Cases reported "Carcinoma, Medullary"

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1/8. Atypical medullary carcinoma of the breast with cartilaginous metaplasia in a patient with a BRCA1 germline mutation.

    We examined a 34-year-old premenopausal woman who had noticed a left-breast lump a month previously. She had no past history of malignancies but had a family history of breast and ovarian cancers. Her mother had suffered from ovarian cancer when aged 47 years and had died of the disease at age 52. The younger two of the patient's four aunts had developed breast cancer when they were 37 and 48 years old. A physical examination showed an ill-defined mass, 1.5 cm in diameter, located in the upper outer quadrant of the patient's left breast. mammography revealed diffuse microcalcification in both breasts but ultrasonography revealed an irregular tumorous lesion only in the left breast. Aspiration breast cytology revealed adenocarcinoma of the left breast. Modified radical mastectomy of the left breast and excision of a biopsy specimen from the right breast were carried out simultaneously. Histopathologically the left-breast tumor was an atypical medullary carcinoma with cartilaginous metaplasia, of histological grade 3, and the right-breast specimen showed fibrocystic changes with atypical ductal hyperplasia. Estrogen receptors were positive, but progesterone receptor was not detected on the tumor cells, which were immunopositive for nuclear p53 although c-erbB-2 overexpression was not observed. A nonsense germline mutation of the BRCA1 gene (exon5) was detected. The patient has been well since the operation (10 months). These findings may provide useful information about the carcinogenesis and biological behavior of BRCA1-associated breast cancers.
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2/8. Two tumors detected by thyroid assessment in two children.

    OBJECTIVE: To describe the early detection of two tumors in two children by recognition of unusual features in initial thyroid assessments. methods: We present the clinical findings and results of laboratory studies in two children. In addition, we describe RET proto-oncogene studies in one of them. RESULTS: A 14.5-year-old boy was referred for assessment because of short stature in conjunction with lack of physical growth and development. His physical examination was remarkable for height at the 50th percentile (height age, 11.5 years), weight at the 50th percentile (weight age, 13 years), and prepubertal male status. Pertinent laboratory findings were a normal thyroid-stimulating hormone (TSH) level but low free thyroxine (FT4) index. These findings prompted an immediate magnetic resonance imaging study of the head. A parasellar tumor was detected and removed; histopathologic examination revealed that it was a craniopharyngioma. The patient requires lifelong multihormonal therapy for his panhypopituitarism and has responded with physical growth. Our second patient, a 7.5-year-old girl, was referred because of a painless left thyroid nodule of 4 months' duration. Her physical examination was remarkable for (1) upper lip swelling, (2) intermittent rash, and (3) a goiter with painless mobile left and right nodules. Normal levels of TSH and FT4, serum calcitonin of 6,192 pg/mL, and a fine-needle biopsy specimen that stained strongly for calcitonin were obtained at her first clinic visit. A total thyroidectomy was performed and confirmed the presence of medullary thyroid carcinoma. Genetic studies showed that she was positive for the RET multiple endocrine neoplasia IIB mutation. After 4 years of follow-up, the patient had serum calcitonin levels that remained low (<2.2 pg/mL). CONCLUSION: attention to thyroid physical findings and laboratory studies can promptly lead to correct diagnoses and management of some rare and life-threatening tumors in children.
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keywords = physical examination, physical
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3/8. Surgical approach to cervical lymph node metastasis in differentiated thyroid cancer.

    BACKGROUND: Precautionary locoregional lymph node dissection in thyroid carcinomas for diagnostic and/or staging purposes is useless both in differentiated (papillary and follicular) and undifferentiated forms. It is only indicated in medullary carcinomas because of their frequent spread to regional lymph nodes. The objective of lymphadenectomy is to contain tumor spread; however, the procedure may be associated with intraoperative complications and postoperative sequelae. In order to improve the therapeutic management of patients with thyroid carcinoma, diagnostic scintigraphy with 201T1 or 99mTc-sestamibi is used in the advanced and undifferentiated forms of this tumor. methods: We have treated a woman submitted three years previously to total thyroidectomy for papillary carcinoma (pT3) without subsequent radiometabolic treatment. On physical examination we noted a swelling on the left side of the neck. The lesion was confirmed by ultrasonography, CT scan, and scintigraphic examination with 99mTc-sestamibi 24 hours before planned lymphadenectomy. During the surgical procedure we performed radiodetection to localize metastatic lesions. RESULTS: Intraoperative radiodetection may help to identify residual disease, which is often difficult to trace in the presence of post-surgical fibrosis. In our patient, histological examination of the removed tissue specimens demonstrated that intraoperative radiolocalization had been highly accurate. The eradication of residual disease was confirmed by scintigraphic follow-up after 12 months. DISCUSSION AND CONCLUSIONS: Scintigraphy with 99mTc-sestamibi has been proposed as a means to localize metastatic spread and possible residual disease after a supposedly radical thyroidectomy. Surgical eradication of all residual tumor guarantees the best disease control without having to resort to radiometabolic therapy. This approach will reduce the incidence of iatrogenic comorbidity and consequently improve the patients' quality of life.
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4/8. Long-term survivor without recurrence after resection of simultaneous solitary pancreatic metastasis from thyroid medullary carcinoma.

    A 43-year-old Japanese man had an increasing level of serum CEA pointed out by annual physical check-ups. No abnormal findings were detected in the lungs or gastrointestinal tract. The only pathological lesions were a 1.5-cm-sized nodule in the pancreatic tail and a 5-cm-sized thyroid tumor. The thyroid tumor was shown to be medullary carcinoma by aspiration cytology. He underwent total thyroidectomy with extensive lymph node dissection. After thyroid surgery, the patient received distal pancreatectomy 2 weeks later. Pathological examination revealed the pancreatic tumor to be a metastasis of thyroid medullary carcinoma. The patient is alive and well without recurrence 5 years after thyroidectomy and pancreatectomy. The serum levels of CEA and calcitonin remain within normal limits. Thus, the patient seems to have had a solitary metastatic tumor from thyroid medullary cancer.
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5/8. Medullary breast carcinoma: a case report with cytological features and histological confirmation.

    We report the case of a 83-year-old woman who presented with a left-breast lump. On physical examination the patient had a well-demarcated mass located in the upper outer quadrant of her left breast with a palpable unilateral axillary lymph node. mammography and ultrasonography depicted a heterogeneous well-defined lesion measuring 6 cm in diameter without calcifications. Fine-needle aspiration cytology of the lesion was performed. Cytological examination revealed highly cellular smears containing large atypical cells arranged in syncytial sheets and intimately admixed with lymphocytes and neutrophils. The nuclear to cytoplasmic ratio was high in tumor cells whose nucleus exhibited coarse chromatin with one or more conspicuous nucleoli. The diagnosis of medullary breast carcinoma, which was strongly suspected by cytology, was confirmed by histological examination of the surgical specimen after a modified radical mastectomy with axillary dissection.
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6/8. Thyroid medullary carcinoma with thyroglobulin immunoreactivity in sporadic multiple endocrine neoplasia type 2-B.

    BACKGROUND. Thyroid carcinomas historically have been divided into two groups according to their presumedly separate embryonic origins: those of neuroectodermal derivation (parafollicular or medullary carcinoma [MCT]) and those of foregut endodermal origin (follicular and papillary carcinomas). The validity of this concept has been questioned by the recognition that some MCT may show immunocytochemical and ultrastructural evidence of follicular components, and display features of follicular function (e.g., organification of iodine, immunoreactivity for thyroglobulin). methods. A 14-year-old boy presented with the physical features of multiple endocrine neoplasia type 2-B (MEN 2B) and a thyroid mass. His thyroid lesion was studied by light microscopy; electron microscopy; immunohistochemistry using antisera to calcitonin, thyroglobulin, and other peptides; and in situ hybridization. RESULTS. The tumor was identified as an MCT by light microscopy. It stained positively with calcitonin, thyroglobulin, chromogranin, neuron-specific enolase, and serotonin. At the ultrastructural level, the tumor cells contained numerous neurosecretory granules and showed evidence of follicular differentiation (luminal microvilli, follicle formation, and tight junctions), suggesting a dual neuroendocrine and follicular differentiation. CONCLUSIONS. The morphologic findings suggest that a small number of MCTs arise from a common stem cell (possibly the ultimobranchial body) that may give rise to both MCT and follicular carcinoma. This patient and patients in similar cases documented in the literature challenge the classic concept of separate pathways of embryogenesis for these two cell types.
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7/8. Fine needle aspiration biopsy of medullary carcinoma of the thyroid metastatic to the liver. A case report.

    A 59-year-old female with a six-month history of medullary carcinoma of the thyroid (MCT) presented with multiple liver nodules and several physical complaints. Ultrasound-guided fine needle aspiration biopsy (FNAB) of the liver established the diagnosis of metastatic MCT. This report describes the usefulness of FNAB, aided by immunocytochemical and ultrastructural studies, in patients with MCT in whom liver metastases are suspected.
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keywords = physical
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8/8. Medullary carcinoma of the thyroid metastatic to the temporal bone.

    We report a case of proven thyroid medullary carcinoma, metastatic to the temporal bone. review of the otolaryngology literature demonstrates that this is the first such report. The patient presented with symptoms, physical examination, and imaging studies suggestive of a glomus jugulare tumour. The pre-operative diagnosis of metastatic thyroid medullary carcinoma, however, was made, based on a history of medullary carcinoma of the thyroid with previous metastases as well as an elevation in calcitonin levels. Histological examination of the surgical specimen confirmed the diagnosis.
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