Rare primary extramedullary hematopoiesis of the thyroid without intranodular vascularity and mutations in the JAK2, MPL, and calreticulin genes
Rare primary extramedullary hematopoiesis of the thyroid without intranodular vascularity and mutations in the JAK2, MPL, and calreticulin genes
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罕见的甲状腺原发性髓外造血，无结内血管分布以及 JAK2、MPL 和钙网蛋白基因突变
DOI：
10.1007/s00277-020-04086-3
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发表时间：
2020
影响因子：
3.5
通讯作者：
Mihara K.
中科院分区：
文献类型：
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作者：
Matsumura N;Sasaki N;Cho Y;Daimaru Y;Nojima T;Mizuno N;Takei Y;Mihara K.
亲爱的编辑，骨髓外造血组织的发育被称为髓外造血(EMH)。它在患有血液病的患者中很常见，如骨髓纤维化和地中海贫血。肝、脾和淋巴结是EMH的常见部位，但很少有关于甲状腺EMH的报道[1-3]。细针吸取细胞学(FNAC)被认为是诊断甲状腺结节的最可靠的测试，但将所有病变提交给FNAC并不划算。因此，超声评估已成为确定结节何时需要FNAC或超声随访的关键。虽然超声与彩色多普勒成像(US-CDI)已被用来评估血管，但甲状腺恶性肿瘤是否富含结节内血管仍存在争议[4，5]。此外，BRAFV600E突变已在30-40%的乳头状甲状腺癌中被报道，并且不可靠[4]。我们描述一例无血液病的甲状腺EMH的US-CDI表现，包括无结节内血管、钙化、结节边缘规则和等回声。进一步的JAK2、MPL和钙网织蛋白基因突变检查均为阴性。据我们所知，这是首例经US-CDI证实的结节血管缺乏的甲状腺EMH，而JAK2、MPL和钙网织蛋白基因突变为阴性。1例66岁女性，无临床症状，在体检中意外发现右侧甲状腺肿瘤。包括甲状腺激素在内的实验室结果在外周血液中都是正常的。血涂片中未见幼稚细胞，包括红细胞和小红细胞。正电子发射断层扫描/计算机断层扫描显示1-2厘米的右侧甲状腺肿瘤伴有微小的钙化，没有明显的18F-氟代脱氧葡萄糖掺入。超声检查发现，甲状腺右叶有一个约12×13×22 mm的实性低回声结节，边缘规则，有微钙化(图1a，b)。US-CDI显示甲状腺结节内无血管血流(图1C-E)。因此，我们在超声引导下对甲状腺肿瘤进行了FNAC检查。病理表现包括许多小圆形细胞、多核巨细胞、淋巴细胞和浆细胞。Giemsa染色标本区分造血细胞，包括髓细胞、红母细胞和巨核细胞，提示甲状腺内有EMH(图1F-H)。骨髓抽吸和活检是正常的，突变在
Dear Editor, The development of hematopoietic tissue outside of the bone marrow is termed extramedullary hematopoiesis (EMH). It is common in patients with hematological disease such as myelofibrosis and thalassemia. The liver, spleen, and lymph nodes are the usual sites of EMH, but there are few reports of EMH in the thyroid [1–3]. Fine-needle aspiration cytology (FNAC) is considered the most reliable test for the diagnosis of thyroid nodules, but it is not cost-effective to submit all lesions to FNAC. Therefore, ultrasound evaluation has become essential to determine when a nodule requires FNAC or sonographic follow-up. Although ultrasound with color Doppler imaging (US-CDI) have been performed to evaluate the vascularity, it is controversial whether thyroid malignancies are rich in intranodular vascularity [4, 5]. Furthermore, BRAFV600E mutation has been reported in 30–40% of papillary thyroid cancers and are not reliable [4]. We describe a case of EMH in the thyroid without hematological disease that was characterized by US-CDI findings, including the absence of intranodular vascularity, calcifications, regular margins of the nodule, and isohypoechogenicity. Further examination of mutations in the JAK2, MPL, and calreticulin genes was negative.To our knowledge, this is the first report of EMH of the thyroid with vascular deficiency of nodules by US-CDI and negative mutations in the JAK2, MPL, and calreticulin genes. A 66-year-old female without clinical symptoms presented with a right thyroid tumor, which was found unexpectedly during a physical check-up. Laboratory findings including thyroid hormones were normal in peripheral blood. No immature cells, including erythroblasts and microcytic erythrocytes, were found in blood smears. Positron emission tomography/computed tomography demonstrated a 1–2-cm right thyroid tumor with tiny calcifications without significant incorporation of 18F-fluorodeoxy glucose. On ultrasound examination, the right lobe of the thyroid contained an approximately 12× 13× 22-mm solid and heterogeneously iso-hypoechoic nodule with regular margins and microcalcifications (Fig. 1a, b). US-CDI demonstrated no vascular flow in the thyroid nodule (Fig. 1c–e). Thus, we performed ultrasound-guided FNAC of the thyroid tumor. Pathological findings included many small round cells, multinucleated giant cells, lymphocytes, and plasma cells. Giemsa-stained specimens discriminated hematopoietic cells, including myelocytes, erythroblasts, and megakaryocytes, suggesting EMH in the thyroid (Fig. 1f–h). Bone marrow aspiration and biopsy were normal, and mutations in