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<p>A 48-year-old female presented with generalized weakness and body pains. Complete blood count revealed pancytopenia. MRI of the dorsal and lumbar spine demonstrated multiple focal vertebral lesions showing T1/T2 hypointensity, STIR hyperintensity, and moderate contrast enhancement. Bone marrow aspiration resulted in a dry tap. Bone marrow biopsy showed near-complete replacement of marrow spaces by discohesive tumor cells arranged in linear cords with focal signet-ring morphology. Immunohistochemistry demonstrated positivity for CK7, GATA3, and estrogen receptor (ER), with loss of E-cadherin and negativity for CK20 and TTF-1, suggestive of metastatic invasive lobular carcinoma (ILC), following which mammography identified a 1.8 × 1.5 cm lesion in the left breast, and core biopsy confirmed invasive lobular carcinoma (ER/PR positive, HER2 negative). This case highlights the importance of bone marrow biopsy and immunohistochemistry in identifying metastatic ILC presenting initially with marrow involvement, emphasizing the need for clinical vigilance and a multidisciplinary diagnostic approach.</p>

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Bone Marrow as the First Clue: Metastatic Invasive Lobular Carcinoma of Breast with Signet-Ring Morphology

  • 期刊论文

  • 发表日期：

    2026年3月17日

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  • Nagarjun Sai Jaine,
  • Rajiv Tangri,
  • Gaurav Jain,
  • Ajay Gupta

摘要

A 48-year-old female presented with generalized weakness and body pains. Complete blood count revealed pancytopenia. MRI of the dorsal and lumbar spine demonstrated multiple focal vertebral lesions showing T1/T2 hypointensity, STIR hyperintensity, and moderate contrast enhancement. Bone marrow aspiration resulted in a dry tap. Bone marrow biopsy showed near-complete replacement of marrow spaces by discohesive tumor cells arranged in linear cords with focal signet-ring morphology. Immunohistochemistry demonstrated positivity for CK7, GATA3, and estrogen receptor (ER), with loss of E-cadherin and negativity for CK20 and TTF-1, suggestive of metastatic invasive lobular carcinoma (ILC), following which mammography identified a 1.8 × 1.5 cm lesion in the left breast, and core biopsy confirmed invasive lobular carcinoma (ER/PR positive, HER2 negative). This case highlights the importance of bone marrow biopsy and immunohistochemistry in identifying metastatic ILC presenting initially with marrow involvement, emphasizing the need for clinical vigilance and a multidisciplinary diagnostic approach.