Janet Woodroof

Autologous Fat Injection into the Vocal Folds: Technical Considerations and Long‐Term Follow‐up

Numerous materials have been used over the years for vocal fold augmentation. Early use of bioreactive compounds, such as paraffin, gave way to relatively inert substances, such as Teflon. More recently biocompatible materials, such as collagen and autologous fat, have gained wider acceptance. Autologous fat, in particular, is an easily obtainable source for potential rehabilitation of scarred, paralytic, and atrophic vocal folds. However, long‐term systematic follow‐up has been lacking. Since 1991 we at the University of Kansas Center for Voice and Swallowing Disorders have employed autologous fat for vocal fold augmentation, primarily for either paralysis or repair of a volume‐deficient vocal fold segment. Twenty‐two patients have completed ≥1 year of follow‐up studies, including graded videolaryngostroboscopy, electroglottography, computerized acoustic analysis, and blinded perceptual analysis by two speech‐language pathologists. Statistically significant improvement was demonstrated in many parameters tested, frequently improving with time. Although the volume‐deficient group had more “normal” values, the paralysis group had greater improvement in many variables using fat injection. We conclude that while autologous fat injections of the vocal fold may have long‐term benefits, certain technical considerations and criteria of selection of patients are critical for success.

Congenital Adrenal Hyperplasia and Malignant Leydig Cell Tumor

ABSTRACT Leydig cell tumors are very rarely seen testicular tumors and can be difficult to distinguish from testicular tumors of the adrenogenital syndrome. Testicular tumors of the adrenogenital syndrome are confined to patients with congenital adrenal hyperplasia. The authors report a case of a patient with malignant Leydig cell tumor and a history of congenital adrenal hyperplasia (adrenogenital syndrome). To the authors’ knowledge, this has not been reported previously.

First report of a B cell lymphoproliferative disorder arising in a patient treated with immune suppressants for severe aplastic anemia

Aplastic anemia is a disorder characterized by pancytopenia and bone marrow hypocellularity. There is some evidence that aplastic anemia may be due to suppression of hematopoiesis by activated T‐suppressor cells. Thus, immunosuppressive agents have been used as an alternative to bone marrow transplantation for treatment. We report on a unique case of a patient with aplastic anemia who was treated with a course of immunosuppression including cyclosporine (CSA), anti‐thymocyte globulin (ATG), and prednisone. Five months after this treatment, the patient developed a B cell lymphoproliferative disorder which was successfully treated with radiation therapy. Prior reports of CSA‐associated lymphoproliferative disorders have appeared in the literature as potential side effects of immunosuppression following transplantation. This is the first report of a lymphoproliferative disorder associated with immunosuppressive treatment of aplastic anemia in a nontransplant setting. Thus, when presenting options for treatment of aplastic anemia, lymphoproliferative disorders should be included as a rare complication of immunosuppressive therapy.

Middle-ear lipoma as a cause of otomastoiditis

We present a case report which describes a rare cause of a common clinical problem; eustachian tube dysfunction. A seven-year-old child presented with a history of chronic draining ears, despite rigorous medical therapy and multiple ventilation tubes. At myringotomy a mass was noted in the middle ear, and she was taken to the operating room for exploration. The patient was found to have a pedunculated lipoma arising from the anterior medial aspect of the middle-ear cleft producing intermittent obstruction of the eustachian tube orifice. This case represents the fourth case of a middle-ear lipoma in the world literature. We present a review of the literature and an exploration of possible aetiologies of this unusual entity in the differential diagnosis of eustachian tube dysfunction.

First Report of Hürthle Cell Carcinoma Revealed by Octreotide Scanning

Octreotide is an 8-chain amino acid analog of somatostatin. Somatostatin and its receptors occur naturally in multiple sites within the body and serve a suppressive role in endocrine hormone release. When octreotide, which has a considerably longer half-life than somatostatin, is combined with a radioactive isotope, receptor-based imaging can be performed to visualize tumors with high concentrations of somatostatin receptors. Tumors of neural crest origin — Pituitary adenomas, islet cell tumors, medullary thyroid carcinomas, pheochromocytomas, carcinoids, and paragangliomas — all express high levels of somatostatin receptors. We present the first reported positive octreotide scan of a Hürthle cell carcinoma of the thyroid and, more important, discuss the role of octreotide scanning in otolaryngology, which has not yet been reviewed by our literature.

Myelodysplastic Syndrome with concomitant t(5;21)(q15;q22) and del(5)(q13q33): case report and review of literature.

Chromosomal abnormalities lead to the development of hematologic malignancies such as Myelodysplastic Syndrome (MDS). Known chromosomal changes causing MDS include deletion of the long arm of chromosome 5, runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1), and very rarely fusion genes involving RUNX1 at t(5;21)(q15;q22). We present a case of a 71-year-old female with MDS, refractory anemia with excess blasts, type 1, with a combination of two cytogenetic abnormalities, specifically a concomitant translocation between chromosomes 5q15 and 21q22 and deletion of chromosome 5q13q33. Fluorescence in-situ hybridization (FISH) using a probe for RUNX1 (AML1), localized to 21q22, showed three FISH signals for RUNX1, consistent with rearrangement of RUNX1. Therapy was started with Lenalidomide leading to normal blood counts. Most significantly, repeat cytogenetics revealed normal karyotype and resolution of deletion on the long arm of chromosome 5 and a t(5;21). FISH negative for deletion 5q. The results altogether meet criteria for a complete cytogenetic remission (CR). We report a new case of t(5;21)(q15;q22) involving the RUNX1 gene and del(5)(q13q33) in a MDS patient, a combination of chromosomal abnormalities heretofore not reported in the literature. RUNX1 rearrangement is usually associated with an adverse prognosis in AML and MDS. Deletions of 5q are typically associated with poor prognosis in AML, however it is usually associated with a favorable prognosis in MDS. Our patient responded very well to Lenalidomide therapy with achievement of CR. Lenalidomide is approved for treatment of anemia in low and intermediate risk MDS with del (5q), however based on a search of literature it seems that RUNX1 mutations are also more prominent in patients who have responded to Lenalidomide therapy. MDS is a genomically unstable disease. Hence, it is conceivable that our patient started with a 5q minus syndrome and then acquired the second hit RUNX1 translocation leading to an accelerated phase of myeloid neoplasm or refractory anemia with excess blasts, type 1. Hence, the temporal relationship between acquisition of del 5q and RUNX1 rearrangement may have influenced the clinical outcome and possibly response to therapy.

A Parathyroid Hemangioma of the Retropharynx

A Parathyroid Hemangioma of the Retropharynx Hemangiomas are aberrant vascular lesions commonly seen in the head, neck, and oral cavity, with a higher prevalence in white populations and female patients.1 Hemangiomas are also the most common lesions of the salivary glands, predominantly of the parotid, in childhood.2 Parathyroid hemangiomas are rare, with only 4 previous cases described. The first of these was published by Merino et al,3 who described 2 cases of intraparathyroid hemangiomas in patients with primary hyperparathyroidism. Svec et al4 described a similar pathology arising from a parathyroid gland adenoma in a patient with primary hyperparathyroidism. Nguyen et al5 reported the first account of a parathyroid hemangioma in a patient without accompanying hyperparathyroidism.

High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA

Acute promyelocytic leukemia (APL) is classically characterized by chromosomal translocation (15;17), resulting in the PML-RARA fusion protein leading to disease. Here, we present a case of a 50-year-old man who presented with signs and symptoms of acute leukemia with concern for APL. Therapy was immediately initiated with all-trans retinoic acid. The morphology of his leukemic blasts was consistent with the hypogranular variant of APL. Subsequent FISH and cytogenetic analysis revealed a unique translocation involving five chromosomal regions: 9q34, 17q21, 15q24, 12q13, and 15q26.1. Molecular testing demonstrated PML/RARA fusion transcripts. Treatment with conventional chemotherapy was added and he went into a complete remission. Given his elevated white blood cell count at presentation, intrathecal chemotherapy for central nervous system prophylaxis was also given. The patient remains on maintenance therapy and remains in remission. This is the first such report of a 5-way chromosomal translocation leading to APL. Similar to APL with chromosomal translocations other than classical t(15;17) which result in the typical PML-RARA fusion, our patient responded promptly to an ATRA-containing regimen and remains in complete remission.