Surgery Specimens - Table Viva Guide

1. TRICHOBEZOAR (Hair Ball)

Trichobezoar of the stomach - Bailey & Love's Surgery, Fig. 67.34

What is it?

Causes

• Trichotillomania (compulsive hair-pulling) followed by trichophagia (eating hair) - an obsessive-compulsive spectrum disorder
• Virtually exclusively found in young female psychiatric patients
• Associated with DSM-5 obsessive-compulsive and related disorders

Types of Bezoars (Know the Full List)

Rapunzel Syndrome

Clinical Features / Complications

• Epigastric mass (palpable)
• Abdominal pain and nausea
• Weight loss, anorexia
• Gastric ulceration and GI bleeding
• Gastric outlet obstruction
• Perforation (rare)
• If Rapunzel syndrome: small bowel obstruction

Diagnosis

• Endoscopy - gold standard, easiest diagnosis
• CT abdomen - shows heterogeneous intraluminal mass with gas pockets (mottled appearance)
• Plain X-ray - may show soft tissue mass with gas lucencies
• USG - echogenic mass with dirty shadowing

Treatment

1. Endoscopic removal - first attempt; Coca-Cola dissolution sometimes used for phytobezoars
2. Surgical removal (laparotomy/gastrotomy) - for large/complicated trichobezoars; required in most cases
3. Psychiatric management and follow-up to prevent recurrence (address trichotillomania/trichophagia)

Possible Viva Questions

• Q: What is Rapunzel syndrome? A: Extension of trichobezoar from stomach into small intestine up to the ileocecal valve.
• Q: Who is typically affected? A: Young female psychiatric patients with trichotillomania/trichophagia.
• Q: What is the diagnosis of choice? A: Upper GI endoscopy.
• Q: What is the treatment? A: Endoscopic removal; if large - open gastrotomy. Must address the underlying psychiatric disorder.
• Q: What complications can occur? A: Ulceration, bleeding, perforation, obstruction, Rapunzel syndrome.

2. POLYCYSTIC KIDNEY DISEASE (PCKD/ADPKD)

What is it?

Types

Causes / Genetics

• PKD1 mutation (chromosome 16p13.3) - encodes polycystin-1; causes ~78% of ADPKD cases
• PKD2 mutation (chromosome 4q21) - encodes polycystin-2; milder course
• "Two-hit hypothesis" - germline mutation + somatic second hit causes individual cyst formation
• PKD1 mutations: more severe, ESRD ~10 years earlier than PKD2

Risk Factors for ESRD Progression

• Early age of presentation
• Hypertension
• Male sex
• PKD1 gene type (vs PKD2)
• African ethnic group

Gross Pathology (Specimen Description)

• Hugely enlarged kidneys bilaterally
• Replaced almost entirely by multiple cysts of varying sizes (mm to several cm)
• Cysts contain clear, straw-colored or brown fluid (if bleeding has occurred)
• Some residual compressed normal parenchyma between cysts
• Normal reniform shape may be preserved but grossly distorted

Extrarenal Manifestations

• Liver cysts (most common extrarenal, ~80% of patients)
• Intracranial (berry) aneurysms - 10-30% of patients; risk of subarachnoid hemorrhage - most feared complication
• Pancreatic cysts
• Mitral valve prolapse
• Arachnoid membrane cysts
• Seminal vesicle cysts

Clinical Features

• Usually presents after age 30 (often 4th-5th decade)
• Bilateral flank masses - often first sign
• Haematuria (gross or microscopic)
• Abdominal/flank pain
• Hypertension (most patients >20 years are hypertensive)
• Recurrent UTI, pyelonephritis
• Renal stones
• Progression to ESRD (~50% by age 60 with PKD1)

Diagnosis

• Ultrasound - investigation of choice for screening; bilateral enlarged kidneys with multiple cysts (Unified Ravine/Pei criteria based on age and number of cysts)
• CT scan - more sensitive, can detect smaller cysts
• MRI - most sensitive; used for total kidney volume measurement (TKV) to predict progression
• Genetic testing - PKD1/PKD2 mutation analysis (useful for young family members/potential donors)
• Urinalysis - haematuria, proteinuria
• Renal function tests - rising creatinine

Treatment

• Hypertension control - ACE inhibitors/ARBs (most important; delays progression)
• Tolvaptan (vasopressin V2 receptor antagonist) - slows cyst growth and decline in renal function (FDA approved); monitor for hepatotoxicity
• Somatostatin analogues and mTOR inhibitors - under investigation
• Treat UTI aggressively
• Pain management
• Screen for and treat intracranial aneurysms (if symptomatic/large)
• Renal replacement therapy - dialysis or renal transplantation for ESRD

Possible Viva Questions

• Q: What genes are mutated in ADPKD? A: PKD1 (chromosome 16) and PKD2 (chromosome 4).
• Q: Most common extrarenal manifestation? A: Hepatic cysts.
• Q: Most dangerous extrarenal complication? A: Intracranial berry aneurysm causing subarachnoid haemorrhage.
• Q: Investigation of choice? A: Ultrasound (USG); MRI for TKV monitoring.
• Q: How is progression delayed? A: Control of hypertension (ACE inhibitor/ARB); tolvaptan.
• Q: What is the difference between ADPKD and ARPKD? A: ADPKD is adult onset, dominant, PKD1/PKD2 genes; ARPKD is infantile, recessive, PKHD1 gene.
• Q: What percentage develop ESRD? A: ~50% of affected individuals.

3. SPLENOMEGALY (Enlarged Spleen)

Cut section of an enlarged spleen showing infarcts - Robbins Pathology

Normal vs Enlarged

• Normal spleen weight: 150-200 g
• Mild splenomegaly: 200-400 g (e.g. acute splenitis)
• Moderate: 500-1000 g
• Massive splenomegaly: >1000 g (up to 5000 g in congestive causes)

Causes (Classified)

• Bacterial: Infectious endocarditis, tuberculosis, typhoid, brucellosis
• Viral: Infectious mononucleosis (EBV), CMV
• Parasitic: Malaria, visceral leishmaniasis (Kala-azar) - causes massive splenomegaly

• Cirrhosis of liver (most common cause of massive congestive splenomegaly)
• Schistosomiasis ("pipestem" fibrosis)
• Portal vein thrombosis
• Splenic vein thrombosis (carcinoma pancreas/stomach)
• Right heart failure (tricuspid valve disease, cor pulmonale)

• Haemolytic anaemias (hereditary spherocytosis, thalassemia, sickle cell - early)
• Leukaemias - CML, ALL
• Lymphomas (especially indolent/follicular)
• Myeloproliferative disorders: polycythaemia vera, primary myelofibrosis, essential thrombocythaemia
• Hairy cell leukaemia

• Rheumatoid arthritis (Felty's syndrome)
• SLE
• Sarcoidosis
• Amyloidosis

• Gaucher disease (most common lysosomal storage disease causing splenomegaly)
• Niemann-Pick disease
• Glycogen storage diseases

Massive Splenomegaly - Classic Causes (Important for Viva)

1. CML (Chronic Myeloid Leukaemia)
2. Kala-azar (visceral leishmaniasis)
3. Gaucher disease
4. Lymphoma (indolent/hairy cell)
5. Thalassaemia major
6. Primary myelofibrosis
7. Malaria (chronic hyperreactive malarial splenomegaly)

Gross Pathology (Specimen Description)

• Enlarged, firm organ with thickened fibrous capsule (in chronic congestion)
• Cut surface: congested red pulp, may show infarcts (pale, wedge-shaped, subcapsular)
• In congestive splenomegaly: dilated sinusoids, fibrosis, Gamna-Gandy bodies (hemosiderin deposits)

Clinical Features

• Dragging sensation in left upper quadrant
• Discomfort after eating (pressure on stomach)
• Hypersplenism - triad of: anaemia + leukopenia + thrombocytopenia (due to increased sequestration and phagocytosis)
• Spleen palpable below left costal margin
• Associated features of the underlying cause

Diagnosis

• Clinical examination - splenomegaly detected on palpation/percussion
• Ultrasound - confirms, measures size
• CT scan - defines size and nature; detects infarcts
• Blood counts - CBC (cytopenias in hypersplenism)
• Bone marrow biopsy - for haematological causes
• Liver function tests, viral serology, malarial smear as indicated
• Peripheral blood smear - target cells (thalassemia), smudge cells (CLL), tear-drop cells (myelofibrosis)

Treatment

• Treat the underlying cause - primary goal
• Splenectomy indications:
  • Hereditary spherocytosis
  • Immune thrombocytopenic purpura (ITP) refractory to medical therapy
  • Symptomatic hypersplenism
  • Splenic rupture
  • Staging/diagnosis (selected cases)
• Post-splenectomy: vaccinate against encapsulated organisms (Pneumococcus, Meningococcus, H. influenzae) - risk of overwhelming post-splenectomy sepsis (OPSS)
• Long-term prophylactic penicillin in asplenic patients

Possible Viva Questions

• Q: What is hypersplenism? A: Cytopenias (anaemia, leukopenia, thrombocytopenia) due to excessive sequestration and destruction of blood cells in an enlarged spleen.
• Q: Causes of massive splenomegaly? A: CML, kala-azar, myelofibrosis, Gaucher disease, malaria, thalassaemia, hairy cell leukaemia, lymphoma.
• Q: What is Felty's syndrome? A: Triad of rheumatoid arthritis + splenomegaly + neutropenia.
• Q: Risk after splenectomy? A: Overwhelming post-splenectomy sepsis (OPSS) due to encapsulated bacteria - prevent with vaccines.
• Q: What is the most common cause of massive congestive splenomegaly? A: Cirrhosis of the liver leading to portal hypertension.
• Q: Gamna-Gandy bodies? A: Foci of hemosiderin, calcium, and fibrous tissue in the spleen - seen in chronic congestive splenomegaly, sickle cell disease; appear as low-signal foci on MRI.

4. TERATOMA

Mature cystic teratoma (dermoid cyst) of the ovary - Robbins & Kumar Basic Pathology

What is it?

Classification

Location by Site

• Ovary - most common site in females; mature cystic teratoma (dermoid cyst) is the most common ovarian germ cell tumor
• Testis - teratoma in post-pubertal males is considered malignant; in pre-pubertal boys it is benign
• Sacrococcygeal - most common germ cell tumor in neonates/infants
• Mediastinum - anterior mediastinum; must distinguish from thymoma/lymphoma on imaging
• Retroperitoneum
• Pineal gland/CNS

Gross Pathology (Specimen Description - Ovarian Dermoid)

• Cystic ovarian mass
• Cut section shows: hair, cheesy sebaceous material (yellow/white), teeth (calcifications), skin
• "Rokitansky nodule" or "dermoid plug" - solid protuberance within the cyst wall from which hair tufts emerge
• Usually unilateral (10-15% bilateral)

Histology

• Mature cystic teratoma: cyst lined by stratified squamous epithelium; skin appendages (sebaceous glands, hair follicles); may contain teeth, bone, cartilage, neural tissue, thyroid tissue
• Immature teratoma: primitive neuroepithelium, embryonal/fetal-type tissues
• Origin: parthenogenetic development from a single germ cell (hence 46,XX karyotype)

Tumour Markers

• Mature teratoma - usually negative
• Immature teratoma - may have raised AFP (alpha-fetoprotein)
• Mixed GCT with teratoma component - AFP and/or beta-hCG elevated depending on other elements

Imaging Features

• X-ray / CT - calcification (teeth/bone), fat density, cystic component - classic triad
• Ultrasound - hyperechoic component with posterior acoustic shadowing (calcification/teeth); "tip of iceberg" sign
• MRI - fat signal (high T1, suppresses on fat-sat), cystic (high T2), soft tissue elements (isointense to muscle)
• Dermoid mesh (floating hair strands within cyst) on ultrasound

Complications

• Torsion - most common complication (10-15% of cases); presents as acute abdomen - surgical emergency
• Rupture - can cause chemical peritonitis from spillage of sebaceous material
• Malignant transformation - in ~1% of mature dermoids; usually squamous cell carcinoma
• Infection - rare
• Autoimmune encephalitis - limbic encephalitis with anti-NMDA receptor antibodies in women with mature neural tissue-containing teratomas; often remits after tumor resection

Treatment

• Ovarian cystectomy (cyst removal, preserve ovarian tissue) - for young women with mature dermoid cyst; laparoscopic approach preferred
• Oophorectomy - if large, recurrent, or in postmenopausal women
• Orchidectomy - for testicular teratoma (post-pubertal, as it is malignant)
• Chemotherapy (BEP - Bleomycin, Etoposide, Cisplatin) - for malignant/immature teratoma; note teratoma per se is chemo-resistant
• Surgery for residual mass after chemotherapy - to excise residual teratoma (which is chemo-resistant)

Possible Viva Questions

• Q: What is a dermoid cyst? A: Mature cystic teratoma of the ovary; contains tissues from all 3 germ layers, predominantly ectodermal (hair, skin, sebaceous glands, teeth).
• Q: Most common complication? A: Torsion (10-15%); presents as acute surgical emergency.
• Q: Most common site of teratoma? A: Ovary (females), sacrococcyx (neonates).
• Q: What is the karyotype of mature ovarian teratoma? A: 46,XX - arises by parthenogenesis from a single germ cell.
• Q: Malignant transformation in dermoid? A: ~1%; usually squamous cell carcinoma.
• Q: How does teratoma look on imaging? A: Fat + calcification + cystic components = pathognomonic on CT. Teeth are classical.
• Q: Rokitansky nodule? A: Solid protuberance/mural nodule within dermoid cyst from which hair and teeth arise.
• Q: What is anti-NMDA receptor encephalitis? A: Autoimmune limbic encephalitis associated with ovarian teratoma containing neural tissue; treat by removing the tumor.
• Q: Difference between mature and immature teratoma? A: Mature (benign) - all adult-type tissues, 46XX; Immature (malignant) - embryonal/primitive neuroepithelium, mean age 18 years.
• Q: Why is teratoma resistant to chemotherapy? A: It is histologically benign/differentiated tissue even in a metastatic setting; chemo cannot kill mature differentiated cells.