Clinicopathologic characteristics and NFE2 sequencing results
| Case ID . | Sex/age, y . | Myeloid sarcoma site . | Bone marrow pathology . | Clinical scenario . | NFE2 coding region . |
|---|---|---|---|---|---|
| A | F/68 | Skin, abdomen | MPN | MPN with AML transformation | Wild-type |
| B | M/54 | Gingiva | Negative | iMS | Wild-type |
| C | M/37 | Parotid gland | Negative | iMS | Wild-type |
| D | M/61 | Testis | AML | Systemic AML | Wild-type |
| E | M/73 | Perirenal soft tissue | 4% Blasts | iMS, t-AML | Wild-type |
| F | M/48 | Supraclavicular lymph node | AML | Systemic AML | Wild-type |
| G | F/51 | Soft tissue, arm | Negative | iMS, relapse | Wild-type |
| H | M/28 | Lymph node | Negative | iMS, relapse | Wild-type |
| I | M/65 | Lymph node | MDS-EB2 | MDS-EB2 | Wild-type |
| J | F/38 | Retroperitoneum | Negative | iMS | Wild-type |
| K | F/63 | Soft tissue, leg | AML-MRC | History of CMML | Wild-type |
| L | F/60 | Skin, scalp | Negative | iMS, relapse | Wild-type |
| M | M/73 | Skin, chest | Negative | iMS, concurrent metastatic melanoma | Wild-type |
| N | F/65 | Mediastinum | Plasma cell myeloma | iMS | Wild-type |
| O | F/70 | Breast | Negative | iMS, relapse t-AML | Arg365Pro Germline (heterozygous) |
| P | M/68 | Sacrum | NA | Preceding MDS, post-HSCT | Wild-type |
| Q | F/53 | Retroperitoneum | Negative | iMS, monocytic differentiation | Wild-type |
| R | F/39 | Skin | AML | Systemic AML | Wild-type |
| S | M/4 mo | Skin | AML | Systemic AML | Wild-type |
| T | M/16 | Soft tissue, scalp | AML | Systemic AML | Wild-type |
| U | M/55 | Ethmoid sinus/orbit | AML | Relapse with AML | Wild-type |
| V | F/59 | Parotid | AML | Relapse with AML | Wild-type |
| W | F/24 | Tonsil | AML | Synchronous AML | Wild-type |
| X | M/7 mo | Groin | Negative | iMS, de novo | Wild-type |
| Y | F/64 | Nasopharynx | Negative | iMS, de novo | Wild-type |
| Z | F/75 | Cervical lymph node | AML | Synchronous AML | Wild-type |
| AA | F/38 | Paraspinal mass | AML | iMS initially, relapsed with AML | Wild-type |
| AB | M/57 | Chest wall | AML | NA | Wild-type |
| AC | F/57 | Femur | ET | MPN-ET | Wild-type |
| AD | F/69 | Buttock | aCML | Synchronous MDS/MPN | Wild-type |
| AE | M/82 | Testis/skin | AML | Synchronous AML | Wild-type |
| AF | F/61 | Nasopharynx | MDS-EB2 | MDS-EB2 | Wild-type |
| AG | M/27 | Tonsil/neck mass | AML-MRC | iMS, relapse | Wild-type |
| AH | F/65 | Paraspinal mass | t-AML | iMS, relapse | Wild-type |
| AI | F/55 | Epidural | NA | NA | Wild-type |
| AJ | F/41 | Breast | CML | NA | Wild-type |
| AK | M/61 | Nasopharynx | NA | NA | Wild-type |
| AL | F/67 | Axillary lymph node | AML | NA | Wild-type |
| Case ID . | Sex/age, y . | Myeloid sarcoma site . | Bone marrow pathology . | Clinical scenario . | NFE2 coding region . |
|---|---|---|---|---|---|
| A | F/68 | Skin, abdomen | MPN | MPN with AML transformation | Wild-type |
| B | M/54 | Gingiva | Negative | iMS | Wild-type |
| C | M/37 | Parotid gland | Negative | iMS | Wild-type |
| D | M/61 | Testis | AML | Systemic AML | Wild-type |
| E | M/73 | Perirenal soft tissue | 4% Blasts | iMS, t-AML | Wild-type |
| F | M/48 | Supraclavicular lymph node | AML | Systemic AML | Wild-type |
| G | F/51 | Soft tissue, arm | Negative | iMS, relapse | Wild-type |
| H | M/28 | Lymph node | Negative | iMS, relapse | Wild-type |
| I | M/65 | Lymph node | MDS-EB2 | MDS-EB2 | Wild-type |
| J | F/38 | Retroperitoneum | Negative | iMS | Wild-type |
| K | F/63 | Soft tissue, leg | AML-MRC | History of CMML | Wild-type |
| L | F/60 | Skin, scalp | Negative | iMS, relapse | Wild-type |
| M | M/73 | Skin, chest | Negative | iMS, concurrent metastatic melanoma | Wild-type |
| N | F/65 | Mediastinum | Plasma cell myeloma | iMS | Wild-type |
| O | F/70 | Breast | Negative | iMS, relapse t-AML | Arg365Pro Germline (heterozygous) |
| P | M/68 | Sacrum | NA | Preceding MDS, post-HSCT | Wild-type |
| Q | F/53 | Retroperitoneum | Negative | iMS, monocytic differentiation | Wild-type |
| R | F/39 | Skin | AML | Systemic AML | Wild-type |
| S | M/4 mo | Skin | AML | Systemic AML | Wild-type |
| T | M/16 | Soft tissue, scalp | AML | Systemic AML | Wild-type |
| U | M/55 | Ethmoid sinus/orbit | AML | Relapse with AML | Wild-type |
| V | F/59 | Parotid | AML | Relapse with AML | Wild-type |
| W | F/24 | Tonsil | AML | Synchronous AML | Wild-type |
| X | M/7 mo | Groin | Negative | iMS, de novo | Wild-type |
| Y | F/64 | Nasopharynx | Negative | iMS, de novo | Wild-type |
| Z | F/75 | Cervical lymph node | AML | Synchronous AML | Wild-type |
| AA | F/38 | Paraspinal mass | AML | iMS initially, relapsed with AML | Wild-type |
| AB | M/57 | Chest wall | AML | NA | Wild-type |
| AC | F/57 | Femur | ET | MPN-ET | Wild-type |
| AD | F/69 | Buttock | aCML | Synchronous MDS/MPN | Wild-type |
| AE | M/82 | Testis/skin | AML | Synchronous AML | Wild-type |
| AF | F/61 | Nasopharynx | MDS-EB2 | MDS-EB2 | Wild-type |
| AG | M/27 | Tonsil/neck mass | AML-MRC | iMS, relapse | Wild-type |
| AH | F/65 | Paraspinal mass | t-AML | iMS, relapse | Wild-type |
| AI | F/55 | Epidural | NA | NA | Wild-type |
| AJ | F/41 | Breast | CML | NA | Wild-type |
| AK | M/61 | Nasopharynx | NA | NA | Wild-type |
| AL | F/67 | Axillary lymph node | AML | NA | Wild-type |
Clinicopathologic findings of cases A through M, as described in Werstein et al3 ; all other cases are newly reported.
aCML, atypical chronic myeloid leukemia, BCR-ABL1 negative; AML-MRC, acute myeloid leukemia with myelodysplastic-related change; CML, chronic myeloid leukemia, BCR-ABL1 positive; CMML, chronic myelomonocytic leukemia; ET, essential thrombocythemia; F, female; HSCT, hematopoietic stem cell transplantation; iMS, isolated myeloid sarcoma; M, male; MDS, myelodysplastic syndrome; MDS-EB2, myelodysplastic syndrome with excess blasts-2; mo, month; MPN, myeloproliferative neoplasm; NA, not available; t-AML, therapy-related acute myeloid leukemia.