PMC9523154_01
(A) Ultrasound picture of the pathologic submandibular lymph node, size: 2.19 x 1.59 cm. (B) The excisional biopsy demonstrates diffuse architecture of the lymph node with atypical cell infiltration (100 x, H&E). (C) The lesion is composed of large, elongated or epithelioid cells with vesicular nuclei, multiplex nucleoli, and eosinophilic cytoplasm (400 x, H&E). (D) The neoplastic cells are positive for CD68 (100 x). (E) The neoplastic cells are positive for S100 (100 x). (F) The neoplastic cells are positive for fascin (100 x). (G) PET-CT demonstrates infiltration of the sternal manubrium. (H) PET-CT demonstrates infiltration of the 4th right rib. (I) PET-CT demonstrates infiltration of the acromial end of the left clavicle.
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F1
Six months later, a hard, painless lymph node of 2 x 1.4 x 1.4 cm size was discovered in the left submandibular region by ultrasound (Figure 1A). Histological examination revealed a spindle cell tumor with the following immunophenotype: LCA, CD68, S100, and fascin positivity and negativity for CD1a, CD21, CD23, CD3, CD20, and CD30 (Figures 1B-F), confirming the diagnosis of IDCS. One year later, multiple enhancing skeletal lesions were identified by the regular follow-up PET-CT (Figures 1G-I). IgH-gene rearrangement analysis using the Biomed-2 protocol showed identical peaks consistent with the same biallelic or biclonal translocations in the B-ALL and IDCS samples (see Supplementary Figure 1). Besides several common alterations mutations of BTK, SOX17, DOT1L, and ATRX genes were exclusively identified in the B-ALL sample, while a novel activating mutation of MAP2K1 in exon2 (c.157_171del) was detected only in the IDCS sample (Figure 2, Supplementary Table 1).
Historical timeline of the case. ABVD, doxorubicin (Adriamycin), bleomycin, vinblastine, dacarbazine; B-ALL, B-lymphoblastic leukemia; BM, bone marrow; DHAP, dexamethasone, cytarabine (Ara C), cisplatin; ICE, infusional ifosfamide carboplatin, etoposide; LN, lymph node. Created with BioRender.com.
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F2
The historical timeline of the case is shown in Figure 2. Besides several common alterations mutations of BTK, SOX17, DOT1L, and ATRX genes were exclusively identified in the B-ALL sample, while a novel activating mutation of MAP2K1 in exon2 (c.157_171del) was detected only in the IDCS sample (Figure 2, Supplementary Table 1).