A 32-year-old male presented to the emergency room of the hospital in February 2000, with pain in the left shoulder and lumbar spine.
Routine physical and laboratory examination was irrelevant.
The radiological study showed generalized lytic bone lesions.
Abdominal chest CT showed no images suggestive of visceral malignancy.
Gastroscopy, opaque enema, abdominal, testicular and prostatic ultrasound were normal.
In order to establish a diagnosis, a bone marrow biopsy was performed in the iliac crest.
Microscopically, the bone marrow showed a partial substitution of its usual cellularity, by a neoplasia consisting of epithelial nests, in a poor fibrous stroma in some zones, while in other areas these nests are very prominently surrounded by bone marrow.
The immunohistochemical study showed negativity to estrogen receptors, S-100 protein, HMB45, p53, bc1-2 and synaptophysin.
It was found in 25% of nuclei with MIB-1 and in 90% of nuclei with p27 and diffuse and strong positivity to progesterone receptors, chromogranin A, 50% of nuclei with specific neuronal tincture, and not with calcitonin.
With these elements a diagnosis compatible with bone metastasis of medullary thyroid carcinoma was emitted.
Calcitonin serum determination was 3,500 pg/ml (normal 15-100) and CEA was 231 ng/ml (normal 0.01-5), with normal serum Ca 125, Ca 19.9 and PSA levels.
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Given the poor physical condition of the patient, the patient was referred to our institution where a small solid thyroid nodule with calcium removed in the left lobe was found on ultrasound.
When the family was investigated, no history of thyroid disease was found.
You are given a first-line chemotherapy (CDDP-ADR-VP16) for 6 months, with no response.
Radiotherapy is also indicated for lumbar spine.
In early February 2001, a second line of chemotherapy was initiated (CTX-DTIC), which was suspended a few days due to poor patient condition, progression of metastasis to the bone level and appearance of lung metastases.
The patient died on 21 February 2001.
The family does not authorize necropsy.
