e € I
I ✓
w •
3 • a 3
+ - -
3 =_§ →
~ s →
s 5
→ - § To
•
lymphoma

- -
= . .

i -1 s
Mantle cell

a
s
É, % § i
' '
o g
8 s
- .
.
% 9
~
•
T
F s I + 3
E E s 5- , ¥
U ~
O U T -
§
- I -
- - -
a • § → ~
I s ± .
s
+
§ -
→ @ - §
o - 3 9- d-
g g e 0
≤
= I
s o e ¥
o t
s - -
•
0
To
{
a
§ - .
•
° + I § I
¥ I 0
.
= I -1 § 3 °
.
° in 5
< § 0 g
DLBC

- -
% o → S3 I
- € 3 ☐
-
5 s § .
a o →
o
≈ o n
- E n
E , S T
+
¥ 0 0
. .

d-
I £ § ←
- s
§ o -
-
I J
s g o
n - ± - = =
-
s
◦ _ .
+ '
' ' '
w § § 5 ~
I
S -
o - -
+ - g-
- _ .

°
' s I ☒ I
o § .
5 ± ±
€ ^
.
5 ~ s s
Maltoma

S I. M -
- ~ t
.
§
.
5

s I %
3 =
.
E e E 3 ¥ F
_ ± ≈ F - 5
u 2 ? ? s . ' ' ° •
3 ×
→ m . × -0 A
° s - = -
× s § - %
= s ~
I. -
_
g- . ° I ,
- ~ o
I .
I → +
→ s s <
- _ • s I = <
- s • o
s - § o 3 o
o
o
- → I
- - s o
-0 % s § →
3 +
W g o 0
§ S J o ~ •
-
- s → a _
§ ~ 3 ~
¥ § ↳
I .
& ~
0 I •
≤ .
s s ±
Leukemia

=
Hairy cell

I ,
E § §
- • s s
.
→ £ s o
→ .

G S
É
- . -
I S
~
-
→ s - ? u
-
- I
I → o
% I
g 3 →
f -
× °
§ I € 3 = ~
= '
↳ " s .
0
Is I o
a-
E -
g
+ Is 8
+ . .
- I .
s o §
-
e 5 ~ -
s o + a o
-
É →
- a ° n - •
→ . .
↳
% ¥9 • s e-
-
in
I § § § ~ € ¥ ET E ' '

.
5- -
É - n →
'
e 3 a - - s
- o e I
° ? o s ¥
- s = .
s -

+
E I I 9g = . ≈ gs
°
§ ¥ -1 ± . • 3s It s m
Burkett’s

→ s
r o + - '
- -
so -
s . ¥ I
S S S s £ . .

_ ~ S S
•
I
c- o 3 e
S 3
ɧ
Lymphoma

3 E -
o •
~ s
~ I
8 To
 Nephritic syndrome

.am/. . .m. fm. . . . f. . . . f

PSGN RPGN IgA nephropathy Alport syndrome Thin basement
Membrane disorder
RPGN TYPE -1 GOOD PASTEUR 's aka Berger 's disease ✗ -

linked dominant
SYNDROME aka benign familial
recurrent hematuria a. g chain of collagen
↓ hematuria
Cola coloured Urine defect in a -3 Chain type IV

strep .
Strains ( 12,4 1) ,
Of type 4 collagen ✗ -4 Chain of collagen
ant . lentic onus
type N

Enlarged hyper cellular 75% glomeruli show c resents Mesangial widening 4

glomeruli →
proliferation of leukocytes fibrin IGA deposition in MESANGIUM
, ,

hematuria sensorineural
Neutrophil it infiltrates parietal epithelial cells .
deafness

Endo 2 EXO -

Capillary
Proliferation

µ . ..

dt immune complexes membrane

Granular deposition TYPE -1 : Linear diposts mesangial deposits of 19A ,

(3

causing lumpy -

BUMPY Type -2 :
granular deposits or Proper din .

appearance Type 3 : no deposits

starry SKY appearance

Nephrotic syndrome

f .am/a. . . ./ . . .
Minimal change Membranous Membranoproliferative
FSGS
Disease nephropathy glomerulonephritis
NPHS 2

aka lipoid Nephrosis d- actin int Genetic basis

Nil deposit disease TRPCG

"" "" " " " "" " "" " " "" "" " " " """ " " " " "" " " " " " " "" " " "" " " " "

NO change in glomeruli sclerosis . basement membrane on silver stain -

Glomeruli

SPIKE AND DOME appearance Tram track appearance

Diffuse effacement of Diffuse effacement of PODOCYTE foot sub epithelial Deposits .

TYPE 1 .
-

sub -
endothelial deposits .

"" "" "" " "" """ "" " " " "" " "" "" " "" " " " " ""

PODOCYTOPATHY foot processes

Type T .
Granular deposits
* .. . . . ..*. . . ..

pattern .
 Pneumoconiosis
Coal workers Silicosis Asbestosis
pneumoconioses

manifest in 3 forms : starts with hilar nodule Pleural Plaques

Asymptomatic anthracosis × Pleural CHU Sion

simple coal worker 's Coaiensce to form collage nous scar lung carcinoma
-

coal macules Adenocarcinoma

-

coal nodules Central area of whorled Malignant mesothelioma

◦
Complicated collagen fibres
-

Progressive massive fibrosis Asbestos bodies

Caplan syndrome :
✗ ray :
E. 99 Shell calcification Ferruginous bodies

coal worker t rheumatoid Crazy pavement appearance

arthritis
wiscott Aldrich Syndrome
Eczema
atopic dermatitis

thrombocytopenia Recurrent infections

Micro thrombocytopenia
very few Platetes
Small Platelets

PLUMMER WILSON /
Peterson brown Kelly SYND .

Atrophic glossitis

middle
aged
women

oesophageal webs Fe deficiency anemia

EVANS SYNDROME
CLL t AIHA t thrombocytopenia .
 HAND SCHULIAR CRISTIAN DISEASE
-

Diabetes insipidus

multifocal
LCH

Exopthalmos Bone defects

KASABACH -

MERRIT SYNDROME

Rapidly growing vascular tumor

associated

with DIC

Thrombocytopenia MAHA

FELTY SYNDROME

Rheumatoid arthritis can be associated with

LARGE GRANULAR LYMPHOCYTIC Leukemia

CIF :
Lymphocytosis

splenomegaly

Neutropenia

anemia

splenomegaly Neutropenia
 GIANT CELL ARTERITIS

Head pain

750 Yrs
closely

linked with H4E :

Fragmentation of

POLY myalgia internal elastic lamina

rheumatica

Jaw claudication vision problems

TAKAYASU ARTERITIS
Aortic arch syndrome Pulse less syndrome

loss of Pulse in Upper extremities .

1- asymmetry in B.P .

440 Yrs

Neurologic abnormality visual defects

POIY ARTERITIS NODOSA

HPE :
Fibrinoid necrosis Abdominal Pain most commonly associated with

MONO NEURITIS Muti Plex

kidney can be affected but Glomerulonephritis is not seen .

hematuria Melena

KAWASAKI DISEASE
45 years mi in children
A, Fever t any 4 K loniuctiral redness K Coronary a- involved

cconjuctivitis A cervical adenopathy I Increased Platelet .

R Rash W Vasculitis

E Edema A age < syrs

A Adenopathy s strawberry tongue ,

skin abnormalities
 BUERGER 'S DISEASE

Intermediate claudication

HEP :

HLA -135 neutrophil ic abscess

HLA -1-19

Rest pain can affect a- ,ñ ,

-4 THROMBOANGITISOBHTRANS

WEGNER 'S GRANULOMATOSIS

Otitis media
sinusitis
Upper 2 lower respiratory tract involvement Nasopharyngeal ulcer
cavitation lesions in lung

Hap : Geographical necrosis

may be seen

Focal glomerular nephritis

-

vasculitis kidney involvement Rapid progressive glomerulonephritis

/ /
MICROSCOPIC CHRUG STRAUSS BECHET 'S
POLYANGHIS SYNDROME DISEASE

14h9 Bronchial asthma uveitis

" " """ " " "

Vasculitis

µ.am , a.
a. www.a.a.i.mn, ,
www..am,. .. .

Fragmented neutrophils

segmental .
Fibrinoid necrosis .
Necrotizing granulomas Neutrophil ic vasculitis .

P ANCA tye
-
P ANCA
-
tile HLA -1351 .

HENOCH SCHON LEIN PURPURA

Skin ,
joints ,
911 ,
kidney

19A mediated vasculitis

 KARTAGENER SYNDROME

sinusitis

Infertility also seen

situs inversus Bronchiectasis

HEMOCHROMATOSIS

liver micro nodular cirrhosis

Bronze Pigment Skin Pancreas e DM

WILSON 'S DISEASE

FAHY liver

liver macro nodular cirrhosis

Putamen a Basal ganglia affected sunflower cataract

Neuropsychiatric manifestation CNS EYES Kayser fleischer 's ring

 C’s in
3 C’s
3 pathology
in pathology
BRONCHIAL ASTHMA

lurschmann spirals MUCOUS Plugs 1- eosinophils

Goblet cell hyperplasia

Inflammation t eosinophils

smooth muscle hyperplasia

Charcot laden crystals Creola bodies MUCUS gland hyperplasia

Galectin 10 Protein

PILOCYTIC ASTROCYTOMA

Mk tumor in children

my site
:
cerebellum cystic mural nodule
Mlcroanglopathic hemolytic anemia .

Fever Hass TRIP

MAHA Neurological abnormalities

mostly in TTP

Thrombocytopenia Renal abnormalities

me . in HUS

HORNER 'S SYNDROME

Ptosis

miosis loss of cilio

spinal reflex

Enophthalmos Anhidrosis
 Gene mutation
Adenosine deaminase gene ( ABA )
SCID

RAG gene or JAK 3 gene

STAT 3 gene recruitment of neutrophils

skeletal development HYPER IgE syndrome

wound healing

WASP gene wiswtt Aldrich disorder

ATM gene : ataxia telangiectasia on -11

PIGA gene :
PNH

PAX -5 E2A Or EBF loss of function mutation B- ALL

,

NOTCH Gain of function mutation 7- ALL

NOTCH -
I -

CLL

MLL -

Follicular LYMPHOMA

ALK : Ch -
2P : ALCL

Lung adenocarcinoma

inflammatory myofibroblastic tumors

TAK 211617 F mutation :

polycythemia Vera

Calreticulin

MPL Essential thrombocytosis 3 MYEIO fibrosis

KCNQI 9 KCNHZ :
loss of function mutation :
10h9 Q1 syndrome

Gain of function mutation :

short Qt syndrome

P53 ,
Rb ,
CDkN2A ,
SCC Of lung

loss of Ch 3P -

,
9P ,
1713

EGFR ,
Alk ,
MET ,
RET ,
KRAS :
Adenocarcinoma of lung .
Migratory thrombophlebitis .

Produce Max .

P53 ,
Rb ,
L MYC
- : SCC Of lung .
Cushing syndrome ,
SIADH MIC Paraneoplastic syndrome

P53 .
SY -40 virus : malignant mesothelioma .
mutation in Will Pathway, APC, PS3: Intestinal Gastric adenocarcinoma

CDH1 mutation Diffuse Gastric adenocarcinoma

mutation of c-kit, PDGF-RA, SDH gene. GIST

↓( (1:18), (1:18), (17:187 MALTOMa

SMADA gene mutation: Juvenile Polyposis syndrome

LBK1/STK11 loss of function Peutz Jegners syndrome

↑ TEN gene mutation on Ch-10 Cowden syndrome

APC gene on Ch-5p Familial adenomatous Polyposis.

ATPEB gene on Ch139: Wilson disease.

RST, NF-1: I growth factor receptor signaling Pheochromocytoma.

YHL, SDH-B, C, D: P activity Of HF-1a3 HF-2&

APP (Amyloid precursor protein) on ch-21 Alzheimer's disease

psI on ch-14
early onset
ps On Ch-1

APOE-+ On ch-19 late onset

(15 CD23

# + CLL

+ -

Mantle cell lymphoma

Marginal
-

lymphoma
-

zone

CD38 + 138 + 56+ multiple myeloma

Syndecan 1+ (Yclin D, t
 Stk 11 Pleutz Segner syndrome

PATCH 40min syndrome

clear cell Rec

cerebellar hemangioma .

adenomatous polyposis
Familial
colon cancer

42 Wilms tumor

BRCA 2 -13 Breast 8 ovarian

carcinoma
Breast ( male)
.

Prostate

Neuro fibroma
optic ñ glioma
pheochromocytoma .

Schwan noma .

PTEN
-

10 -

Endometrial 2 Prostate ca .

CDHI -

HE cadherin
-

tubular carcinoma of breast 2 Gastric adenocarcinoma

 Ch -
1 . RH gene of blood grouping is present .

Ch -
19 -
DM I \.
Dystrophic myotonia

Ch Diaz
Is chromosome
-

3 me i ✗9

FGFR-3 Achondroplasia
MC ISO chromosome in cancer
Fibroblast growth factor receptor -3

I 179 .

Ch G - -
Fed rich 's ataxia
ABO blood grouping
MC isochromose in testicular
gene is present
FBN 1 gene Marfan syndrome
tumor : i 129 .

Ch -
22 -
Merlin Neurofibromatosis - 2

Ch -
17 -
heurotibromin -
Neurofibromatosis -1

Ch -

15 -

Prader wiki syndrome SNORP gene

15911 FBI gene ( fibril / in 1)
Angel man syndrome UBE3A gene

Ch -
2 -
ALK gene → ALCL anaplastic large cell lymphoma

Inflammatory myotibroblastic tumor .

Lung adenocarcinoma .

Ch -

lo →
RET →
gain of function :
medullary carcinoma of thyroid .

MEN 11 Syndrome

loss of function :
Hirschsprung disease .

Ch 13914
→
↑ risk Of retinoblastoma and osteosarcoma .
RB (ISG )
lfp
→
P53 Li Fraumeni
→
Ch syndrome -
Bone cancer Blood Ca .

Clenkenria t sarcomas tons tumor ) Breast ca . Brain ca .

( DGP → HLA gene located . HPE gene :

Hemochromatosis .
.

Ch -

Il →
ATM gene Ataxia telangiectasia

Ch 11 - →
Hb 13 chain gene

th -

16 → Hb ✗ chain gene .

Ch -14 →
a -1 antitrypsin deficiency

Ch -5 > Gene for ATOPY .

Trisomy 13 Patan syndrome

trisomy 18 Edward syndrome

Trisomy 22 Cat eye syndrome

del 229911.2 Diaeorge Syndrome

del sp Cri -
du -
chat syndrome . Cat Cry syndrome

Chromosome 12 -

Noonan syndrome .
RAS MAPK Pathway

del 59 -

adult MDs

MONOSOMOY 7 children
-

MDs
t ( 8:14 ) >
Burkitt 's lymphoma

( 11:14 ) →
mantle cell lymphoma [ Overexpression Of Cyclin Dl ]
→
(yÉnD ,
IgG

44 :④ ↑
→
bet 2

t ( 8:21) : AML Ma

t ( 15:17 ) : AML m3

t ( 16:16 ) : AML M4

deletion

Trisomy
of

of
139 ,

129,
,
119 . .
HP
) CLL

t ( 14:18 ) : Follicular lymphoma

t ( 11:14 ) :
mantle cell lymphoma _
Multiple myeloma M c
/
t ( 18:14 ) :
Burkitt 's LYMPHOMA

-112 8) : Can be associated

t( 8:22) with EBY

t ( 14:18 )

Myc translocation Diffuse large B Cell lymphoma

Dysregulation of Bu -6

t ( 11:18 ) ( 14:18 ) ( 1:14 ) marginal Zone lymphoma .

del 139

t ( 11:14) Mutiple myeloma .

translocation 149,

t ( 9:22 ) : CML
210 kDa
 AR AD ✗R XD
-
LAD I 2 I •
Hyper IgE Syndrome .
Chronic granulomatous

•
Chediak Hegashi syndrome
.
Familial amyloid otic - -
Bruton agammaglobuiinemia

-
SCID Polyneuropathy '
SCID

-
-
Familial Mediterranean Hereditary spherocytosis
-
Hyper 19M syndrome

fever
•
Von Willebrand disease '
Wi Scott Aldrich syndrome

-
Sickle
•
cell anemia Haemophilia

Thalassemia
•

"

Bernard Soulier synd .

Hemochromatosis
•

Wilson disease
•
LYMPH Oerythroblastic Myelopthisic anemia

MYEIO fibrosis

mediastinal invasion T All

-

Hodgkin 's lymphoma

cystic medial degeneration : Marfan 's syndrome