Clinical presentation of tumors and diagnostic

challengesFedro Peccatori

European Istitute of OncologyEuropean School of Oncology

Milan, Italy

ESMO PRECEPTORSHIP PROGRAMMEADOLESCENT & YOUNG ADULT

MALIGNANCIESLugano, 11-12 May 2018

Clinical presentation and diagnostic challenges

Abnormal chest X-rays

Clinical presentation

• Lucia is 30 years old

• She does not smoke

• No known allergies

• Rheumatoid arthritis treated with methotrexate

• Acute respiratory worsening

Anterior mediastinal mass on CXR

Evaluation of mediastinal mass by location

Chest Radiograph Mediastinal mass

CT scan

Differential diagnosis (based on mediastinal compartment and age)

Superior Anterior Middle Posterior

Thymoma Teratoma Pericardial cyst Neurogenic tumor

Thyroid Lymphoma Bronchogenic cyst Esophagealdisease

Germ cell tumor Enteric cyst

Differential Diagnosis of Anterior Mediastinal Masses

1. Thymus

a) Thymoma

b) Thymic Cyst

c) Thymic Hyperplasia

d) Thymolipoma

e) Thymic Carcinoma

f) Thymic Carcinoid

2. Teratoma and other germ cell tumors

3. Thyroid (intrathoracic goiter)

4. Lymphoma

Further exams

• Blood test: no specific alterations, tumormarkers are negative

• Findings were confirmed on CT scan

• Mediastinal biopsy: invasive thymoma

Thymoma• Most common anterior mediastinal primary tumor; 20% of

adult mediastinal neoplasms

• Presentation between ages 30-50

• Symptoms secondary to compression: chest pain, cough, dyspnea, SVC syndrome ( but 50% are asymptomatic)

• Parathymic syndromes (approx. 40% of patients) (myasthenia gravis, pure red cell aplasia, hypogammaglobulinemia, endocrine disorders, connectivetissue disorders)

Swelled cervical nodes

Case history

• Marco is 22 years old

• He works as a mechanic in Milan

• Smokes 10-15 cigarettes/day

• Recreational use of marijuana and alcohol

• Plays soccer as goalkeeper in a local team

• Normal BMI

• Younger sister with ALL at 4 years of age

Clinical presentation

• Asthenia since 2 weeks

• Fever up to 37.8 C° for 5 days

• Submandibular and laterocervical nodeswelling (2x3 cm)

What would you do and what is your diagnosis?

Clinical presentation

• Clinical examination: sore throat, tender non confluent submandibular lymphadenopaties

• No liver or spleen enlargement

• Normal thoracic examination

Throat swab:

Diagnosis & Treatment

• Strep A infection

• Ibuprofen + Azitromycin 500 mg qd x 3 days

Full recovery after 1 week

…When you hear hoofbeats think horses, not zebrae

T. Woodward, 1940

Persistent mastitis duringbreastfeeding

Case history

• Anna is 33 years old

• She has had her first pregnancy last year and delivered a healthy 3450g boy in Dec 2017

• She has been trying to breastfeed since then, with some local issues and the need of formula add on, 2x day

• On April 25 she notices that her right breasthas become red and swollen.

• No fever, moderate pain, difficulty to latch

Case history (cont.)

What would you do and what is your

diagnosis?

Case history (cont..)

• A clinical diagnosis of mastitis was made

• She is given Clyndamycin, probiotics, NSAID, bed rest, hot/cold packages x 10 days

• Symptoms did not improve and she startedgetting worried

Case history (cont…)

• Breast Ultrasound

Case history (cont…)

• Right Mammogram

Histological diagnosis

• Tru cut biopsy:

– Poorly differentiated ductal infiltrating carcinoma with extensive lymphovascular invasion.

ER 0%, PgR 0%, Her2: absent, Ki67: 85%

Clinico-pathological diagnosis

• Mastitis carcinomatosa (inflammatory breast cancer)

• Subsequent familiar history revealed that hergrandmother had died of ovarian cancer

• Genetic testing was positive for pathogenic BRCA1 mutation

…When you hear hoofbeats consider also zebrae!

Clinical presentation and diagnostic challenges

✓ Clinical presentation of tumors in AYA is similar to that of older adults, but:

• cancer incidence in AYA is low, thus diagnostic delay and misdiagnosis is common

• symptoms can be overlapping with benign conditions• cancer denial is frequent in patients, parents and

doctors

Clinical presentation and diagnostic challenges

✓ Be vigilant and:

• think zebrae (when the other diagnoses do not fit)• rare tumors need excellent pathologists• refer the patient if you do not feel confident

Thank you!

+39 3498357703

fedro.peccatori@ieo.it

fpeccatori@eso.net