Sir:
Fanconi anemia is a rare genetic disease characterized by bone marrow failure (aplastic anemia), chromosomal instability, congenital malformations such as short stature and skeletal anomalies, and a tendency to form both solid and nonsolid organ malignancies. Multiple genes have been implicated in Fanconi anemia, including some involved in DNA repair, cytokine regulation, and apoptosis.1 2 3
Malignancy rates are high in patients with Fanconi anemia, particularly leukemias and squamous cell carcinoma of the head and neck, with the incidence of solid tumors approaching 36 percent by 50 years of age.2 4
A 43-year-old woman with Fanconi anemia was referred to our institution with a large erosive mass along the left floor of the mouth invading the mandible (Fig. 1 ). A biopsy demonstrated squamous cell carcinoma of the left mandible alveolar mucosa. The patient had been scheduled for resection at another institution, but this was canceled in the operating room, reportedly because of thrombocytopenia refractory to platelet transfusion. To optimize the patient for surgery, she was admitted to our institution 2 days before surgery with a platelet count of 28,000 cells/μl and a hematocrit of 23.1 percent. She received transfusions to a hematocrit of 29.9 percent and a platelet count of 110,000 cells/μl. The patient underwent composite resection of the left hemimandible and floor of the mouth, partial glossectomy, and bilateral modified radical neck dissections, followed by immediate reconstruction with a right fibula osteomyocutaneous free flap. The patient tolerated the surgery well, with no hematologic complications.
Fig. 1.:
A 43-year-old woman with Fanconi anemia presented with a large erosive mass along the left floor of the mouth invading the mandible. Biopsy results demonstrated poorly differentiated squamous cell carcinoma invading the left floor of the mouth and mandible and involving neck lymph nodes.
The patient required postoperative blood and platelet transfusions to maintain a hemoglobin above 7.0 g/dl and target platelet count above 50,000 cells/μl. Perioperative anticoagulants were avoided. Her postoperative course was uneventful and she was discharged 2 weeks after surgery tolerating a liquid diet. Four months postoperatively, the patient was tolerating a soft diet with satisfactory jaw opening (Fig. 2 ). She is currently undergoing adjuvant radiation therapy.
Fig. 2.:
Four months after composite resection of the left hemimandible and floor of the mouth, partial glossectomy, bilateral modified radical neck dissections, and reconstruction with a right fibula osteomyocutaneous free flap, the patient is tolerating a soft diet with satisfactory jaw opening.
Although only a single case, this report demonstrates that free-tissue transfer can be undertaken successfully in patients with Fanconi anemia. Preoperative and perioperative anemia and thrombocytopenia may be managed successfully with careful monitoring and timely transfusion. Although somewhat empirical, we maintained the patient's platelet count above 50,000 cells/μl while she was in the hospital. Consequently, aggressive resection and reconstruction of the patient's malignancy was performed without any major complications.
Jerry W. Chao, B.S.
Brian D. Cohen, M.D.
Christine H. Rohde, M.D.
David I. Kutler, M.D.
Jason A. Spector, M.D.
Division of Plastic Surgery
Weill Cornell Medical College
New York, N.Y.
REFERENCES
1.Bagby GC, Alter BP. Fanconi anemia.
Semin Hematol. 2006;43:147–156.
2.Kutler DI, Singh B, Satagopan J, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR).
Blood 2003;101:1249–1256.
3.Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Orkin SH, Ginsburg D, Look AT, eds.
Nathan and Oski's Hematology of Infancy and Childhood . Philadelphia: Saunders; 2003:280.
4.Vaitiekaitis AS, Grau WH. Squamous cell carcinoma of the mandible in Fanconi anemia: Report of a case.
J Oral Surg. 1980;38:372–373.
Section Description
GUIDELINES
Viewpoints , pertaining to issues of general interest, are welcome, even if they are not related to items previously published. Viewpoints may present unique techniques, brief technology updates, technical notes, and so on. Viewpoints will be published on a space-available basis because they are typically less timesensitive than Letters and other types of articles. Please note the following criteria:
Authors will be listed in the order in which they appear in the submission. Viewpoints should be submitted electronically via PRS' enkwell, at www.editorialmanager.com/prs/
We reserve the right to edit Viewpoints to meet requirements of space and format. Any financial interests relevant to the content must be disclosed. Submission of a Viewpoint constitutes permission for the American Society of Plastic Surgeons and its licensees and assignees to publish it in the Journal and in any other form or medium.
The views, opinions, and conclusions expressed in the Viewpoints represent the personal opinions of the individual writers and not those of the publisher, the Editorial Board, or the sponsors of the Journal . Any stated views, opinions, and conclusions do not reflect the policy of any of the sponsoring organizations or of the institutions with which the writer is affiliated, and the publisher, the Editorial Board, and the sponsoring organizations assume no responsibility for the content of such correspondence.
