CONGENITAL CERVICAL TERATOMA

Ajay Agade

CASE REPORT

1 day old neonate

Antenatal History of anterior neck swelling

Confirmed postnatally

ANTENATAL COURSE

Maternal age 26 years

Second gravida with one alive child

Previous LSCS

No other significant Medical/Surgical issues Regular follow up while in Antenatal period

ANTENATAL ASSESSMENT

Clinical assessments normal

Fetus has large neck mass on USG in 37th week

Mild Polyhydramnios

Antenatal diagnosis was cystic hygroma

ANTENATAL ULTRASOUND

11.01.2011

Fetus with vertical lie

Cephalic presentation

No abnormality detected

ANTENATAL ULTRASOUND

8.03.2011

Well defined hypo echoic mass

Dimensions 5.5 X 6 cm

located in cervical region

Lateral to neck vessels

ANTENATAL MANAGMENT

Guarded prognosis was explained

Continuation of pregnancy was advised

Mode of delivery was to be decided upon obstetric indications

Antenatal procedures not feasible

LABOUR ROOM ASSESSMENT

FTLSCS at JLNHRC on 19/3/2011 12:50 pm

Baby had massive neck mass

Cried immediately after birth

Had mild respiratory distress in supine position

APGAR score at 1 min – 7 5 min - 8

LABOUR ROOM MANAGMENT Birth of high risk newborn anticipated

Instruments for securing airways were ready had the baby deteriorated further

Kept in thermo neutral environment

Dried and wrapped in warm clothing's

Oro-nasal suctioning were performed

Distress was alleviated in right lateral position

TRANSPORTATION

Initial stabilization assured in labour room

Necessary equipments kept ready in NICU

Transported with warm clothes

Airway positioning while transporting assured

Case was informed to pediatric surgeon

NICU ASSESSMENT-VITALS

› Euthermic

› No other dysmorphic features

› CRT < 2 sec

› Heart rate 122/min

› Respiratory Rate 40/min

› BP 58/32 (40) mm Hg

› Anthropometry

NICU ASSESSMENT-SYSTEMIC

› Respiratory system - B/L breath sounds distinct equally heard

conducted sounds + Inspiratory stridor

› CVS – S1S2 +, no murmurs

› Per Abdomen – soft, non distended, non tender

› CNS – NNR present

› Ext genital – female, normal

NICU ASSESSMENT-LOCAL

› Solitary neck mass

› Large –10x8x6 cms

› Midline, encroaching towards right

› Non pulsatile

› Skin - normal

Palpation confirmed the findings

Temp – normal

Tenderness – absent

firm to hard mass

Not compressible

Well encapsulated

Mobile in all the directions

Not adherent to underlying structures

Not adherent to skin

Trans illumination- absent

Not pulsatile

No thrills or hum

NICU MANAGMENT

Thermo neutral environment with servo control

Airways management and positioning

Fluid and electrolyte

Nutrition

Respiratory and Hemodynamic monitoring

DIFFERENTIAL DIAGNOSIS

› Tense cystic hygroma

› Teratoma

› Hemangioma

› Neuorblastoma

› Rhabdomyosarcoma

› Rarer conditions Congenital thymic cyst Congenital goitre Branchial cleft cyst

BEDSIDE USG NECK

› Solid mass

› Well encapsulated

› Few areas of cystic degeneration

› Few stipulated calcifications

› No large calibre vessels inside the tumor

› Neck vessels pushed laterally

› Tracheal displacement +

ENT consultation

› airway status › need of elective/emergent intubation› Intra operative help

ENT Opinion

› No pressure effect on trachea› No need of emergent intubation› CT scan› FNAC

FNAC avoided due to

› possible risk of hemorrhage within the mass leading to airway compromise.

› Non representative areas aspirated

› Limited sensitivity of FNAC

CT SCAN NECK WITH THORAX

› Origin

› extent

› compression effects

› associated malformations.

C.T NECK AND THORAX

Localisation of mass Characterisation of nature of lesion Airway column assesment Relationship with major neck vessels

http://www.radiologyassistant.nl/images/4aedc9ee15e9fCT-neck-spaces.jpg

CT NECK AND THORAX

3 mm section thickness plain and post contrast

Base of skull to diaphragm

LARGE HETEROGENOUS MASS WITH NODULAR CALCIFICATIONS

LT THYROID GLAND SEEN

POSTCONTRAST SCAN SHOWS DISPLACEMENT OF PAROTID GLAND AND

MAJOR VESSELS

WELL ENCAPSULATED NOT INVOLVING SKIN

NO INTRATHORACIC EXTENSION

CORONAL RECONSTRUCTION C.T

C.T scan findings

A large 6.5x6x5 cm sized heterogenous Mildly enhancing mass lesion wnich is well

encapsulated containing scattered nodular calcification seen involving neck anteriorly and on rt side

Supreiorly upto submandibular space Inferiorly supraclavicular region Displacing airway column on left and major

vessels posteriorly possibility of cervical teratoma.To be correlated with clinical and histopathological findings

TUMOUR MARKER ASSAY

Serum alpha feto-protein on day 2- 83,000 ng/ml

Normal range = 100000 to 125 ng/ml from neonatal to infancy

PROVISIONAL DIAGNOSIS

› Clinical findings - solid mass

› USG - Non vascular

› CT - Heterogenous - Calcification

› Raised AFP

Cervical Teratoma

TREATMENT PLAN

› Primary Surgical excision

ANAESTHESIA

Airway assessment

General anaesthesia

AIRWAY ASSESSMENT

Direct larngoscopy Difficult airway

ENDOTRACHEAL INTUBATION

POSITION

INCISION

DISSECTION

PREOP POSTOP

HPE REPORT

Immature cervical teratoma , grade 2

GROSS SPECIMEN

Specimen of

6.5x6x3.5 cm

received.

O/S- nodular with

retracted capsule.

GROSS SPECIMEN C/S- shows lobulated grey white

mass predominantly solid with

multiple small cysts .

Cysts are of varying size from

1mm to1cm diameter filled with

mucinous material.

Few cartilagenous area, slimy

area & bony spicules were

present in solid part of the

mass.

H&E STAIN 40XMature cartilage

H&E STAIN 10XImmature cartilage

H&E STAIN 10X RESPIRATORY EPITHLIAL CLEFT WITH LINING

H&E STAIN 10X SQUAMOUS EPITHELIUM WITH KERATINIZATION

H&E STAIN 10X NESTS OF IMMATURE SQUAMOUS EPITHELIUM

H&E STAIN 10X IMMATURE NEURAL EPITHELIUM

H&E STAIN 10X BLASTEMAL CELLS

H& E STAIN BLASTEMAL CELLS

H & E STAIN 20X MUCIN PRODUCING GLANDS

Microscopic examination

• Multiple sections studied from tumour shows mature as

well as immature elements derived from all 3 germ layers.

• Mature elements comprise of nests of squamous cells,

glands, mature cartilage, occasional bony tissue, neural

tissue & smooth muscle tissue.

• Immature elements include neuroepithelial elements,

occasional group of blastemal cells & immature cartilage in

myxoid stroma. Mitosis is in the range of 2/10HPF. Normal

thyroid tissue is not seen in the section studied.

• Impression:- ABOVE FEATURES FAVOUR IMMATURE CERVICAL TERATOMA (Grade –II)

HISTOLOGICAL GRADING OF IMMATURE TERATOMA

0 Mature solid teratoma

I Abundance of mature tissues, intermixed with loose mesenchymal tissue with occasional mitoses; immature cartilage; tooth anlage

II Fewer mature tissues; rare foci of neuroepithelium with common mitoses, not exceeding three 40X fields in any one slide

III Few or no mature tissue ; numerous neuroepithelial elements, merging with a cellular stroma occupying ≥four 40X fields

WHAT IS TERATOMA? Greek word – monstrous tumour

Derived from all three embryonic germ layers-ectoderm, endoderm and mesoderm

Can occur anywhere in the body

Most common location – sacral region

Rarer in adults since most are detected in childhood.

Neonatal period are uncommon and virtually always benign

CERVICAL TERATOMA

Rare congenital tumours of neck

Challenging in the neonatal period

Present as massive neck swelling with airway compression

High perinatal mortality and morbidity rates.

Predominantly of the mature variety

CERVICAL TERATOMA

WHAT IS THE INCIDENCE OF CERVICAL TERATOMA?

Constitute 1.6 to 9.3% of pediatric teratomas, 1per 40,000 births

Global scenario - Over 150 cases reported so far

Indian scenario - 4 cases ,1stiiborn, 1 died soon after birth, 2 surviving

No apparent relationship to the mother's age

No greater odds of occurance in males versus females

No racial or ethnic preference.

WHAT CAUSES CERVICAL TERATOMA?

Exact cause still unknown

Inability of totipotent cells to differentiate into a complete body or organ

Abnormal development of a conjoined twin

Arises from stem cells within the thyroid gland

PROBABLE GENETIC FACTORS

Novel karyotypic changes on comparative genomic hybridization

› 1p21.1 amplification

›  9p22 deletion

› 17q21.33 1-copy gain

ASSOCIATED ANOMALIES

Rare

› Imperforate anus

› Chondrodystrophia fetalis,

› Hypoplastic left ventricle with pulmonary

hypoplasia,

› Cystic fibrosis,

› Absence of corpus callosum,

› Arachanoid cyst

CLASSIFICATION

Based on birth status, age at diagnosis, and the presence or absence of respiratory distress.

› Group I--stillborn and moribund live newborns

› Group II--newborn with respiratory distress

› Group III--newborn without respiratory distress

› Group IV--children age 1 month to 18 years

› Group V--adults

IS CLINICAL DIFFERENTIATION

POSSIBLE? Physical Examination

› Size› Multiplicity› Laterality› Consistency› Color› Mobility› Tenderness› Fluctuation› Transillumination test

MOST IMPORTANT IS LOCATION.

LYMPHANGIOMA (CYSTIC HYGROMA)

HAEMANGIOMA

BRANCHIAL CLEFT CYST

THYROGLOSSAL CYST

DERMOID CYST

THYMIC CYST

HOW IS CERVICAL TERATOMA DIAGNOSED ANTENATALLY?

USG

MRI

ANTENATAL USG

Ultrasound – best modality

Asymmetric, well-defined

masses

Large and bulky.

Calcifications

Polyhydramnios in 20 to 40

percent cases

Other fetal abnormalities +

ANTENATAL MRI

Shows mediastinal

involvement

position of the

airway.

Partial / total

Compression

What are the Fetal Interventions for Cervical Teratoma?

Ex utero intrapartum

treatment (EXIT)

procedure / OOPS

procedure

Specifically designed to

preserve uteroplacental

gas exchange to provide

time to secure the airway

EXIT PROCEDURE

provides time for:

› Neck dissection

› Clip removal

› Bronchoscopy

› Endotracheal intubation

› Surfactant administration

› Placement of umbilical arterial and venous

catheters

HOW IS PREGNANCY MANAGED WHEN CERVICAL TERATOMA IS DIAGNOSED?

Frequent ANCs Frequent ultrasound exams

recommended to monitor› amniotic fluid volume, › tumor size, › growth and the general health of the fetus

Institutional delivery encouraged Elective cesarean preferred Team approach for ex utero management

HOW TO INVESTIGATE ?

Baseline hemogram and blood biochemistry

USG

CT scan/MRI

FNAC and Biopsy

Thyroid and parathyroid function test

Serum alpha fetoprotien and beta HCG

Transcription factors GATA-4 and GATA-6

Genetic studies

POSTNATAL MANAGEMENT

Expedient multidisciplinary approach

› Airway management

› Definitive management

WHAT ARE TREATMENT OPTIONS FOR THE NEWBORN?

Primary surgical excision

If malignancy proved then

› Chemotherapy

› Radiotherapy

› Combination therapy

WHAT IS THE LONG-TERM OUTCOME WITH CERVICAL TERATOMA?

Risk for serious thyroid conditions

› Hypoparathyroidisim

› Hypothyroidism

Developmental delay and mental

retardation

Malignant transformation

Recurrence

Metastasize to regional lymph nodes

Occurring among siblings (only one

case reported)

Follow up

Recommendations › AFP levels be obtained

at birth at 1month, three-month intervals in infancy and yearly thereafter, upto 3 years of life

› MRI scanning twice a year for the first three years of life.

PROGNOSIS

Airway obstruction at birth

Degree of maturity of tissues Completeness of resection

Associated anomalies

Mortality is high in untreated infants & low if treated surgically

MULTIDISCIPLINARY TEAM APPROACH