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Fanconi anaemia presenting as tonsillar squamous cell carcinoma
*For correspondence: manne.sappu@gmail.com
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Received: ,
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This article was originally published by Medknow Publications & Media Pvt Ltd and was migrated to Scientific Scholar after the change of Publisher.
Fanconi anaemia (FA) is a rare genetic disorder, inherited usually in an autosomal recessive and rarely X-linked fashion with a prevalence rate of 3 cases/million population. A 29 yr old male patient† presented to the Medicine department of GSL General Hospital at Rajamundry, India, in December 2015 with an ulcerative growth in the left tonsillar fossa and ear ache (Fig. 1A, B). Areas of both hyper- and hypopigmentation were found on extremities with deformed right forearm and absence of thumbs in both hands (Fig. 2A, B). X-ray of forearms and wrist revealed hypoplastic radius on the right side and absence of pisiform and trapezium carpal bones on the left side (Fig. 3A, B). His haematological parameters were normal except for thrombocytopenia. Bone marrow study revealed reduced megakaryopoiesis. Biopsy from the tonsillar growth demonstrated moderately differentiated squamous cell carcinoma (Fig. 4A, B). On semen analysis, azoospermia was seen. Chromosomal breakage study displayed marked breakage (7.0/metaphase) compared to control (0.5/metaphase) and rearrangement after treatment with mitomycin C (Fig. 5A, B). Diagnosis of FA was made based on clinical and laboratory findings. The patient's condition improved with chemoradiotherapy and he was under follow up for the last 12 months. Clinically, there was regression of tonsillar growth without much improvement in thrombocytopenia.
- (A) Arrow shows ulcerative growth in tonsillar fossa on the left side, and (B) arrow shows growth in the left tonsillar fossa on computed tomography scan image.
- (A) Arrow shows hyper- and hypopigmented maculae and papules over lower limbs, and (B) arrows show hyper- and hypo-pigmented maculae and papules over upper limbs and absence of thumbs.
- (A) Arrow shows hypoplasia of radius and absence of thumb in the X-ray of the right forearm, and (B) arrow shows the absence of pisiform and trapezium bones in the X-ray of left forearm.
- (A) Arrow in the microphotograph of bone marrow picture shows 40 per cent cellularity with normal erythropoiesis, granulopoiesis and reduced megakaryopoiesis (H and E, ×400) and (B) arrow in the microsection of tonsillar growth shows invasive nests, trabeculae and tongue-like processes of malignant squamous cells (H and E, ×400).
- (A) Chromosomal breakage study shows normal chromosomal pattern, (B) arrow shows markedly increased chromosomal breakage and rearrangement after treatment with mitomycin C.
Conflicts of Interest: None.
