CASE PRESENTATION
A six-year-old girl was admitted to a general hospital with fever,
persistent cough and dyspnea. No episodes of recurrent respiratory
infections were reported. Blood tests revealed only an increase of
C-reactive protein 9.67 mg/dl (range 0-0.5), Chest X-ray showed a
bilateral pneumonia. Oxygen therapy plus antibiotic therapy and steroids
were started without any improvement and needing for invasive
respiratory support
A Computed Tomography (CT) scan confirmed multiple pulmonary
consolidations on both lobes. COVID molecular nasopharyngeal test was
negative. MA solid-like parietal protrusion floating in the tracheal
lumen (approximately 12x8 mm) was detected. All microbiological tests
were negative. Diagnostic work-up included a fibroscopy with
bronchiolar-alveolar washing and biopsy of the endotracheal mass.
Patient was referred to our hospital.
The pathology revealed an ulcerated mucosa with an underlying
proliferation of bland spindle to stellate-shaped cells in a myxoid
stroma associated with a mild inflammatory infiltrate including
lymphocytes, scattered plasma cells and histiocytes. Immunohystochemical
stains showed positivity for vimentin and smooth muscle actin while
ALK1, ALKp80, desmin, myogenin, cytocheratin CAM5.2, CD45, CD31, S100,
EMA and MUC4 were all negative. An unbalanced rearrangement of ALK
(exons 10-20), showing TRAF3-ALK fusion transcript was found. Finally, a
diagnosis of IMT was rendered. The surgery was postponed considering the
high risk of bleeding, mutilation and life-threatening complications.
Crizotinib was started at 165 mg/mq/dose twice daily for 21 days/course
with a rapid improvement and weaning from mechanical respiratory support
confirmed at endotracheal fibroscopy demonstrating a partial response
(fig.1). The child was discharged from pediatric intensive care
unit (PICU). After two-week treatment, a new CT scan showed a 70%
reduction of the mass achieving the best response after 4 weeks from
Crizotinib. No mild or severe treatment side effect were observed.
At the time of the last follow-up, after eight months of therapy, she is
still on treatment. The patient is in good condition and achieved a
complete response (fig 2).